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DAYTIME INCONTINENCE
Amanda K. Berry
Michael Carr
Seth L. Schulman (5th edition)

Genetics r Description of stream (i.e., strong/weak,

BASICS r Only anecdotal relationships have been seen in continuous/interrupted)
functional daytime incontinence, unlike studies r Straining or pushing during voiding
DESCRIPTION showing genetic tendencies in nocturnal enuresis. r Frequency and description of bowel movements
r Daytime wetting in a child ≥5 years of age warrants r Increased rates of daytime wetting have been r Quality and quantity of fluid intake
evaluation. reported in urofacial (Ochoa) syndrome, an r History of soiling
r Causes of functional incontinence include an array autosomal-recessive condition, and Williams r History of UTIs, vesicoureteral reflux
of bladder storage and voiding disorders. syndrome which is the result of a deletion involving r ADD/ADHD, learning disabilities, or developmental
r Voiding dysfunction is abnormal behavior of the the elastin gene in chromosome #7.
delays
lower urinary tract without a recognized organic r Level of concern on part of child/family
ETIOLOGY
cause, generally in the form of pelvic floor r Neurogenic bladder (e.g., myelomeningocele) r Medications
hyperactivity or bladder–sphincter uncoordination. r Anatomic anomalies (e.g., ectopic ureter)
r Dysfunctional elimination syndrome describes the r Signs and symptoms:
r Obstructive uropathy (e.g., posterior urethral valves)
association between abnormal bladder and bowel – Urgency:
r Bladder irritability caused by UTI ◦ Posturing; Vincent’s curtsy
behavior.
r Constipation – Frequent urination
ALERT r Increased urinary output—polyuria – Deferred voiding
r Failure to recognize and manage constipation r Infrequent or deferred voiding – Weak or intermittent stream
before attempting to manage wetting r Overactive bladder – Large, hard, or infrequently passed bowel
r Failure of anticholinergic medication in children r Low functional bladder capacity, with detrusor movements
with significant postvoid residuals or with – Recurrent UTIs
instability during filling
constipation r Temperamental factors (e.g., short attention span, PHYSICAL EXAM
r Use of anticholinergic medications in children with r Abdomen: Signs of constipation; distended bladder
inattentiveness to body signals) in children who
benign frequency of childhood is generally ignore the urge to void r Rectal: If constipation is suspected
ineffective. r Developmental differences in age at which toilet r Spine: Sacral abnormalities
r Increased risk of urinary tract infections (UTIs) training is achieved r Genitalia: Labial adhesions, labial erythema,
when child is placed on anticholinergic r Vaginal reflux with subsequent leakage of urine phimosis, urethral stenosis
medication, due to infrequent voiding/incomplete r Giggle incontinence r Neurologic: Sensation, reflexes, and gait
emptying
COMMONLY ASSOCIATED CONDITIONS DIAGNOSTIC TESTS & INTERPRETATION
r Constipation
EPIDEMIOLOGY Lab
r Nocturnal enuresis r First morning urinalysis to check concentrating
Prevalence r UTIs ability, rule out occult renal disease
r Studies in children 6–7 years of age have shown
r Vesicoureteral reflux is more common in children r Urine culture to rule out infection
that 3.1% of girls and 2.1% of boys had an episode
of wetting at least once per week. with voiding dysfunction, due to elevated detrusor Imaging
r Spontaneous cure rate of 14% per year without pressures that overcome a marginal vesicoureteral r Renal and bladder ultrasound in children who wet
junction. with a history of UTIs and in children with persistent
treatment
r Of all children who wet, 10% have only daytime wetting despite regular voiding
r Kidneys, ureter, and bladder (KUB) x-ray to assess
wetting, 75% wet only at night, and 15% wet DIAGNOSIS
during the day and at night. for constipation
HISTORY r MRI of lumbosacral spine if sacral abnormality or
RISK FACTORS r Onset (primary vs. secondary) refractory to treatment
r Constipation
r Frequency of voiding
r Recurrent UTIs
r Frequency and degree of wetting
r Diabetes mellitus/diabetes insipidus
r Presence or absence of any dry interval
r Attention deficit disorder/attention deficit
r Signs of urgency; use of hold maneuvers; waiting
hyperactivity disorder (ADD/ADHD)
r Developmental delay until the last minute to void

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DAYTIME INCONTINENCE

Diagnostic Procedures/Other First Line r Saedi N, Schulman SL. Natural history of voiding
r Uroflowmetry and assessment of postvoid residual r Oxybutynin (Ditropan/Ditropan XL): 5–15 mg/d dysfunction. Pediatr Nephrol. 2003;18:894–897.
urine r Tolterodine (Detrol/Detrol LA): 2–4 mg/d r Schulman SL. Voiding dysfunction in children. Urol
r Invasive urodynamic testing is not indicated in r Solifenacin (Vesicare): 5–10 mg/d Clin North Am. 2004;31:381–390.
neurologically normal children unless refractory to r Darifenacin (Enablex): 7.5–15 mg/d r Wiener JS, Scales MT, Hampton J, et al. Long-term
treatment. efficacy of simple behavioral therapy for daytime
ISSUES FOR REFERRAL wetting in children. J Urol. 2000;164:786–790.
DIFFERENTIAL DIAGNOSIS Referral to pediatric urologist:
r UTI r When wetting is refractory to behavioral
r Constipation
management, child may benefit from a noninvasive CODES
r Developmental variations in toilet training
urodynamic evaluation to assess flow pattern,
r Neurogenic bladder voiding mechanics, and ability to empty the bladder.
r Spinal cord abnormality ICD9
r 307.6 Enuresis
r Giggle incontinence
r 788.30 Urinary incontinence, unspecified
r Genitourinary tract abnormality (posterior urethral ONGOING CARE
r 788.91 Functional urinary incontinence
D
valve, ectopic ureter) PROGNOSIS
r Vaginal reflux r Spontaneous cure rate of 14% per year without ICD10
r Benign increased urinary frequency (pollakiuria) r F98.0 Enuresis not due to a substance or known
treatment
r Sexual abuse r 72% of patients sustained improvement 1 year after physiol condition
r R32 Unspecified urinary incontinence
simple behavioral therapy.
r R39.81 Functional urinary incontinence
TREATMENT COMPLICATIONS
r Local irritation and inflammation of the perineum
ADDITIONAL TREATMENT r Functional daytime incontinence is primarily a social
FAQ
General Measures problem that affects children’s self-esteem and
r Aggressive management of bowels so that child is interactions with peers. r Q: What findings can distinguish functional
passing at least 1 soft bowel movement daily (see incontinence from an ectopic ureter?
“Constipation”) r A: An ectopic ureter usually empties below the
r Elimination schedule, with voids every 2–3 hours ADDITIONAL READING sphincter or elsewhere, such as in the vagina.
and time to defecate at least once a day. A reminder r Bael A, Lax H, de Jong TP, et al. The relevance of Therefore, these girls wet all the time, with no dry
watch may be helpful. urodynamic studies for urge syndrome and period. They do not have symptoms such as urgency.
r Voiding diary provides concrete data and focus for Because in most cases the ureter draining the kidney
dysfunctional voiding: A multicenter controlled trial
child. in children. J Urol. 2008;180(4):1486–1493; is duplicated, an ultrasound or IV pyelogram (IVP)
r Positive reinforcement for regular voiding may provide more information.
discussion 1494–1495. r Q: What is a normal bladder capacity for a child?
r Avoid acidic/diuretic beverages (caffeine, r Bael A, Winkler P, Lax H, et al. Behavior profiles in
carbonation, chocolate, citrus) r A: Normal bladder capacity (in mL) can be estimated
children with functional urinary incontinence before
r Adequate hydration and after incontinence treatment. Pediatrics. as the child’s weight (in kg) × 7. A child’s bladder
r Local management of perineal irritation/ 2008;121(5):e1196–1200. capacity can be determined by measuring voided
vulvovaginitis to ensure comfort during voiding r Herndon CDA, Joseph DB. Urinary incontinence. volumes for 2 consecutive days when the child is
r Girls with postvoid dribbling due to vaginal reflux Pediatr Clin North Am. 2006;53:363–377. well hydrated. The largest voided volume is
r Loening-Baucke V. Urinary incontinence and urinary considered the child’s maximum functional capacity.
should void with their legs wide apart, sitting r Q: When is an MRI of the spine indicated?
backward on the toilet when possible, to minimize tract infection and their resolution with treatment of r A: Spinal cord imaging should be considered in
backflow of urine into the vagina. Wipe after chronic constipation of childhood. Pediatrics. 1997;
standing up. 100:228–231. children with refractory daytime wetting and signs
and symptoms suggestive of neuropathic voiding
MEDICATION (DRUGS) dysfunction, including difficulty voiding, significant
r A trial of an anticholinergic may be indicated if the
postvoid residual urine, or impaired bladder
child wets despite conservative medical/behavioral sensation. It should also be considered when
management. ultrasound reveals a thickened bladder wall and
r Extended-release formulations are available.
hydroureteronephrosis is present in the absence of
r Common side effects include dry mouth, decreased an obstruction such as posterior urethral valves.
diaphoresis with flushing, and constipation. Blurred
vision and dizziness are less common.

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DEHYDRATION
Marc H. Gorelick

DIAGNOSTIC TESTS & INTERPRETATION

BASICS DIAGNOSIS Lab
r Diagnosis of dehydration is best made on clinical
DESCRIPTION HISTORY grounds. The following laboratory tests are
r Dehydration is a negative balance of body fluid, r Frequency and duration of emesis and/or diarrhea
sometimes helpful adjuncts.
usually expressed as a percentage of body weight. will give a rough estimate of risk of dehydration. r Serum sodium:
Mild, moderate, and severe dehydration correspond r If there were large quantities of water taken, be
– Classifies type of dehydration
to deficits of <5%, 5–10%, and >10%, alert for hypotonic dehydration. If inadequate free
– Hyponatremia and hypernatremia are uncommon
respectively. water is used for hydration, patient may have
r Dehydration is classified into 3 types on the basis of in dehydration due to gastroenteritis (<5% of
hypertonic dehydration
r Frequency and quantity of urination may be difficult cases).
serum sodium concentration: Isotonic (Na 130– – Measure sodium levels in cases of clinically severe
150 mmol/L), hypotonic (Na <130 mmol/L), and to estimate in infants with diarrhea. disease, or if risk factors are present (e.g., infant
hypertonic (Na >150 mmol/L) r Decreased urination indicates possibility of
<2 months, history of excessive free water intake,
dehydration. children with significant neurologic impairment
GENERAL PREVENTION r Fever increases insensible water loss.
Many cases of frank dehydration may be prevented by limiting their ability to regulate their own intake).
r Exertion or heat exposure increases insensible water r Rapid glucose test or serum glucose: To detect
early institution of adequate oral maintenance fluid
therapy in children with gastroenteritis, with particular loss. hypoglycemia due to prolonged fasting
attention to replacement of ongoing stool losses and r Urine specific gravity: This is elevated early in
PHYSICAL EXAM
slow administration of fluids to children with vomiting. r Acute change in weight is the best indicator of fluid dehydration, but may not become elevated at all in
Use of appropriate solutions is essential to prevent deficit. If the child’s recent preillness weight is not young infants or in children with sickle cell disease.
electrolyte disturbance and worsening of diarrhea. r Serum bicarbonate: This is frequently low with
available for comparison, a reasonable estimate of
EPIDEMIOLOGY the degree of dehydration may be made from diarrheal illness, even in the absence of dehydration.
physical findings. Useful to detect significant acidosis when
Incidence r General appearance: Lethargy, irritability, thirst dehydration is clinically severe
r ∼10% of children in the USA with acute
r Vital signs: Tachycardia; orthostatic increase in heart r Blood urea nitrogen (BUN): May rise late in
gastroenteritis develop at least mild dehydration.
r Although it accounts for 10% of all nonsurgical rate or hypotension; hyperpnea dehydration in children
r Skin: Prolonged capillary refill at fingertip (<2 sec is
hospital admissions for children younger than 5
years, up to 90% of cases can be managed on an normal in warm environment); mottling; poor turgor TREATMENT
outpatient basis. r Eyes: Decreased or absent tears; sunken eyes
r Mucous membranes: Dry or parched ADDITIONAL TREATMENT
PATHOPHYSIOLOGY r Anterior fontanelle: Sunken
r Dehydration is caused by either excessive fluid General Measures
losses or inadequate intake of fluids. Oral rehydration therapy (ORT):
ALERT r Most children can be managed successfully with oral
r Some conditions leading to dehydration include:
Diagnostic pitfalls:
– GI losses: Vomiting, diarrhea (most common r Physical signs generally appear when the deficit is rehydration therapy, either at home or in a health
cause of dehydration in pediatric patients) as small as 2%. care setting.
– Renal losses: Diabetes mellitus, diabetes insipidus, r No single finding is pathognomonic of r Use rehydration solution containing 2.0–2.5%
diuretic agents glucose and 75 mmol/L Na (e.g., WHO solution), or
dehydration. A reasonable guideline is that the
– Insensible losses: Sweating, fever, tachypnea, 45–50 mmol/L Na [e.g., Pedialyte (Ross
presence of 3 or more findings indicates at least
increased ambient temperature, large burns Laboratories, Columbus, OH), Infalyte (Mead
– Poor oral intake: Stomatitis, pharyngitis, anorexia, mild dehydration. The number and severity of Johnson, Evansville, IN)].
oral trauma, altered mental status physical signs increase with the degree of r Replace entire deficit in 4–6 hours: For mild
– Note that infants and debilitated patients are at dehydration. dehydration, 50 mL/kg; for moderate to severe
r Urine output decreases early in the course of
particular risk due to lack of ability to satisfy their dehydration, 80–100 mL/kg. Include ongoing losses,
thirst freely. dehydration, and a history of decreased urination ∼5 mL/kg for each diarrheal stool.
is a sensitive but nonspecific finding. r Begin with slow administration, with strict limits
r Capillary refill time is a specific but insensitive when vomiting is present: 5 mL q1–2min. For
indicator. It may be falsely prolonged by cool infants, use a syringe or spoon rather than a bottle.
ambient temperature [<20◦ C (<68◦ F)]. It is not After 1 hour, if the oral liquids have been tolerated,
affected by fever. increase the volume and rate.
r Children with a deficit >15% will show signs of r Have the child’s caregiver participate in giving the
cardiovascular instability such as severe fluids, and provide education with regard to fluid
tachycardia and hypotension. replacement and signs of dehydration.
r Physical findings may be more significant for a r Monitor weight, intake and output, and clinical
given degree of dehydration in children with signs. Failure of oral rehydration therapy includes
hyponatremia, leading to overestimation of the intractable vomiting, clinical deterioration, or lack of
improvement after 4 hours.
deficit. Conversely, the clinical picture is reported
to be somewhat moderated in hypernatremia.

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DEHYDRATION

IV Fluids
r IV fluids are required when ORT fails or is
IN-PATIENT CONSIDERATIONS ADDITIONAL READING
Admission Criteria r Armon K, Stephenson T, MacFaul R, et al. An
contraindicated, such as in severe dehydration or r Failure of oral or IV rehydration within 4 hours
shock, poor gag or suck, depressed mental status, r Severe hypernatremia evidence and consensus based guideline for acute
severe hypernatremia (Na >160 mmol/L), suspected r Substantial ongoing losses indicating a high diarrhea management. Arch Dis Child. 2001;85(2):
surgical abdomen. 132–142.
r Administer IV bolus of normal saline or Ringer likelihood of recurrence of dehydration r Centers for Disease Control and Prevention.
lactate, 20 mL/kg, over 10–30 minutes. Repeat as Discharge Criteria Managing acute gastroenteritis among children:
needed to restore cardiovascular stability. Avoid After initiating ORT, children who are tolerating oral Oral rehydration, maintenance, and nutritional
dextrose-containing solutions for boluses except to fluids at an acceptable rate to replace their deficit over therapy. MMWR. 2003;52 (No. RR-16).
correct documented hypoglycemia. 4–6 hours may be discharged with a willing and r DeCamp LR, Byerley JS, Doshi N, Steiner MJ. Use of
r Calculate maintenance fluid requirements: reliable caregiver and complete the ORT at home. antiemetic agents in acute gastroenteritis: A
100 mL/kg for the 1st 10 kg, plus 50 mL/kg for the systematic review and meta-analysis. Arch Pediatr
next 10 kg, plus 20 mL/kg over 20 kg. ONGOING CARE Adolesc Med. 2008;162(9):858–865.
r Calculate fluid deficit based on clinical estimate or r Hartling L, Bellemare S, Wiebe N, et al. Oral versus D
known weight loss. For isotonic or hypotonic PROGNOSIS intravenous rehydration for treating dehydration due
dehydration, give 1/3–1/2 normal saline with 5% Excellent with appropriate rehydration therapy to gastroenteritis in children. Cochrane Library
dextrose, at a rate adequate to provide maintenance 2009;(3):CD004390.
COMPLICATIONS r Holliday MA, Ray PE, Friedman AL. Fluid therapy for
and replace deficit over 24 hours. For hypertonic r Severe dehydration may lead to hypovolemic shock
dehydration, replace deficit over 48 hours, using and acute renal failure. children: Facts, fashions and questions. Arch Dis
1/5–1/4 normal saline with 5% dextrose. r Hyponatremia is associated with hypotonia, Child. 2007;92(6):546–550.
r Monitor weight, intake and output, and clinical r Steiner MJ, DeWalt DA, Byerley JS. Is this child
hypothermia, and seizures.
signs. With hypernatremia, measure serum sodium r Overly rapid correction of hypernatremia can dehydrated? JAMA. 2004;291(22):2746–2754.
q4–6h; do not exceed rate of fall of 1 mmol/L/h.
r For mild to moderate isonatremic dehydration, rapid produce cerebral edema.
replacement of deficit over 2–6 hours may be PATIENT MONITORING
r After rehydration, children with ongoing losses, as in
CODES
possible. Give normal saline at a rate to replace the
estimated deficit at a rate of 25–50 cc/kg/h. gastroenteritis, should receive a maintenance ICD9
solution in addition to regular feedings to maintain r 276.51 Dehydration
MEDICATION (DRUGS) a positive fluid balance. r 775.5 Other transitory neonatal electrolyte
First Line r Recommend 5–10 mL/kg for each diarrheal stool.
Most children with dehydration do not require specific disturbances
Avoid clear liquids with excessive glucose, such as
medication therapy. For children with significant fruit juices, punches, and soft drinks, as these can ICD10
vomiting, several studies indicate that ondansetron promote osmotic fluid losses in the stool. r E86.0 Dehydration
0.15 mg/kg PO decreases vomiting and facilitates oral r In infants <6 months old, do not give large amounts r P74.1 Dehydration of newborn
rehydration.
of plain water, which can lead to hyponatremia.

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22Q11.2 DELETION SYNDROME (DIGEORGE SYNDROME)

Erin E. McGintee

r Lymphocyte markers:
BASICS DIAGNOSIS – To determine absolute numbers of T and B cells
and their subsets
DESCRIPTION HISTORY r Mitogen studies:
r Neonatal hypocalcemia secondary to
22q11.2 deletion syndrome, formerly known as – To study the functional abilities of T and B cells. In
DiGeorge syndrome, is characterized by thymic and hypoparathyroidism DiGeorge syndrome, you may see a variably
parathyroid aplasia or hypoplasia, cardiac outflow r Recurrent viral and opportunistic infections:
depressed response to phytohemagglutinin,
tract abnormalities, cleft palate, velopharyngeal Diarrhea, candidiasis, respiratory infections, concanavalin A, and pokeweed mitogen.
insufficiency, speech delay, and facial dysmorphism. Pneumocystis carinii pneumonia (PCP) r Quantitative immunoglobulins (IgG, IgA, IgM, and
T-cell immunodeficiency is observed in 80% of r Cardiac defects, particularly interrupted aortic arch,
IgE):
children with DiGeorge syndrome: septal defects, tetralogy of Fallot, and truncus – Often the humoral system will be abnormal if
r Patients with complete DiGeorge syndrome have a arteriosus there is helper T-cell dysfunction.
severe T-cell defect. r Failure to thrive r Fluorescence in situ hybridization (FISH) for 22q11
r Partial DiGeorge syndrome occurs when the T-cell deletion:
PHYSICAL EXAM
defect is partial or transient. Facial dysmorphism (micrognathia; low, rotated ears; – Most common chromosomal defect
RISK FACTORS fish-shaped mouth; short philtrum, anteverted nares, Imaging
Genetics broad nasal bridge, and hypertelorism): Chest radiograph study to evaluate for cardiac
r Heterogeneous r Cleft lip and palate malformation and also for the presence of a thymic
r 6–10% of cases are familial. r Heart murmur shadow
r Most common associated chromosomal r Renal abnormalities
r Skeletal abnormalities
abnormalities are heterozygous microdeletions of
r Central nervous system malformations
TREATMENT
22q11.2.
r Cognitive/behavioral disorders ADDITIONAL TREATMENT
PATHOPHYSIOLOGY
r Major immunologic features present at birth: General Measures
DiGeorge is believed to be a developmental defect of
Lymphopenia, T-cell dysfunction; antibody levels and r Depending on the defects or deficiencies the child
the 3rd and 4th pharyngeal arches.
function are variable. manifests, some issues may need to be addressed:
– Cardiology for the cardiac malformations
DIAGNOSTIC TESTS & INTERPRETATION – Otolaryngology and feeding specialist for cleft
Lab palate
r CBC with differential:
– Endocrinology for follow-up of hypoparathyroidism
– Immediately after birth, a lymphocyte count of – Speech and cognitive intervention for speech delay
<1,200/mm3 is suspicious. – Immunology to monitor T-cell disorder and
– Serum calcium recurrent infections
– Evaluation of parathyroid function, if necessary – Severe immunodeficiency may require matched
sibling bone marrow transplant or thymic
transplant.

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22Q11.2 DELETION SYNDROME (DIGEORGE SYNDROME)

r Special consideration with infections: Children with COMPLICATIONS r Perez EE, Bokszczanin A, McDonald-McGinn D,
the complete DiGeorge syndrome are at increased In the newborn period, patients present with et al. Safety of live viral vaccines in patients with
risk of morbidity and mortality from viral infections hypocalcemic tetany, manifestation of cardiac chromosome 22q11.2 deletion syndrome (DiGeorge
either from vaccines or natural infections: abnormality, and recurrent infections. Later on, syndrome/velocardiofacial syndrome). Pediatrics.
– Avoid live viral vaccines in cases of severe T-cell patients present more commonly with neurologic and 2003;112(4):e325.
dysfunction. These patients may need developmental or behavioral issues. Patients are at r Perez E, Sullivan KE. Chromosome 22q11.2 deletion
immunoglobulin replacement therapy to protect increased risk for development of autoimmune syndrome (DiGeorge and velocardiofacial
from infections. disease. syndromes). Curr Opin Pediatr. 2002;14:678–683.
– Most patients with CD4+ cell counts >500 cells/ r Radford DJ. The DiGeorge syndrome and the heart.
mm3 can be safely and effectively vaccinated with Curr Opin Pediatr. 1991;3:828–831.
live viral vaccines. ADDITIONAL READING r Sullivan KE. DiGeorge syndrome/chromosome
– Consider varicella immune globulin in a patient r Al-Sukaiti N, Reid B, Lavi S, et al. Safety and efficacy 22q11.2 deletion syndrome. Curr Allergy Asthma
with either unknown humoral immunity status or Rep. 2001;1(Sep):438–444.
of measles, mumps, and rubella vaccine in patients
definitive humoral abnormalities and a history of
with DiGeorge syndrome. J Allergy Clin Immunol.
exposure. IV acyclovir may be necessary if varicella
develops and patient has severe T-cell defect.
2010;126(4):868–869. D
r Special consideration with blood transfusions:
r Carotti A, Digilio MC, Piacentini G, et al. Cardiac CODES
defects and results of cardiac surgery in 22q11.2
– Because these patients are at risk for
deletion syndrome. Dev Disabil Res Rev. 2008; ICD9
graft-versus-host disease, it is best to use
14(1):35–42. 279.11 DiGeorge syndrome
cytomegalovirus-negative, irradiated blood. r Emanuel BS. Molecular mechanisms and diagnosis
ICD10
of chromosome 22q11.2 rearrangements. Dev
D82.1 Di George’s syndrome
ONGOING CARE Disabil Res Rev. 2008;14(1):11–18.
r Goldmuntz E. DiGeorge syndrome: New insights.
FOLLOW-UP RECOMMENDATIONS Clin Perinatol. 2005;32(4):963–978. FAQ
Patient Monitoring r McLean-Tooke A, Barge D, Spickett GP, et al.
r Monitor growth. r Q: Is there a definitive test to distinguish between
Immunologic defects in 22q11.2 deletion syndrome.
r Monitor hearing. J Allergy Clin Immunol. 2008;122:362–367. partial and complete DiGeorge syndrome?
r Monitor development. r A: Over time, patients with partial DiGeorge
syndrome will reconstitute their T cells and acquire
PROGNOSIS improved function based on mitogen and antigen
Prolonged survival is seen in most patients after the studies.
spontaneous improvement of T-cell numbers and
function. Patients with complete DiGeorge syndrome
may have more severe and persistent T-cell
dysfunction. Complications may include an increase in
autoimmune phenomena and neurologic sequelae.

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DENTAL/ORAL PAIN AND URGENCIES

Hugh Silk
Sheila Stille
Ciarán DellaFera

DIAGNOSTIC TESTS & INTERPRETATION – Mandible fracture: Suspect in chin trauma; can
BASICS Lab break in 2 places along arch
Rare; culture and sensitivity for complicated infection – Maxillary fracture: Alveolar versus LeFort
DESCRIPTION r ALLERGY/INFLAMATION/VASCULITIS
Dental urgencies consist of a number of acute issues Imaging
r See ‘Treatment’ below for specifics – Gingivitis: Superficial inflammation of gums
that occur in the mouth. These include dental caries, r May require individual periapical films, panoramic
cavities, worsening infections, such as abscesses and second to poor oral hygiene and plaque
cellulitis, trauma, and other sources of referred pain. views or CT irritation, foreign body (food) between teeth and
gum, or hormonal changes (OCPs, pregnancy)
EPIDEMIOLOGY Diagnostic Procedures/Other
r Dental caries are the most common chronic disease r General Goals – Periodontitis: Inflammation of bone and
– PHASE ONE: Stabilize patient (if necessary) supporting ligaments and gum resulting in bone
of childhood: 19% of 2–5 year olds and 52% of loss
5–9 year olds – PHASE TWO: Make specific diagnosis; rule out
r 30% of preschoolers have suffered a dental trauma differential diagnoses – Acute necrotizing ulcerative gingivitis (Vincent’s
– PHASE THREE: Create patient-centered angina): Edematous, ulcerated gingival;
to primary teeth bacterial etiology
r 25% of 12 year olds have injured their permanent management plan focusing on alleviating
pain/disease – Ulcers: Aphthous; infectious (viral: Herpetic,
teeth r Hints for Screening Problems coxsackie; bacterial); traumatic (e.g., biting
Incidence – Screening/education is key for prevention: gum); drug reaction
r Peak incidence of dental injury occurs between ages – Temporomandibular joint inflammation (TMJ)
– Ask and advise about oral hygiene promotion and
2 and 4 years dental surveillance r MISCELLANEOUS
r 80% of caries in children between ages 5–17 occur – Education about medical/dental connections – Bruxism leading to teeth erosion or TMJ
in 25% of all children, those with the most risk – Educate about mouth guard use; consult against – Referred pain: Otitis media/externa, sinusitis
factors oral piercings/secondary prevention (remove
piercing for sports, don’t click on teeth, treat
infected piercing early)
DIAGNOSIS
DIFFERENTIAL DIAGNOSIS TREATMENT
HISTORY r INFECTIONS
r Details of when, where and mechanism of injury or Emergency Care
– Reversible pulpitis: A carious lesion (cavity) which
infection; determine tetanus status approaches the dental pulp r Triage as above in “Physical Exam”
r Assess symptoms: Pain, swelling, change in – Irreversible pulpitis: A carious lesion which r Address pain early and often
occlusion, difficulty opening mouth continues into the dental pulp
r Children may not be able to localize pain and may – Periapical abscess: A localized purulent erosive
ADDITIONAL TREATMENT
exhibit vague symptoms (e.g., not eating second to area of bone at apex of tooth root secondary to General Measures
r PAIN MANAGEMENT:
pain or dysphagia or trismus) necrotic pulp of tooth
– Periodontal abscess: A localized purulent form of – Acetaminophen, NSAIDs, with or without opioids
PHYSICAL EXAM (note mouth pain can be significant) based on
r Urgency/emergency Triage periodontitis secondary to loss of supporting
structure (ligament, gum) body weight
– Airway first (ABCs) – Avoid irritating cold/hot drinks, food
– Cellulitis/facial abscess: Second to progression of
– Assess for other life-threatening injuries r INFECTIONS:
periapical abscess
– Assess the Cervical Spine – Reversible pulpitis: Restoration (filing)
– Pericoronitis: Gum flap traps food and plaque over
– Neurologic exam – Irreversible pulpitis: Root canal and restoration or
partially erupted molar or impacted wisdom teeth
– Check for skull, orbit, or zygomatic fractures extraction
leading to local inflammation and infection
– Ask/assess primary versus permanent teeth – Periapical abscess: Local or regional anesthesia,
– Note availability of dental care ALERT incision and drainage, antibiotics if cellulitis;
r Examine mouth – systematic approach
Secondary infections: Submental, sublingual, and definitive treatment is root canal and restoration
– Irrigate to remove blood, clots, and debris submandibular space (Ludwig’s angina); fistulas; or extraction; antibiotics—penicillin 50 mg/kg/day
– Soft tissues facial cellulitis; meningitis divided tid, max 1.5 g/day for 10 days; clindamycin
– Teeth: Primary or Permanent r TRAUMA 10–25 mg/kg/day divided tid for penicillin allergy
– Bony structures – Facial cellulitis second to dental infection:
r Specifically assess for: – To the teeth
◦ Concussion: Tooth is tender but not displaced outpatient therapy with antibiotics (as above) for
– Tenderness, swelling, erythema mild cases with adherent patients; close follow-up
– Lacerations or ulcers or mobile
and dental referral for root canal, restoration or
– Damaged or mobile teeth ◦ Intrusion: Tooth pushed deep into gum/socket
extraction
– Occlusion ◦ Extrusion: Tooth is partially displaced
– Pericoronitis: Irrigate under gum flap; removal of
– Mobile jaw segments/step-off abnormalities (outward) from the gum/socket gum flap; extraction if impacted wisdom tooth
– Pain or limitation on opening ◦ Subluxation: Tooth is mobile but majority of
– Referred pain sources (ear, sinus) ligament attachment is in place
◦ Luxation: Tooth is mobile; no or some
displacement; ligament support is severely
damaged
◦ Avulsion: Tooth is completely detached and
extruded from mouth
◦ Tooth fracture: Four basic types based on
depth of break: Enamel only; enamel and
dentin; enamel, dentin and pulp; root
– To the jaw:

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DENTAL/ORAL PAIN AND URGENCIES

ALERT – High risk sports for dental trauma include: r McTigue DJ. Diagnosis and management of dental
Inpatient care for extensive cellulitis as spread to Hockey, football, soccer, boxing, wrestling, injuries in children. Pediatr Clin North Am.
deep tissues can result in trismus, sepsis, or airway basketball, baseball, skateboarding, skiing, 2000;47(5):1067–1084.
occlusion; consult Surgery/Oral Surgery, Infectious bicycling, in-line skating trampoline use r Newsome PR, Tran DC, Cooke MS. The role of the
Diseases; IV broad spectrum antibiotics and – Mouth guards come in many colors, styles; mouth guard in the prevention of sports-related
analgesics; CT imaging; root canal, restoration or custom/fitted are better than boil and bite, dental injuries: A review. International J Paediatr
extraction which are better than stock, however custom Dent. 2001;11(6):396–404.
r TRAUMA r Oral Health Care During Pregnancy and Early
are expensive
– Don’t assume missing teeth were lost at scene: Childhood Practice Guidelines. New York Public
Consider swallowed, aspirated, in sinus ISSUES FOR REFERRAL Health Department 2006. http://www.health.
r Primary Teeth: r See “Treatment” for specifics state.ny.us/publications/0824.pdf.
r Definitive treatment for ANY tooth-based infection r Walker J, Jakobsen J, Brown S. Attitudes concerning
– Luxated teeth: Minimal mobility – monitor; very mouthguard use in 7- to 8-year-old children. J Dent
loose or interfere with occlusion – referral for is root canal or extraction of tooth
r Note: Pregnant teenagers can have dental x-rays, Child. 2002;69(2):207–211, 126.
extraction
restoration, extractions, appropriate antibiotics and
D
– Intrusion: Don’t reposition, will re-erupt;
analgesics throughout pregnancy; all non-urgent
requires imaging to assess damage to
treatment is best done during second trimester due CODES
underlying permanent tooth; monitor
to lowest risk for miscarriage and most comfortable
– Avulsion: Do NOT re-implant ICD9
r Permanent Teeth: in dental chair; first trimester, schedule
appointments in afternoon due to nausea; third r 521.00 Dental caries, unspecified
– Concussion of tooth: Monitor with dentist trimester, position patient on left side and keep visits r 522.4 Acute apical periodontitis of pulpal origin
– Subluxation: Usually reposition, splint short, avoid full recline of chair r 959.09 Injury of face and neck
– Extrusion or lateral luxation: Reposition, splint,
+/− root canal SURGERY/OTHER PROCEDURES ICD10
Permanent teeth avulsion, tooth fractures involving r K02.9 Dental caries, unspecified
– Intrusion: Do not reposition, often associated r K04.7 Periapical abscess without sinus
the pulp or root, jaw fractures, extensive cellulitis
with alveolar bone fracture; usually needs
require emergent referrals; all other emergencies can r S09.93XA Unspecified injury of face, initial
extraction after bone heals (4 months later) be referred next day or later encounter
ALERT
r Avulsion: A true dental emergency! ADDITIONAL READING
– Hold tooth by crown, DO NOT touch root; Rinse r American Association of Endodontists.
CLINICAL PEARLS
off debris with saline or milk; Re-implant r Very few true dental emergencies: Spreading
Recommended Guidelines of the American
immediately; Bite on gauze or hold tooth in Association of Endodontists for the Treatment of cellulitic dental infection; avulsed or fractured
place; See dentist immediately for x-ray, Traumatic Dental Injuries. Chicago; 2004. permanent tooth or jaw bone
splinting, and root canal treatment. r Bastone EB, Freer TJ, McNamara JR. Epidemiology r Definitive treatment for tooth infections is
– If can’t re-implant on scene, transport in saline, of dental trauma: A review of the literature. Aust restorative root canal or extraction; must follow up
milk, or buccal sulcus (not water!) Dent J. 2000;45(1):2–9. all infections with dental referral
– Fractures: Save all fragments for dentist; r Bratton TA, Jackson DC, Nkungula-Howlett T, et al. r Dental urgencies can be prevented with proper oral
although, restoration of fragments may not be Management of complex multi-space odontogenic hygiene, preventive dental visits, avoidance of
possible infections. J Tenn Dent Assoc. 2002;82(3):39–47. mouth piercings and use of mouth guards
◦ Enamel only: Non-urgent dental referral to r Cameron A. Handbook of Pediatric. 2nd ed. United
smooth rough edges States: Mosby, 2003.
◦ Enamel and dentin: Referral within 12 hours r Dental care of the medically complex patient.
for restoration to protect pulp Lockhart PB, editor. Edinburgh (UK): Elsevier Science
◦ Enamel, dentin, and pulp: Immediate referral Limited; 2004.
for root canal, restoration or extraction r Flynn TR, Shanti RM, Levi MH, et al. Severe
◦ Root fracture: Immediate referral for imaging, odontogenic infections, part 1: Prospective report.
root canal, restoration, or extraction J Oral Maxillofac Surg. 2006;64(7):1093–1103.
◦ Mandibular condyle or alveolar bone fracture: r Holmgren EP, Dierks EJ, Homer LD, et al. Facial
Refer to oral surgeon within 1 hour for computed tomography use in trauma patients who
reduction; swelling makes more difficult require a head computed tomogram. J Oral
r ALLERGY/INFLAMMATION/VASCULITIS Maxillofac Surg. 2004;62(8):913–918.
r Levin L, Zadik Y, Becker T. Oral and dental
– Gingivitis: Remove any foreign bodies between
teeth or in gingival crevice; advise to improve complications of intra-oral piercing. Dent Traumatol
2005;21(6):341–343.
dental hygiene including brushing bid with
fluoridated toothpaste and daily flossing; warm
saline rinses; regular dental visits for cleaning,
prevention. For necrotizing gingivitis refer for
debridement; 0.012% chlorhexidine mouth
rinses
r PREVENTION
– Tetanus prophylaxis for intrusion, avulsion, deep
laceration or contaminated wound if not
updated in past 5 years
– Remind patient – wear a mouth guard; avoid
mouth piercings/jewelry; if already pierced,
remove if possible for sports and avoid clicking
on teeth; daily dental hygiene; regular dental
visits

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DERMATOMYOSITIS/POLYMYOSITIS
Timothy Beukelman
Randy Q. Cron

r Signs and symptoms: r Muscle enzymes:

BASICS – Diagnosis requires the presence of the – Elevated in 95% cases
pathognomonic rash plus 3 additional criteria: – Creatine kinase
DESCRIPTION ◦ Progressive symmetric weakness of proximal – Aspartate aminotransferase
The dermatomyositis/polymyositis complex includes a muscles – Aldolase
number of conditions in which muscle becomes ◦ Dermatitis-heliotrope rash over eyelids, Gottron – Lactate dehydrogenase
damaged by a non-suppurative lymphocytic papules over extensor surfaces of joints Imaging
inflammatory process. Juvenile dermatomyositis (JDM) ◦ Elevated serum level of muscle enzymes r MRI:
is the most common seen in the pediatric population. ◦ Electromyograph (EMG) findings of myopathy
– Inflamed muscles are identified by signal
EPIDEMIOLOGY and denervation enhancement.
r The average age of onset is 7 years. ◦ Biopsy demonstration of inflammatory myositis
– Useful to direct biopsy
r Overall male-to-female ratio is 1:1.7; however, ◦ Although not a criterion, T2-weighted MRI is r Video swallow study:
useful in establishing active myositis.
equal in children <10 years of age. – To identify palatal or proximal esophageal
Incidence PHYSICAL EXAM weakness
r 1:200,000 r Muscle weakness/tenderness: Proximal and r Pulmonary function tests/peak flow:
symmetric – To evaluate pulmonary musculature and
RISK FACTORS r Rash: interstitial lung disease
Genetics – 75% have pathognomonic rash, which usually Pathological Findings
HLA-DQ0301 appears several weeks after muscle weakness. r Skeletal muscle:
r Facial rash:
ETIOLOGY – Group atrophy or perifascicular myopathy
r Unknown – Violaceous, heliotropic changes over eyelids – Variation in fiber size due to concomitant
r Several potential mechanisms include: r Extremities:
degeneration and regeneration
– Abnormal cell-mediated immunity – Gottron papules over extensor surfaces – Inflammatory exudate in perivascular distribution
r Nailfold telangiectasia: – Necrotizing vasculitis of arterioles, capillaries, and
– Immune-complex formation
– Immunodeficiency – Simultaneous dilated loops, dropout, and venules; probably due to immune-complex
– Infection arborized capillary loops deposition
r Physical exam tricks: r Skin:
– Microchimerism
– Interferon-alpha – Gower sign: Inability to rise from floor without – Epidermal atrophy
using hands – Vascular dilatation
– Use ophthalmoscope to examine nailfold for – Lymphocyte infiltration of the dermis
DIAGNOSIS telangiectasia
– Objective measure of strength: Duration of
DIFFERENTIAL DIAGNOSIS
HISTORY r Postinfectious:
r Fever: Evidence of systemic illness straight leg raise (normal = 20 seconds)
– Influenza A and B, coxsackievirus B,
r Anorexia and weight loss: GI involvement DIAGNOSTIC TESTS & INTERPRETATION schistosomiasis, trypanosomiasis, toxoplasmosis
r Fatigue: Sign of muscle weakness Lab – Bacterial/pyomyositis-focal
r Weakness: Difficulty rising from floor, climbing r Autoantibodies: r Myositis with other connective tissue diseases:
stairs, swallowing, regurgitation through nose – Normal rheumatoid factor, complement, and – Malignancy (rare in childhood)
r Dysphonia: Sign of muscle weakness double-stranded DNA (dsDNA) – Mixed connective tissue disease
r Rash could contain clue to diagnosis. – Antinuclear antibody: 10–50% – Systemic lupus erythematosus
– PM-1: 60% adult polymyositis; however, rare in
children
– Jo-1: Associated with interstitial lung disease

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DERMATOMYOSITIS/POLYMYOSITIS

r Childhood neuromuscular diseases: r Kim S, El-Hallak M, Dedeoglu F, et al. Complete and

– If no rash, consider muscular dystrophy, ONGOING CARE sustained remission of juvenile dermatomyositis
congenital myopathies, metabolic disorders resulting from aggressive treatment. Arthritis
(glycogen storage disease, carnitine deficiency, FOLLOW-UP RECOMMENDATIONS Rheum. 2009;60:1825–1830.
myoadenylate deaminase) Patient Monitoring r Niewold TB, Kariuki SN, Morgan GA, et al. Elevated
– Neurogenic atrophies (spinal muscular atrophy r Function serum interferon-alpha activity in juvenile
and anterior horn, peripheral nerve dysfunction) r Muscle strength dermatomyositis: Associations with disease activity
– Neuromuscular transmission disorders r Joint range of movement at diagnosis and after thirty-six months of therapy.
– Inclusion body myositis r Development of calcinosis Arthritis Rheum. 2009;60:1815–1824.
r Muscle enzyme levels r Ravelli A, Trail L, Ferrari C, et al. Long-term outcome
and prognostic factors of juvenile dermatomyositis:
TREATMENT PROGNOSIS A multinational, multicenter study of 490 patients.
r Normal to good: 65–80%
MEDICATION (DRUGS) Arthritis Care Res. 2010;62:63–72.
r Minimal atrophy and joint contractures: 24% r Wedderburn LR, Rider LG. Juvenile dermatomyositis:
r Aggressive early therapy
r 2 mg/kg/d of prednisone for 1 month, taper over
r Calcinosis: 20–40%
New developments in pathogenesis, assessment and
D
r Wheelchair dependent: 5% treatment. Best Pract Res Clin Rheumatol. 2009;
months to years r Death: 3%
r IV gamma globulin, efficacious for rash 23:665–678.
r Plaquenil, particularly useful for the rash COMPLICATIONS
r Methotrexate (PO, SC, or IV); avoid IM, which may r Myositis
r Rash CODES
alter serum levels of muscle enzymes
r Cyclosporine r Arthritis
r Calcinosis ICD9
r Mycophenolate mofetil r 710.3 Dermatomyositis
r Rituximab (experimental for refractory disease) r Raynaud syndrome r 710.4 Polymyositis
r Dysphagia and dysphonia
ALERT r Restrictive lung disease and aspiration pneumonia ICD10
r Steroid-induced myopathy r M33.90 Dermatopolymyositis, unsp, organ
r Myocarditis (rare)
r Insidious onset r GI tract vasculitis involvement unspecified
r Proximal and distal muscles, often large muscle r M33.00 Juvenile dermatopolymyositis, organ
r Osteoporosis
involvement unspecified
groups such as hip flexors r Joint contractures
r Normal serum muscle enzymes r Skin infections
r Minimal myopathic changes on electromyograph r Lipoatrophy
r Type II fiber atrophy on muscle biopsy
FAQ
r Q: Is it mandatory to perform a muscle biopsy to
ADDITIONAL TREATMENT ADDITIONAL READING confirm the diagnosis?
r A: No. MRI (T2 or STIR imaging) can suffice.
General Measures r Feldman BM, Rider LG, Reed AM, et al. Juvenile
r Q: Is there an associated risk of malignancy as for
Supportive care: dermatomyositis and other idiopathic inflammatory
r Monitor for swallowing difficulty adults with this disorder?
myopathies of childhood. Lancet. 2008;371: r A: Extremely rare.
r Respiratory compromise occasionally requires 2201–2212.
mechanical ventilation. r Huber AM. Juvenile dermatomyositis: Advances in
r Treatment of calcinosis may include colchicine, pathogenesis, evaluation, and treatment. Paediatr
diltiazem, and bisphosphonates, but most are Drugs. 2009;11:361–374.
generally ineffective. r Khanna S, Reed AM. Immunopathogenesis of
Additional Therapies juvenile dermatomyositis. Muscle Nerve. 2010;
r Physical therapy 41:581–592.
– Initially to maintain range of movement
– Strengthening only after acute inflammation
resolves

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DEVELOPMENTAL DISABILITIES
Rita Panoscha

ETIOLOGY r Birth history:

BASICS Specific etiologies are too numerous to list – Gestational age
completely but a partial list of the more common – Birth weight
DESCRIPTION causes includes: – Route of delivery
r Developmental delay is a descriptive term, not a r Genetic/familial: – Maternal or fetal complications/distress
specific diagnosis, comprising many disorders and – Fragile X syndrome – Apgar scores
encompassing a broad category of etiologies. – Trisomy 21 (Down syndrome) r General health:
r The term describes any situation where a child is not – Significant illnesses, hospitalizations, or surgeries
– Other chromosomal abnormalities
meeting age-appropriate milestones as expected in – Tuberous sclerosis – Accidents or injuries
1 or more streams of development. These streams of – Neurofibromatosis – Hearing and vision status
development include gross motor, fine motor, – Phenylketonuria – Medications used
receptive and expressive language, adaptive, and – Muscular dystrophy – Known exposures to toxins
social. r Nervous system anomalies: – Any new or unusual symptoms
r The key feature is that the rate of progress has been r Developmental history:
– Hydrocephalus
slow over time in the area(s) of delay. – Lissencephaly – Current developmental achievement in each
– Spina bifida stream of development
ALERT – Seizures – Age when developmental milestones were
r Children with behavioral problems may also be
r Infections: achieved
masking developmental delays. – Prenatal cytomegalovirus – Any loss of skills
r Children with delays in 1 stream of development – Where parents think their child is functioning
– Rubella
may also have delays in other areas of – Toxoplasmosis developmentally
development. For example, language delay may – HIV r Educational history:
be an indication of general cognitive delays. – Postnatal bacterial meningitis – Type of schooling and services received, if any
r Hearing impairment may present as a delay in – Neonatal herpes simplex – Any previous educational/developmental testing
r Endocrinologic: r Behavioral history:
development.
– Congenital hypothyroidism – Any perseverative or stereotypical behaviors
EPIDEMIOLOGY r Environment: – Interaction skills
Found in both sexes and all racial and socioeconomic – Heavy metal poisoning such as lead – Attention and activity level
– In utero drug or alcohol exposure r Family history:
groups
r Trauma/injury: – Anyone with developmental delays, neurologic
Prevalence disorders, syndromes, consanguinity
This is a heterogeneous group of disorders with – Closed head trauma
different prevalence rates. – Asphyxia PHYSICAL EXAM
– Stroke r A complete physical exam including growth
GENERAL PREVENTION – Perinatal cerebral hemorrhages perimeters is needed looking for etiology.
There is no known prevention of developmental r Key features to include:
delays, although prevention of some of the underlying COMMONLY ASSOCIATED CONDITIONS
r There are numerous associated findings including – Observation of interactions and behavior: Any
causes is possible.
seizures, sensory impairments, feeding disorders, atypical behaviors and general impression
PATHOPHYSIOLOGY psychiatric disorders (especially depression), and – Head circumference: Looking for macrocephaly or
r This is highly variable depending on etiology, which microcephaly
behavioral disorders.
can include genetic, familial, metabolic, infectious, r Having a child with significant developmental delays – Skin exam: Looking for neurocutaneous lesions
endocrinologic, traumatic, anatomic brain can also add stress to the family in terms of time, – Major or minor dysmorphic features: Any
malformations, environmental toxins, and finances, and emotions. indication of a syndrome or anatomic
degenerative disorders as causes. These disorders malformation
often result in some neurologic or neuromuscular – Neurologic examination: Looking for cranial nerve
injury causing the delay. In many cases, the etiology DIAGNOSIS deficits, neuromuscular status, reflexes, balance
is never determined. and coordination, and any soft signs
r Prevalence of this group of disorders may vary HISTORY – Developmental testing: Although considerable
depending on how inclusive the definition is. The A complete and detailed history is needed, information will already be available on history
milder delays are quite common and can be found in including: and observation, a more formal developmental
r Pregnancy history: screening or testing should be done. Possible
any pediatric practice. Some disorders in this
grouping are more prevalent in boys. The long-term – Maternal age and parity office tests would be the Ages & Stages
outcome depends on the severity and type of delay, – Maternal complications (including infections and Questionnaires, Denver-II Developmental
with the more involved children usually having exposures) Screening Test, the CAT/CLAMS, or the ELM. The
lifelong disability. – Medications/drugs used latter test is basically for language screening.
– Tobacco or alcohol used, along with quantities Referral to a specialist or a multidisciplinary team
– Fetal activity for more detailed testing is indicated when delay
is suspected.

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DEVELOPMENTAL DISABILITIES

DIAGNOSTIC TESTS & INTERPRETATION r Liptak GS. The pediatrician’s role in caring for the
Lab TREATMENT developmentally disabled child. Pediatr Rev.
Initial lab tests 1996;17:203–210.
r There is no specific laboratory test battery for ADDITIONAL TREATMENT r Mendola P, Selevan SG, Gutter S, et al.
general developmental delays. The testing needs to General Measures Environmental factors associated with a spectrum of
be tailored to the individual situation based on the r Therapy should include appropriately treating any neurodevelopmental deficits. Ment Retard Dev
history and physical exam. A high index of suspicion medical conditions and associated findings, for Disabil Res Rev. 2002;8(3):188–197.
should be maintained for any associated findings example, anticonvulsants for seizures or hearing r Moeschler JB, Shevell M, Committee on Genetics.
and delays in the other streams of development. aids when appropriate for hearing impairment. In Clinical genetic evaluation of the child with mental
r Some of the more common studies ordered for addition, traditional therapy has included early retardation or developmental delays. Pediatrics.
developmental delay workup: intervention or special education services specifically 2006;117:2304–2316.
– Genetic testing: Warranted for any dysmorphic addressing the areas of delay. r Shevell M. Global developmental delay and mental
features, a family history of delays or genetic r Therapy could include physical therapists, retardation or intellectual disability:
disorder. A karyotype and fragile X DNA should be conceptualization, evaluation and etiology. Pediatr
considered, particularly for significant cognitive
occupational therapists, speech/language therapists,
special educators, psychologists, and audiologists, Clin North Am. 2008;55:1071–1084.
D
delays. The comparative genomic hybridization depending on the needs of the child. r Simms MD, Shum RL. Preschool children who have
(CGH) microarray is now increasingly atypical patterns of development. Pediatr Rev.
recommended as a first-line test for 2000;21:147–158.
developmental delays. ONGOING CARE
– Metabolic tests: Tests such as quantitative plasma
FOLLOW-UP RECOMMENDATIONS
amino acids, quantitative urine organic acids,
Patient Monitoring
CODES
lactate, pyruvate, or ammonia should be r General pediatric care for well-child visits and to
considered if there is any loss of skills or indication ICD9
of a metabolic disorder. monitor any underlying medical conditions is r 315.8 Other specified delays in development
– Thyroid function tests: Most infants will have had indicated.
r These children need ongoing monitoring of their r 315.9 Unspecified delay in development
screening for hypothyroidism shortly after birth.
therapy and educational programs to ensure that it (developmental disorder not otherwise specified)
This should be rechecked if symptoms indicate.
is still meeting their individual needs, as these needs ICD10
Imaging change over time. r F89 Unspecified disorder of psychological
Head MRI: Consider a head MRI for head r The families will also need ongoing counseling and
abnormalities, significant neurologic findings, loss of development
support in dealing with a child having special needs. r F88 Other disorders of psychological development
skills, or for workup of a specific disorder such as
trauma or leukodystrophy. PROGNOSIS
Diagnostic Procedures/Other Variable depending on the type and severity of delay
r Audiologic: Hearing should be checked in any child and the etiology FAQ
with speech and language and/or cognitive delays. r Q: When do you test a child for delays?
r EEG: An EEG should be considered if there is any ADDITIONAL READING r A: A child can have developmental assessments at
concern about seizures. any age, including infancy. Making a specific
r Subspecialists: Referral to other medical specialists r Battaglia A, Carey JC. Diagnostic evaluation of
diagnosis, for example, for level of mental
may also be indicated. These specialists may include developmental delay/mental retardation: An retardation, may need to wait until the child is older.
developmental pediatrics, neurology, genetics, overview. Am J Med Genet C Semin Med Genet. r Q: When can a child start receiving services?
orthopedics, or ophthalmology. 2003;117C(Feb 15):3–14. r A: Children who qualify can receive therapy services
r Council on Children with Disabilities. Identifying
DIFFERENTIAL DIAGNOSIS starting at birth and in some cases extending up to
r The differential can be extensive and may become infants and young children with developmental age 21 years.
disorders in the medical home: An algorithm for r Q: The parents are raising a concern about delays,
more evident with further workup. developmental surveillance and screening.
r Broad diagnoses include: but the general impression in the office is that the
Pediatrics. 2006;118:405–420.
– Mental retardation r Feldman HM. Evaluation and management of child is doing okay. What should be done next?
r A: Parents or grandparents may be the first to
– Developmental language disorder language and speech disorders in preschool
– Autism express concerns, especially in a child with milder
children. Pediatr Rev. 2005;26:131–140.
– Learning disability r Gilbride KE. Developmental testing. Pediatr Rev. delays. A more detailed developmental history and
– Cerebral palsy more formal developmental screening or testing
1995;16:338–345. would be indicated as an initial step.
– Attention deficit hyperactivity disorder r Gropman AL, Batshaw ML. Epigenetics, copy
– Significant visual or hearing impairment
– Degenerative disorders number variation, and other molecular mechanisms
underlying neurodevelopmental disabilities: New
insights and diagnostic approaches. J Dev Behav
Pediatr. 2010;31:582–591.
r Johnson CP, Blasco PA. Infant growth and
development. Pediatr Rev. 1997;18:224–242.

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DEVELOPMENTAL DYSPLASIA OF THE HIP

John M. Flynn

DIAGNOSTIC TESTS & INTERPRETATION

BASICS DIAGNOSIS Imaging
r AP pelvis radiograph
DESCRIPTION HISTORY – Recommended after 6 months of age; prior to
r Much higher incidence of developmental dysplasia
A range of congenital hip disorders: From mild 6 months of age, radiographs may appear normal
acetabular dysplasia to dislocation of the femoral head of the hip in breech delivery
r 10–20% of patients have familial history. because of difficulty determining hip/acetabulum
from the acetabulum relation in cartilaginous femoral head
ALERT PHYSICAL EXAM r Hip ultrasound:
Pitfalls: r Infants are tested with the Ortolani and Barlow tests. – Best test for infants 0–6 months old
r Missed early diagnosis can result in more These maneuvers involve feeling a “clunk” with – Can determine hip laxity, subluxation, dislocation,
complicated management and less favorable either gentle reduction of the dislocated femoral reducibility, presence of interposed tissue, and
outcome. head with abduction and anterior force (Ortolani) or status of the acetabulum. Can request ultrasound
r Missing an associated syndrome or condition gentle dislocation or an unstable femoral head with of the lumbosacral spine if there is a deep,
(e.g., tethered cord, arthrogryposis) adduction with posterior force (Barlow). abnormal sacral dimple raising concern about
r Mistaking a “click” for instability r Check for torticollis, metatarsus adductus, and other tethered cord
“packaging” abnormalities. – False positives: Hip “clicks” will be present in
r Check for an abnormal sacral dimple. 10% of infants; only a small percentage will have
Incidence r Although a baby with a dislocated hip may have hip dysplasia.
Incidence of hip dysplasia is 0.5–2% of live births;
however, true dislocation occurs in 0.1–0.2% of live asymmetric thigh or gluteal folds, many babies with DIFFERENTIAL DIAGNOSIS
births. normal hips have such asymmetry. r Infection
r Children >4–6 months may have a negative r Spastic hip dislocation due to cerebral palsy, closed
Genetics
Ortolani, but have limited abduction on the affected head injury, or anoxic brain injury
Many patients are first-born females, with familial
hip. The Galeazzi sign may be positive (comparing
history of affected first-degree relative.
the femoral lengths by flexing the hip and knee in
PATHOPHYSIOLOGY the supine position). TREATMENT
Owing to mechanical forces, abnormal growth, or r Walking-age children may have a Trendelenburg gait
underlying laxity, the spatial and biomechanical (lurching to the side) and a leg length inequality. ADDITIONAL TREATMENT
relationship between the femoral head and the r Physical examination tricks: General Measures
acetabulum is altered. r Triple diaper:
– The infant should be as relaxed as possible,
preferably sleeping. Check the hips first. When the – No longer considered to be effective treatment
ETIOLOGY
r Mechanical factors: baby is active or crying, it is difficult to get a good – Expensive for parents
exam. r Pavlik harness:
– Breech position
– Oligohydramnios – The infant should be examined on a firm surface. – Up to 95% effective if used <6 months of age
– Packing phenomenon (e.g., first-born child) The pelvis is stabilized with the opposite hand. – Harness is worn 24 h/d.
– Postnatal positioning (e.g., swaddling in extension – Exam or ultrasound should be performed
ALERT 2–3 weeks after initiating the harness for a
and adduction) r Examination may be normal initially.
r Laxity or genetic factors: dislocated hip to prove that the hip is reduced in
Consequently, hip evaluation should be performed the harness.
– Female
as part of infant physical examination through – Adjust straps every 3 weeks to accommodate
– Family history (∼20%)
12 months of age. growth.
– Certain ethnic groups
r Many babies have “clicks” when their hips or – After 6 consecutive weeks of treatment, reassess
– Generalized ligamentous laxity
knees are manipulated. These high-pitched with physical examination and ultrasound. Wean
snapping sensations should not be mistaken for if hip is then stable.
– Complications include avascular necrosis of
the instability felt on a properly performed
proximal femur, femoral nerve palsy (resolves
Ortolani or Barlow test.
spontaneously), skin irritation
r Closed or open reduction:
– For patients who present >6 months of age

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DEVELOPMENTAL DYSPLASIA OF THE HIP

r Bialik V, Bialik GM, Blazer S, et al. Developmental

ONGOING CARE dysplasia of the hip: A new approach to incidence. CODES
Pediatrics. 1999;103:93–99.
FOLLOW-UP RECOMMENDATIONS r Forlin E, Munhoz da Cunha LA, Figueiredo DC. ICD9
Patient Monitoring Treatment of developmental dysplasia of the hip r 754.30 Congenital dislocation of hip, unilateral
r When to expect improvement: after walking age with open reduction, femoral r 755.63 Other congenital deformity of hip (joint)
– Usually after ∼6 weeks of treatment in the Pavlik shortening, and acetabular osteotomy. Orthop Clin
harness North Am. 2006;37(2):149–160, vi. ICD10
r Signs to watch for: r Goldberg MJ. Early detection of developmental hip r Q65.2 Congenital dislocation of hip, unspecified
– A plain radiograph (anteroposterior pelvis X-ray dysplasia: Synopsis of the AAP Clinical Practice r Q65.89 Other specified congenital deformities of hip
view) is performed at 6 and 12 months. Measure Guideline. Pediatr Rev. 2001;22:131–134.
the acetabular index and check for subluxation or r Guille JT, Pizzutillo PD, MacEwen GD. Development
dislocation. Depending on the presence of residual dysplasia of the hip from birth to six months. J Am FAQ
dysplasia, later annual visits may be appropriate. Acad Orthop Surg. 2000;8:232–242.
PROGNOSIS
r Hubbard AM. Imaging of pediatric hip disorders.
r Q: Why is follow-up needed if the looseness D
disappears on examination?
If diagnosed in infancy, prognosis is generally Radiol Clin North Am. 2001;39:721–732. r A: Follow-up examinations and radiographs
excellent. r Murray KA, Crim JR. Radiographic imaging for
periodically detect late instability or acetabular
treatment and follow-up of developmental dysplasia dysplasia.
COMPLICATIONS of the hip. Semin Ultrasound CT MR. 2001;22:
r When congenital hip dysplasia results in hip r Q: How effective is the Pavlik harness if used within
306–340.
subluxation or dislocation, complaints include limp, r Portinaro NM, Pelillo F, Cerutti P. The role of the first 4 months of life?
pain, and accelerated degenerative disease of the r A: In patients with reducible hip dysplasia, the
ultrasonography in the diagnosis of developmental
hip. current success rate of the Pavlik harness is ∼95%.
r Avascular necrosis of the femoral head is a dysplasia of the hip. J Pediatr Orthop. 2007;27(2):
247–250.
complication of treatment. r Vitale MG, Skaggs DL. Developmental dysplasia of
the hip from six months to four years of age. J Am
ADDITIONAL READING Acad Orthop Surg. 2001;9:401–411.
r American Academy of Pediatrics. Clinical practice
guideline: Early detection of developmental
dysplasia of the hip (AC0001). Pediatrics. 2000;
105:896–905.
r Bauchner H. Developmental dysplasia of the hip
(DDH): An evolving science. Arch Dis Child.
2000;83:202.

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DIABETES INSIPIDUS
Sogol Mostoufi-Moab
Sheela N. Magge

r Unresponsive to antidiuretic hormone: r Familial history of diabetes insipidus:

BASICS – Familial or nephrogenic (X-linked dominant and – Nephrogenic diabetes insipidus will typically affect
autosomal recessive forms) maternal uncles during infancy, and mothers may
DESCRIPTION – Tumor related have a mild form
Polyuria and polydipsia caused by inability to produce – Urinary tract obstruction, especially in utero r Frequent episodes of dehydration requiring medical
or respond to antidiuretic hormone (ADH); also called – Renal medullary cystic disease attention:
arginine vasopressin – Electrolyte disturbances: Hypokalemia, – Families may disregard the polydipsia as normal
EPIDEMIOLOGY hypercalcemia (hypercalciuria) behavior. Repeated episodes of severe
– Drugs: Usually reversible (diuretics, dehydration can damage the brain.
Incidence diphenylhydantoin, reserpine, cisplatin, rifampin, r Treatment of adrenal insufficiency in a patient with
Because most cases are secondary to another disease, lithium [may become permanent], demeclocycline,
the incidence depends on the primary cause. panhypopituitarism can unmask diabetes insipidus.
ethanol, chlorpromazine, volatile anesthetics,
RISK FACTORS foscarnet, amphotericin B) PHYSICAL EXAM
r Signs of dehydration:
Genetics – Loss of the medullary concentrating gradient due
r Rare genetic causes of central diabetes insipidus (DI) to excessive free water intake relative to solute – Diabetes insipidus is typically associated with dry,
intake pale skin and mucous membranes. Because this is
are usually autosomal dominant mutations, and
hyperosmolar dehydration, the patient may not
rarely recessive. ALERT
r Nephrogenic DI is usually familial (autosomal look as severely dehydrated as she or he is.
Pitfalls: r Complete neurologic exam:
recessive or dominant and X-linked). r Management of patients without an intact thirst – Check for impaired visual fields, which can be the
PATHOPHYSIOLOGY mechanism and of newborns is difficult. 1st sign of brain tumor.
r Antidiuretic hormone stimulates the formation of r Patients with psychogenic polydipsia may fail a
DIAGNOSTIC TESTS & INTERPRETATION
cyclic adenosine monophosphate (cAMP) in the water deprivation test because prolonged
renal collecting ducts, thereby increasing water Lab
excessive water intake can wash out the renal r Morning urinary osmolality with simultaneous serum
permeability and increasing reabsorption of free medullary gradient required for concentrating the
water. sodium and serum osmolality:
urine. – If urine osmolality is at least 2 times higher than
r Lack of antidiuretic hormone effect results in urinary r Surreptitious water intake during water serum osmolality, patient does not have complete
loss of free water.
r Patients with an intact thirst mechanism drink deprivation test diabetes insipidus, but may still have partial
r Idiopathic, acquired diabetes insipidus can be diabetes insipidus.
copiously (polydipsia) to compensate for free water r Water deprivation test:
loss. caused by slowly growing brain tumors not visible
r If the thirst mechanism is not present or if access to on the initial magnetic resonance image. – Though definitive, it requires admission to the
hospital for controlled testing under the close
free water is limited (e.g., infants or vomiting), supervision of a pediatric endocrinologist. Patient
severe dehydration can occur. fails test if urinary osmolality cannot concentrate
DIAGNOSIS
ETIOLOGY more than twice serum osmolality at the same
r Insufficient antidiuretic hormone secretion: HISTORY time that serum osmolality exceeds 305 mOsm/kg;
– Traumatic or postsurgical r Abnormal growth can be a sign of diabetes serum osmolality exceeds 305 mOsm/kg at any
– Nonaccidental injury in children insipidus. time; patient loses >5% of body weight and
– Related to tumor invasion of posterior pituitary r Waking up during the night to drink or void: becomes symptomatic from hypovolemia.
– Extension from anterior pituitary/suprasellar: Optic – True diabetes insipidus is associated with polyuria – Once patient fails the water deprivation test, a
glioma, rarely adenomas throughout the day and night. Enuresis may be the dose of aqueous vasopressin should be given
– Hypothalamic: Germinoma, craniopharyngioma, 1st sign in a child who previously acquired bladder followed by close monitoring of urinary osmolality
meningioma control. Patients, including infants, prefer cold to document responsiveness to antidiuretic
– Lymphoma water to other liquids such as juice, soda, or milk. hormone.
– Granulomas: Histiocytosis X, sarcoidosis r Number of hours the patient goes without – Never attempt a water deprivation trial at home.
– Metastatic carcinoma drinking: Tell parents to allow free access to water at home
– Post–severe ischemic or hypoxic injury to the brain – Patients with complete diabetes insipidus do not in any suspected cases.
– Familial (autosomal dominant) r Urinary specific gravity (nonspecific):
voluntarily stop drinking for >1–2 hours unless
– Congenital malformation of CNS the thirst mechanism is also abnormal. – Insufficient by itself and nondiagnostic during a
– Infection – Patients with diabetes insipidus have such water deprivation test
– Viral encephalitis overwhelming thirst, they will drink anything, r 24-hour urine collection (home testing):
– Meningitis including bath and toilet water. – To obtain accurate urinary volume while patient
– Tuberculosis r Volume of urine output in a day (not just frequency has free access to water
– Increased metabolic clearance of antidiuretic of urination):
hormone (gestational diabetes insipidus) – The daily volume of urine can be as high as
– Drug or toxin related: Snake venom, tetrodotoxin 4–10 L. Younger or dehydrated children with
– Autoimmune disorders: Hypophysitis diabetes insipidus tend to make less urine daily
– Psychogenic: Excessive water drinking than older or hydrated children with diabetes
– Idiopathic: Must observe for many years to insipidus.
exclude slow-growing tumors

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DIABETES INSIPIDUS

Imaging r Side effects: COMPLICATIONS

MRI of the brain with and without contrast, with – Facial flushing r Without treatment and without access to water:
special cuts of the pituitary and hypothalamus - to – Increased BP – Hypernatremia
confirm the bright spot normally seen in the posterior – Headache – Dehydration
pituitary and to search for tumors. Its absence is not – Nasal congestion – Coma
pathognomonic of diabetes insipidus. – Hyponatremia: Caused by water overdose r When overdosed with water:
(intoxication), not by overdose of drug. Taking a – Hyponatremia
ALERT higher dose of DDAVP will generally extend the – Seizures
Do not restrict water intake unless the patient is in period of antidiuresis, but will not cause – Cerebral edema
the hospital under close surveillance! hyponatremia. Drinking too much water in the
setting of antidiuresis causes hyponatremia. Water
DIFFERENTIAL DIAGNOSIS
r Psychogenic polydipsia
intoxication most often occurs in antidiuresed ADDITIONAL READING
patients who also are on intravenous fluids, lack r Ghirardello S, Garre ML, Rossi A, et al. The diagnosis
r Abnormal thirst mechanism (dipsogenic diabetes an intact thirst mechanism, or have psychogenic
insipidus)
r Hypernatremic dehydration
polydipsia. of children with central diabetes insipidus. J Pediatr
Endocrinol Metab. 2007 Mar;20(3):359–375.
D
r Duration:
r Diabetes mellitus r Linshaw MA. Back to basics: Congenital
– Lifelong generally. Some tumors regress with
r Polyuric renal failure (e.g., renal tubulopathy) radiation, allowing recovery of antidiuretic nephrogenic diabetes insipidus. Pediatr Rev. 2007;
r Hypercalcemia hormone secretion. 28(10):372–380.
r Possible conflicts with other treatments: r Majzoub JA, Srivatsa A. Diabetes insipidus: Clinical
r Adrenal insufficiency
r Cerebral salt wasting – Nasal congestion or GI illness can affect the and basic aspects. Pediatrc Endocrinol Rev. 2006;
absorption of DDAVP administered. 4(Suppl 1):60–65.
r Ranadive SA, Rosenthal SM. Pediatric disorders of
TREATMENT water balance. Endocrinol Metab Clin North Am.
ONGOING CARE 2009;38(4):663–672.
r Rivkees SA, Dunbar N, Wilson TA. The management
MEDICATION (DRUGS) FOLLOW-UP RECOMMENDATIONS
r DDAVP: Intranasal spray or oral tablets of central diabetes insipidus in infancy:
r Aqueous vasopressin: SC: Patient Monitoring Desmopressin, low renal solute load formula,
r Depends on the patient and underlying disease
– Comes as 4 mcg/mL solution and doses range thiazide diuretics. J Pediatr Endocrinol Metab. 2007;
causing diabetes insipidus 20(4):459–469.
from 0.05 mcg up to 1 mcg SC b.i.d. daily. Titrate r When to expect improvement:
dose as you would with DDAVP.
r Duration of action of DDAVP is variable from patient – Effects of DDAVP are immediate.
to patient. Titration and frequency of dosing should
– Most cases of diabetes insipidus are lifelong. CODES
1 exception is diabetes insipidus that occurs
be made by the family under the supervision of an
during the 7–10 days immediately after ICD9
endocrinologist.
r Control of diabetes insipidus in infants is more neurosurgery, since this postsurgical diabetes r 253.5 Diabetes insipidus
insipidus may resolve spontaneously within r 588.1 Nephrogenic diabetes insipidus
difficult because these patients may increase fluid 1–2 weeks after surgery (part of triple-phase
intake because of hunger or increase caloric intake response). ICD10
because of thirst, thereby causing an imbalance r Signs to watch for: r E23.2 Diabetes insipidus
between free water intake and output. Infants can r N25.1 Nephrogenic diabetes insipidus
– Lethargy
be treated with diluted formula—the volume and
– Somnolence
frequency of feedings will be increased, but intake
– Irritability
of free water will better match urine output. DDAVP
should not be used in infants. In some cases, low
– Hyperpyrexia FAQ
– Any sign of dehydration
renal solute load formula (e.g., Similac PM 60/40) r Q: In a patient with an intact thirst mechanism and
– Seizures
and/or thiazide diuretics have been used in infancy. partial diabetes insipidus, is the use of DDAVP
Strict record keeping of intake/output and accurate DIET necessary?
daily weighing are usually necessary for infants or r Patients with an intact thirst mechanism should r A: No, as long as the patient has constant access to
patients without an intact thirst mechanism. All drink only when thirsty. free water.
infants with diabetes insipidus must be treated by r Patients without an intact thirst mechanism should r Q: How does therapy of diabetes insipidus affect
providers experienced with diabetes insipidus of drink only a carefully calculated fluid volume. daily life? Is it easily integrated into normal activity
infancy.
r Nephrogenic diabetes insipidus may be treated with PROGNOSIS and eating patterns?
r Generally good, but depends on the primary cause r A: DDAVP is used in a patient with an intact thirst
diuretics and solute restriction as these patients are r May cause developmental delay if the mechanism to facilitate the daily routine as well as
resistant to DDAVP.
hypernatremia is prolonged to allow patients to sleep without the need to void
frequently during the night.
r Q: Is there a longer-acting preparation or an
implantable pump for dosing?
r A: The longest-acting form of antidiuretic hormone
is an injected medication and can have effects for
3 days, increasing the risks of hyponatremia. Home
use of the nasal spray or tablets, therefore, is easier
and safer than the use of injections.

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DIABETES MELLITUS
David R. Langdon

ETIOLOGY DIAGNOSTIC TESTS & INTERPRETATION

BASICS r Type 1 DM:
Lab
– In genetically susceptible child, an environmental r Diagnosis based on blood glucose (BG) level:
DESCRIPTION trigger (likely viral) induces expression of DR Fasting BG ≥126, random BG ≥200 mg/dL, or
Diabetes mellitus (DM) is a disorder of absolute or antigens on β-cell surface. 2-hour BG ≥200 on oral glucose tolerance test
relative insulin deficiency that results in hyperglycemia – Recruitment of cytotoxic lymphocytes (OGTT), and exclusion of stress hyperglycemia
and disrupts energy storage and metabolism. Severe – Production of anti-insulin and anti-islet cell r Glycosuria may be intermittent.
insulin deficiency can lead to ketosis, acidosis, antibodies (GAD65, ICA512) r Ketonuria may occur with both types 1 and 2.
dehydration, shock, and death. – Progressive inflammatory, autoimmune loss of r Hemoglobin A1c reflects BG levels of previous
EPIDEMIOLOGY β-cell mass results in insulin deficiency.
r Type 2 DM: 2–3 months and is nearly always elevated at
r Most common endocrine disorder of childhood diagnosis of both types.
r Type 1 DM: More common in whites of Northern – Insulin sensitivity diminishes owing to obesity and r GAD, islet cell, and/or insulin autoantibodies nearly
European descent other factors.
always positive in type 1 diabetes, but sometimes in
r Type 2 DM: More common in obese African – Insulin resistance leads to compensatory
type 2 as well
hyperinsulinemia to maintain euglycemia. r In some patients presenting with hyperglycemia and
Americans, Latinos, and Native Americans with r In genetically susceptible persons, insulin secretion
strong family history ketosis, it is not possible to distinguish type 1 or
fails to match demand, resulting in relative
Incidence type 2 until the course over several months has been
deficiency and hyperglycemia.
r Type 1 DM: followed.
COMMONLY ASSOCIATED CONDITIONS r Some, but not all, adolescents with IGT or impaired
– Annual US incidence is ∼19/100,000 in children r Type 1 DM: Autoimmune thyroid disease
10–19 years old. fasting glucose (IFG) will progress to type 2
r Type 2 DM: diabetes.
– Incidence of type 1 DM is rising by 3% per year,
but faster in young children. – Obesity – IGT is 2-hour glucose between 140 and 200
r Type 2 DM: – Depression during OGTT.
– Incidence is increasing rapidly in adolescents. – Hypertension – IFG is fasting glucose between 100 and 125.
– May be 8–45% of new cases of diabetes in youth, – Fatty liver
DIFFERENTIAL DIAGNOSIS
depending on location – Hyperlipidemia r UTI (polyuria)
– Sleep apnea r Renal glycosuria
Prevalence – Polycystic ovary syndrome
r Type 1 DM: Prevalence of type 1 diabetes in youth r Stress-related hyperglycemia
0–19 years in US is ∼2/1,000. r Drug-induced hyperglycemia (steroids)
r Type 2 DM: DIAGNOSIS r Psychogenic polydipsia
– Estimated prevalence of type 2 DM in youth of r Pneumonia (in diabetic ketoacidosis [DKA])
4.1/1,000 HISTORY r Sepsis (in DKA)
r Polyuria, nocturia, and enuresis are related to
– Estimated prevalence of impaired glucose r Acute surgical abdomen (in ketoacidosis)
tolerance (IGT) in youth at least 2/1,000 hyperglycemia >180 mg/dL.
r Polydipsia: Due to polyuria, hyperosmolality
– At least 2% of diabetes in children may be due to
r Duration of symptoms varies by age: May be days in
monogenic diabetes of youth (MODY) or other TREATMENT
genetic forms toddlers, months in adolescents
r Polyphagia: Appetite amplified by loss of calories MEDICATION (DRUGS)
RISK FACTORS
from glycosuria; this is often absent. (See insulin regimens under “General Measures.”)
Genetics r Weight loss: Dehydration, loss of calories In type 2 diabetes, insulin is usually used for
r Susceptibility to type 1 diabetes associated with HLA
r Malaise, nausea, vomiting, abdominal pain, symptomatic hyperglycemia. Oral antidiabetic agents
region of chromosome 6, 5-fold greater risk with
hyperventilation, lethargy due to ketosis, acidosis, may be effective for milder hyperglycemia:
MHC antigen types DR3 and DR4 r Metformin is the only oral agent approved for
r Multiple genetic defects associated with type 2 electrolyte depletion, hyperosmolality
r Type 2 diabetes may present like type 1 or may be children; it reduces hepatic glucose output.
diabetes have been identified. r Other agents may be useful in certain
r MODY is a group of autosomal dominant syndromes entirely asymptomatic.
r MODY is usually asymptomatic. circumstances: Sulfonylureas, glinides,
of partial insulin deficiency due to monogenic
defects of pancreatic development or insulin thiazolidinediones, α-glucosidase inhibitors,
PHYSICAL EXAM
secretion; they make up a small fraction of r Weight loss may occur in type 1 diabetes. exendin, dipeptidyl protease inhibitors.
childhood diabetes. r Candidal vaginitis and balanitis common in young ADDITIONAL TREATMENT
PATHOPHYSIOLOGY children with type 1 diabetes General Measures
r Type 1 DM: r In ketoacidosis: Dehydration, hyperventilation Insulin is given as a fixed or flexible regimen:
– Loss of pancreatic β cells results in insulin r Obesity and acanthosis nigricans (hypertrophic skin r Total daily dose (TDD) usually ∼0.7–1.2 U/kg/d;
deficiency, leading to hyperglycemia, and pigmentation of neck) in type 2 choose higher range for ketoacidosis presentation,
predominance of catabolic processes. obesity, and puberty.
– Hyperglycemia causes hyperosmolality, polyuria, r Dose may decline during “honeymoon period.”
and damage to small blood vessels. r Fixed insulin regimens require fewer shots, but
– Catabolic processes produce ketosis, weight loss, consistent schedule and eating.
and metabolic acidosis.
r Type 2 DM: Insulin resistance and relative deficiency
lead to hyperglycemia, β-cell exhaustion, and
changes similar to those in type 1, but initially with
greater potential for temporary reversibility.

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DIABETES MELLITUS

r Common fixed regimen is split-mixed: 2/3 of TDD in r In type 2 diabetes, dietary education is directed r Karam JG, McFarlane SI. Prevention of type 2 DM:
morning (1/3 as short acting and 2/3 long acting), toward promoting weight loss. Implications for adolescents and young adults.
and 1/3 of TDD in evening (with 1/2 as short acting r Reduction of saturated and trans fats, rapidly Pediatr Endocrinol Rev. 2008;5(Suppl 4):
and 1/2 as long acting), either at dinner or split digested carbohydrates, and salt may be beneficial 980–988.
between dinner and bedtime. in both types of diabetes. r Nguyen TM, Mason KJ, Sanders CG, et al. Targeting
r Flexible insulin regimens consist of basal insulin plus blood glucose management in school improves
PATIENT EDUCATION
a short-acting bolus for every carbohydrate meal r Home BG monitoring before meals, when feeling glycemic control in children with poorly controlled
and for high blood sugar. type 1 diabetes mellitus. J Pediatr. 2008;153(4):575.
r Basal dosing: 40–50% of TDD is given as 1 injection hypoglycemic or ill r Pinhas-Hamiel O, Zeitler P. Acute and chronic
r Insulin injection and site rotation
of a long-acting insulin such as glargine (Lantus) or r Oral carbohydrate for mild hypoglycemia; glucagon complications of type 2 diabetes mellitus in children
detemir (Levemir). and adolescents. Lancet. 2007;369:1823–1831.
r Boluses of short-acting insulin (lispro or aspart) are 1 mg IM for severe hypoglycemia r Sperling M, ed. Diabetes mellitus in children:
r Activity:
given for meals and snacks based on carbohydrate Pediatric clinics of North America. Philadelphia: WB
content and BG. Carbohydrate coverage (grams of – Frequent exercise reduces BG and insulin Saunders; 2005:1533–1872.
carbohydrate covered by 1 unit) can be estimated by requirements in both types of diabetes. r Steinke JM, Mauer M. Lessons learned from studies D
dividing the TDD into 500. Hyperglycemia coverage – Exercise may require extra eating or reduced
of the natural history of diabetic nephropathy in
can be estimated by dividing the TDD into 1,800 to insulin to prevent hypoglycemia in type 1 diabetes.
young type 1 diabetic patients. International
find how much 1 unit may lower blood sugar. – Detecting or preventing hypoglycemia during or
Diabetic Nephropathy Study Group. Pediatr
r SC insulin infusion by pump is another flexible after physical exercise
r Diet: Carbohydrate counting Endocrinol Rev. 2008;5(Suppl 4):958–963.
method: Dosing is similar. r Weiss R, Dufour S, Taksali SE, et al. Prediabetes in
r Prevention: Checking urine for ketones when blood
SURGERY/OTHER PROCEDURES obese youth: A syndrome of impaired glucose
sugar is high or child feels ill; extra insulin for tolerance, severe insulin resistance, and altered
Weight loss from bariatric surgery may reverse type 2 ketones
diabetes. myocellular and abdominal fat partitioning. Lancet.
COMPLICATIONS 2003;362:951–957.
r DKA: Most common cause of hospitalization and
ONGOING CARE death in type 1 diabetes in childhood. See “Diabetic
FOLLOW-UP RECOMMENDATIONS
Ketoacidosis.” CODES
r Hypoglycemia: This most common acute
Patient Monitoring complication limits achievable glycemic control. If ICD9
r Regular appointments with diabetes specialist every
severe, may cause seizure, unconsciousness r 250.00 Diabetes mellitus without mention of
3 months to assess management: r Long-term harm may be reduced by better glycemic complication, type II or unspecified type, not stated
– Is diabetes interfering with emotional health,
control: as uncontrolled
family relationships, school attendance, athletic r 250.01 Diabetes mellitus without mention of
– Nephropathy: Microalbuminuria and hypertension
activities, or social development?
are 1st manifestations before adulthood. complication, type I [juvenile type], not stated as
– Is family minimizing hospitalization risks from
– Retinopathy: Blood vessel changes may occur in uncontrolled
hypoglycemia or DKA with appropriate r 250.02 Diabetes mellitus without mention of
childhood, but not vision loss.
adjustment of insulin, recognition of lows,
– Neuropathy: Diminished nerve conduction velocity complication, type II or unspecified type,
glucagon availability, ketone testing, and
common; paresthesias are earliest symptoms. uncontrolled
telephone contact?
– Vasculopathy: Large-vessel disease begins in
– Is family reducing long-term complication risk by ICD10
childhood, but clinical effects occur in adults. r E10.8 Type 1 diabetes mellitus with unspecified
keeping HbA1c lower and by avoiding or treating
– Prenatal harm to infants of diabetic mothers: Birth
other risk factors? complications
defects occur early, large size late.
– Exam: Growth, weight, pubertal status, blood r E10.9 Type 1 diabetes mellitus without
– Growth failure (Mauriac syndrome) and delayed
pressure, thyromegaly, liver size, injection sites, complications
sexual maturation
feet, skin lesions r Depression, family stress, higher divorce rate r E11.8 Type 2 diabetes mellitus with unspecified
r Meet with nutritionist periodically or as needed to
complications
reassess meal plan.
r Meet with psychologist or social worker as needed
ADDITIONAL READING
to address psychosocial issues.
r Annual screening for long-term complications: r American Diabetes Association. Clinical practice FAQ
recommendations: 2011. Diabetes Care. r Q: What is the newest management tool?
– Urine for microalbumin
– Lipid profile, T4 , TSH, celiac screen 2011;34:S1. r A: Continuous glucose sensors allow patients to
– Eye exam to detect early retinopathy r American Diabetes Association. Type 2 diabetes in avoid symptomatic high and low glucoses by
children and adolescents. Pediatrics. 2000;105: detecting trends, to see the outcome of
DIET 671–680. management decisions, and to reduce the risk of
r Dietary education for type 1 diabetes is directed
r Juvenile Diabetes Research Foundation Continuous severe nocturnal hypoglycemia.
toward healthy distribution and matching of r Q: What is the risk of diabetes in a sibling or child of
Glucose Monitoring Study Group, Tamborlane WV,
carbohydrate intake with insulin action:
Beck RW, Bode BW, et al. Continuous glucose a person with type 1 DM?
– Recommended distribution of calories: 55% from r A: It is 5–10% in 1st-degree relatives (siblings,
monitoring and intensive treatment of type 1
carbohydrates (mostly complex); 30% from fats;
diabetes. N Engl J Med. 2008;359(14):1464–1476. offspring) and 40–50% in identical twins.
15% from protein
– Fixed insulin regimens require snacks spaced
between meals and before bedtime.
– Carbohydrate counting is essential for flexible
insulin regimens and helpful for maintaining
consistency for fixed regimens.

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DIABETIC KETOACIDOSIS
David R. Langdon

r Counterregulatory hormones amplify glucose r Potassium: Initial serum levels are usually elevated
BASICS production, impair peripheral uptake, and increase but may be normal or low. Regardless of initial K,
proteolysis and lipolysis. body K is depleted.
DESCRIPTION r Lipolysis and ketosis produce metabolic acidosis. r Total CO or bicarbonate reflects degree of
2
r Severe metabolic derangement that occurs in
Hyperglycemia produces hyperosmolality, leading to metabolic acidosis and is a useful index of severity:
patients with diabetes mellitus, either type 1 or osmotic diuresis, dehydration, and urinary – HCO3 <4 mmol/L is severe, reflects pH <7
untreated type 2, secondary to insulin deficiency and electrolyte loss. – HCO3 4–14 mmol/L is moderate, will require
stress hormone excess r Approximate deficits per kilogram of body weight: >8 hours of treatment to reverse
r Principal features are hyperglycemia, ketosis, – HCO3 15–20 mmol/L is mild, may respond to a
– Water: 100 mL/kg
metabolic acidosis, dehydration, and electrolyte – Na: 6–10 mEq/kg, K: 3–5 mEq/kg few hours of fluids and insulin
deficits. – Cl: 3–5 mEq/kg, PO4 : 5–7 mmol/kg r Phosphate: Initially normal, high, or low:
EPIDEMIOLOGY – Despite initial level, whole-body P is depleted.
ETIOLOGY r Arterial blood gas reflects metabolic acidosis, with
Incidence r Insulin deficiency due to unrecognized development
r Up to 67% of diabetic ketoacidosis (DKA) occurs at of either type 1 or type 2 diabetes low pH (<7.3) and low pCO2 (10–20 mmol/L).
r Inappropriate withholding or reduction of insulin r CBC: Stress may increase white cell count to
diabetes onset; higher percentage in children
<4 years and in families with lower socioeconomic during acute illness 35,000/mm3 even without infection.
r Overwhelming acute illness r β-Hydroxybutyrate and serum ketones are elevated
status (SES)
r Annual hospitalization rates for DKA are around r Insulin omission due to parental disengagement, (BOHB typically >5 mmol/L).
r Hypertriglyceridemia may be high enough to depress
10/100,000 children per year. eating disorder, psychosocial stress, substance
r Risk of DKA in established type 1 diabetes is 1–10% electrolyte levels in unseparated plasma.
abuse, or interruption of insulin pump r Liver enzymes (ALT, AST) may be mildly elevated.
per patient per year.
r DKA accounts for 65% of all hospital admissions in COMMONLY ASSOCIATED CONDITIONS r Amylase and lipase are often mildly elevated.
Candidal vaginitis or balanitis r Plasma osmolality is high, and can be estimated by
diabetic children <19 years old.
r DKA accounts for >50% of childhood deaths from 2(Na + K) + (BUN/2.6) + (glucose/18).
diabetes. DIAGNOSIS DIFFERENTIAL DIAGNOSIS
r Gastroenteritis
RISK FACTORS HISTORY
r Poor metabolic control r Polyuria, polydipsia from hyperosmolality r Acute abdomen (pancreatitis, appendicitis)
r Previous episodes of DKA r Nausea, vomiting, and abdominal pain are related r UTI
r Adolescent girls r Pneumonia
to acidosis and electrolyte disturbance.
r Lower SES r Precipitating event (e.g., intercurrent illness) should r Stress hyperglycemia
r Salicylate ingestion
GENERAL PREVENTION be identified if possible.
r Timely recognition of new diabetes in children, r Inborn error of metabolism
PHYSICAL EXAM r Nonketotic hyperosmolar coma
especially toddlers, with polyuria and polydipsia r Dehydration effects: Tachycardia, dry mucous
r Anticipatory illness management education to check r Adrenal crisis
membranes, sunken eyes, poor skin turgor, poor
ketones when feeling ill or glucose is high, to take distal perfusion, hypotension
extra insulin, and to call if ketones persist r Acetone odor to breath from ketosis TREATMENT
r Parental supervision of insulin injections and early r Deep Kussmaul hyperventilation is respiratory
ketone testing can prevent most recurrent DKA. compensation for metabolic acidosis. ADDITIONAL TREATMENT
Psychosocial assessment and family counseling may r Abdominal tenderness due to ketosis, acidosis General Measures
be useful but are no substitute for parental r Altered mental status, obtundation due to Use of a DKA protocol improves outcomes.
participation in the diabetes care.
r Recognition of insulin omission to control weight, hyperosmolality, dehydration ISSUES FOR REFERRAL
r Body temperature is typically low.
and appropriate education or counseling Refer to a pediatric endocrine service for initial
r Understanding by patient and family that DIAGNOSTIC TESTS & INTERPRETATION diabetes education or for recurrent DKA.
interruption of insulin pump for more than 8 hours Lab IN-PATIENT CONSIDERATIONS
may result in DKA. r Glucose: >200 mg/dL (typically 400–1,200)
Initial Stabilization
r Urinalysis: Marked glycosuria and ketonuria r Assess and ensure airway and breathing.
PATHOPHYSIOLOGY
r DKA results from a combination of insulin deficiency r Sodium: Initial Na may be low, normal, or high: r Restore circulation: Normal saline bolus of
and metabolic stress effects. – Serum Na reflects duration and severity of 10–20 mL/kg; repeat as needed to maintain
r Insulin deficiency may be absolute (new diabetes or hyperglycemia, duration and degree of perfusion:
omitted insulin) or relative (insufficient dose to dehydration, and degree of hyperlipidemia. – Urine output and specific gravity do not reflect
offset illness stress). – Prolonged hyperglycemia depresses Na by about hydration because of osmotic diuresis.
r Metabolic stress involves counterregulatory 1.6 mEq/L for every 100 mg/dL of elevation, but – Avoid giving more fluids than necessary to reverse
hormones glucagon, cortisol, and epinephrine, Na may rise as dehydration becomes extreme or prevent shock. Rapid osmolar correction may
triggered by acute illness or insulin deficiency. (BUN >30 mg/dL). incur cerebral edema risk.
– Disproportionately low initial Na may indicate – Determine adequacy of hospital support or
severe hyperlipidemia or adrenal crisis. arrange transfer. Management of moderate or
– Whole-body Na is depleted. severe DKA requires frequent nursing attention
and rapid availability of physician.

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DIABETIC KETOACIDOSIS

IV Fluids r Cardiovascular collapse and death from shock

r Amount and rate of IV fluids: usually due to delay or interruption of IV fluids, or to CODES
– Assume 10% dehydration, 15% in infants. inadequate fluid rates:
– Replace evenly over 24–48 hours. – Leads to hypovolemic shock and shock damage to ICD9
– Add maintenance rate to rehydration rate for total kidneys, other organs r 250.10 Diabetes with ketoacidosis, type II or
IV rate but do not add additional fluid to replace – Give isotonic IV fluid to restore perfusion. unspecified type, not stated as uncontrolled
ongoing urine output. r Some complications are largely avoidable: r 250.11 Diabetes with ketoacidosis, type I [juvenile
– Increase rate for inadequate renal or body – Hypo- and hyperkalemia can cause arrhythmias. type], not stated as uncontrolled
perfusion. Decrease rate for suspected cerebral Hypokalemia often from delayed K replacement.
edema or pulmonary edema. Hyperkalemia can occur if K boluses given as ICD10
r Composition of IV fluids: Tonicity and Na: r E10.10 Type 1 diabetes mellitus with ketoacidosis
“catch-up,” or renal failure or rhabdomyolysis.
– Start with normal saline. Change to 1/2 normal – Hypoglycemia can be avoided with frequent without coma
r E13.10 Other specified diabetes mellitus with
when circulation is secure and Na is >130. glucose checks.
– IV fluids should contain K after the 1st hour, or – Hypocalcemic tetany usually results from excessive ketoacidosis without coma
when anuric renal failure or extreme hyperkalemia phosphate replacement. r E13.11 Other specified diabetes mellitus with D
is ruled out. – Hypernatremia reflects prolonged normal saline or ketoacidosis with coma
r Composition of IV fluids: Potassium: bicarbonate, or inadequate water.
– Should contain K at 40 mEq/L, often 1/2 KCl and r Other complications, not directly attributable to
1/2 K phosphate (never all phosphate) treatment, can occur in severe cases: FAQ
– Problems from inadequate or excessive K are rare – Pulmonary edema or acute respiratory distress r Q: What are the usual triggers for DKA?
if K replacement is begun early by gradual infusion syndrome (ARDS) r A: Mismanagement of minor illness, or omissions of
without boluses, riders, or high central line – Pneumomediastinum from hyperventilation
concentrations. – Rhabdomyolysis insulin due to lack of parental education or
r Composition of IV fluids: Glucose: – Thrombosis, especially at central line site participation.
r Q: What are the most common management errors
– Add 5% dextrose to IV stock when blood glucose – Disseminated intravascular coagulation (DIC)
<300 mg/dL. – Rhinocerebral mucormycosis that contribute to a poor outcome?
– Gastric atony and dilatation r A: Failure to recognize early DKA, prolonged
– Change to 10% dextrose when glucose
<200 mg/dL so that full insulin rate can continue. – Pancreatitis telephone management, delayed fluid start,
excessive fluid in emergency department, delayed K
replacement, bolus bicarbonate use, inadequate
ONGOING CARE ADDITIONAL READING fluids for fear of cerebral edema, failure to monitor
r Dunger DB, Sperling MA, Acerini CL, et al. European closely, failure to respond quickly to mental status
FOLLOW-UP RECOMMENDATIONS changes.
Patient Monitoring Society for Paediatric Endocrinology/Lawson Wilkins r Q: Does an episode of DKA mean that the usual
For severe DKA, the following monitoring measures Pediatric Endocrine Society consensus statement on
daily insulin regimen is inadequate?
are usually warranted: diabetic ketoacidosis in children and adolescents. r A: No. The usual regimen is best assessed by
r Nearly continuous observation to detect changes of Pediatrics. 2004;113:e133–e140.
r Glaser N. Pediatric diabetic ketoacidosis and hemoglobin A1c and hypoglycemia frequency. DKA
mental status or respiration or perfusion indicates missed insulin or a failure to respond to an
r Cardiorespiratory monitor with hourly blood pressure hyperosmolar state. Pediatr Clin North Am.
unusual situation.
r Hourly intake and output 2005;52:1611–1635.
r Glaser N, Barnett P, McCaslin I, et al. Risk factors
r Hourly glucose checks
r Electrolytes every few hours for cerebral edema in children with diabetic
ketoacidosis. N Engl J Med. 2001;344:264–269.
PROGNOSIS r Green SM, Rothrock SG, Ho JD, et al. Failure of
Mortality of DKA in children is ∼0.2–0.3%. adjuvant bicarbonate to improve outcome in severe
pediatric diabetic ketoacidosis. Ann Emerg Med.
COMPLICATIONS 1998;31:41–48.
r Death in childhood DKA results from cerebral edema
r Orlowski JP, Cramer CL, Fiallos MR. Diabetic
(57–87%) or cardiovascular collapse.
r Cerebral edema refers to several forms of acute ketoacidosis in the pediatric ICU. Pediatr Clin North
Am. 2008;55(3):577–587, x.
neurologic catastrophe, especially brainstem
herniation and stroke:
– Highest-risk patients are youngest, and those with
most severe dehydration and acidosis.
– Cause of brain swelling still unsettled: Hypotheses
include water influx as osmolality falls or excessive
blood flow.
– Commonly occurs 6–18 hours into treatment,
often as patient is improving
– Heralded as headache, change in mental status,
focal neurologic signs, rising blood pressure, or
unexpected drop of serum Na
– From neurologic changes, brain herniation and
respiratory arrest may occur rapidly.
– Treatment of suspected cerebral edema includes
slowing of IV fluids, mannitol 0.5–1.0 g/kg by IV
infusion over 15 minutes.
– Obtain CT scan to confirm brain swelling only if
patient can be treated during procedure.
– Prepare to intubate and ventilate if arrest occurs.

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DIAPER RASH
Kara N. Shah

PATHOPHYSIOLOGY r Chemicals, dyes, and fragrances in lotions, wipes,

BASICS Diaper rashes are the result of several different diapers, and detergents can cause irritant or allergic
processes, alone and in combination: contact dermatitis.
DESCRIPTION r Friction and maceration: Rubbing of wet diapers r Frequent bathing can lead to worsening of a
Also known as diaper or napkin rash, diaper dermatitis against exposed skin in areas such as the inner pre-existent dermatitis. Parents often think a diaper
is a general term that encompasses a spectrum of skin surface of the thighs, genitals, buttocks, and rash represents poor hygiene and as a result
disorders of varying etiologies that share a common abdomen may result in chafing and irritation. increase the cleansing of the affected area, further
distribution. Diaper dermatitis is not necessarily r Irritation: Prolonged exposure to irritants such as contributing to irritation.
associated with wearing diapers. feces, urine, and skin cleansers can cause skin r Signs and symptoms:
ALERT breakdown that predominantly affects exposed – Irritant diaper dermatitis and that caused by group
r Often the caretaker believes the rash is a result of areas under the diaper, sparing intertriginous areas. A β-hemolytic Streptococcus or S. aureus can be
inadequate cleansing of the skin and subsequently Occlusion potentiates the effects of irritants. painful.
r Inflammation: Both infectious and noninfectious – Rarely, seborrheic dermatitis and psoriatic
attempts to wash the skin more. This causes
processes can trigger an acute or chronic dermatitis can be mildly pruritic but are generally
additional irritation and exacerbates the
inflammatory response in the diaper area. asymptomatic.
underlying dermatitis.
r Severe cases of diaper dermatitis may be ETIOLOGY PHYSICAL EXAM
r Infection: r The location of the rash should be carefully noted:
complicated by bacterial or fungal infection and
may require treatment with topical or systemic – Candida albicans: Infection is common during or – Exposed surfaces: Allergic or irritant contact
antibiotics. immediately after use of systemic antibiotics and dermatitis, S. aureus infection
with any moderate to severe diaper dermatitis. It – Intertriginous areas: Seborrheic dermatitis,
is often seen in combination with oral candidal candidal infection, group A β-hemolytic
EPIDEMIOLOGY
infections (thrush). Streptococcus infection
Prevalence – Perianal: Group A β-hemolytic Streptococcus
r Diaper dermatitis is significantly more common in – Group A β-hemolytic Streptococcus: The most
common bacteria associated with diaper (more common); S. aureus (less common)
infants and children who are still in diapers and r The morphology of the dermatitis is of primary
dermatitis
generally resolves when diapers are no longer worn. importance:
r It affects 7–35% of the infant population at any – Staphylococcus aureus: Increasingly recognized as
a potential cause of infection in the diaper area – Greasy erythema and scaling suggests seborrheic
given time and is most commonly found in the r Inflammation: dermatitis.
9–12-month age group. – Well-demarcated, shiny, erosive erythematous
– Seborrheic dermatitis: In infants, usually involves
RISK FACTORS the scalp (cradle cap) and face as well as the perianal patches suggest group A β-hemolytic
r Concomitant skin disease, such as seborrheic diaper area and other intertriginous areas. It is Streptococcus.
dermatitis and atopic dermatitis presumably related to an inflammatory response – Scattered inflammatory papules or pustules
r Acute or chronic conditions associated with to skin colonization with the common skin yeast suggest S. aureus.
increased stooling, diarrhea, or urinary incontinence, Malassezia. – Erythematous patches with peripheral
such as infectious gastroenteritis and enuresis – Allergic contact dermatitis: May be caused by erythematous papules with scaling suggest a
exposure to detergents, fragrances, or dyes in candidal infection.
GENERAL PREVENTION diapers, wipes, or topical medications used in the – Indurated red-brown subcutaneous nodules
r Proper skin care with gentle cleansing with a mild,
diaper area suggest granuloma gluteale infantum.
nonsoap cleanser such as Cetaphil should be – Granuloma gluteale infantum: Believed to be r A complete physical exam may reveal other features
encouraged. caused by chronic application of topical steroids to of the underlying diagnosis:
r The use of superabsorbent diapers may be
the diaper area, this self-limiting inflammatory – The presence of scalp seborrhea (cradle cap)
suggested along with frequent diaper changes. It is dermatitis is rarely seen today. suggests seborrheic dermatitis.
unclear whether there is any difference in the r Irritant: – The presence of thrush (oral candidiasis) should
prevalence of diaper dermatitis when disposable – Jacquet erosive dermatitis: A severe erosive form raise the possibility of a candidal infection.
versus cloth diapers are used. of diaper dermatitis that results from chronic and
r Use of infant wipes may aid in the removal of urine DIAGNOSTIC TESTS & INTERPRETATION
severe inflammation and can be confused with Lab
and feces from the skin and they are generally less herpes simplex infection r Rarely helpful
irritating than use of water and washcloths,
although irritant and allergic contact dermatitis has r Candidal infections may be verified by a potassium
been reported with several of the chemicals used in DIAGNOSIS hydroxide preparation of a skin scraping or by a
these products. fungal culture.
r The regular use of barrier creams containing zinc HISTORY r Group A β-hemolytic Streptococcus and S. aureus
r A history of acute or chronic diarrhea should
oxide helps to protect the skin from external infection can be confirmed by a bacterial culture
irritants, including urine and feces. suggest a primary irritant dermatitis. obtained by swabbing the affected area.
r Antecedent use of oral antibiotics can change the
Pathological Findings
normal bowel and skin flora and may cause r Skin biopsy is rarely required.
diarrhea, which can irritate the skin and predispose r Can be helpful in diagnosing psoriasis, Langerhans
to infection with C. albicans.
r Prolonged use of topical corticosteroids may modify cell histiocytosis, or a nutritional deficiency. Skin
biopsy may be nondiagnostic in the case of allergic
the appearance of the rash, mask superficial
or irritant contact dermatitis and seborrheic
infections, or cause skin atrophy. It can also
dermatitis.
contribute to the development of granuloma
gluteale infantum.

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DIAPER RASH

DIFFERENTIAL DIAGNOSIS r If the skin is very inflamed or if there is evidence of ADDITIONAL READING
r Scabies: Pruritic, erythematous papules and nodules an allergic contact dermatitis or seborrheic
r Adam R. Skin care of the diaper area. Pediatr
may involve the diaper area; often there is a family dermatitis, use of a small amount of a low-potency
history of multiple affected family members and topical corticosteroid such as 1% hydrocortisone Dermatol. 2008;25:427–433.
more widespread involvement. cream for a few days can be helpful. r Akin F, Spraker M, Aly R, et al. Effects of breathable
r Psoriasis: May involve the diaper area either r Topical application of sucralfate suspension or 10% disposable diapers: Reduced prevalence of Candida
exclusively in infants or may occur in the setting of cholestyramine in petrolatum has been used in and common diaper dermatitis. Pediatr Dermatol.
more diffuse presentation, including other severe cases. These agents function as a physical 2001;18:282–290.
intertriginous areas and the face and scalp. A family barrier and may neutralize bile acids and pepsin. r Alberta L, Sweeney SM, Wiss K. Diaper dye
history of psoriasis or the presence of psoriasiform dermatitis. Pediatrics. 2005;116:e450–e452.
plaques elsewhere may suggest the diagnosis. ALERT r Heath CH, Desai N, Silverberg NB. Recent
r Herpes simplex virus: Can present with multiple r The prolonged use of topical corticosteroids in the
microbiological shifts in perianal bacterial
punched-out erosions in the diaper area, which can diaper area in contraindicated. The side effects of dermatitis: Staphylococcus aureus predominance.
be confirmed by specific viral studies such as PCR or topical steroids, including skin atrophy, are Pediatr Dermatol. 2009;26:696–700.
DFA. If confirmed, an evaluation for child abuse is potentiated when used under occlusion as occurs r Kazaks EL, Lane AT. Diaper dermatitis. Pediatr Clin D
mandatory. in the diaper area. North Am. 2000;47:909–919.
r Langerhans cell histiocytosis: Usually presents with r When topical steroids are required, they are best r Odio M, Friedlander SF. Diaper dermatitis and
multiple reddish-brown crusted papules and/or given as a separate prescription that can be advances in diaper technology. Curr Opin Pediatr.
vesicles and petechiae in conjunction with stopped at an earlier time (usually when the rash 2000;12:342–346.
hepatosplenomegaly. Oral lesions may also be starts to improve) as opposed to a prescription for r Scheinfeld N. Diaper dermatitis: A review and brief
present. a combination product should use of a topical survey of eruptions of the diaper area. Am J Clin
r Nutritional and metabolic disorders: Acrodermatitis Dermatol. 2005;6:273–281.
antibacterial or antifungal agent also be required.
enteropathica, which is caused by impaired zinc r Talcum powder can worsen skin irritation and may r Ward DB, Fleischer AB Jr, Feldman SR, et al.
metabolism (either inherited or acquired), leads to be aspirated by both baby and caretaker. Its use Characterization of diaper dermatitis in the United
an erosive acrodermatitis involving the face in a States. Arch Pediatr Adolesc Med. 2000;
should be discouraged.
perioral and periocular distribution, the diaper area, r If a candidal diaper infection is resistant to topical 154:943–946.
and the hands and feet. Multiple carboxylase
deficiency, essential fatty acid deficiency, and treatment and thrush (monilia infection of the
biotinidase deficiency can also present in a similar mouth) is present, oral nystatin or fluconazole CODES
manner. may be considered. An evaluation of the mother
r Kawasaki disease: The characteristic diaper rash for a candidal infection of the nipples should also ICD9
appears as a scaling, desquamative erythema. be considered since the mother may transmit the 691.0 Diaper rash
r Child abuse: An unusual history or morphology infection to her infant.
should suggest the possibility of abuse, especially if ICD10
the lesions appear geometric or resemble scalds or L22 Diaper dermatitis
burns. ONGOING CARE
FOLLOW-UP RECOMMENDATIONS FAQ
TREATMENT Patient Monitoring r Q: Should I switch from cloth to disposable diapers
With proper treatment, the rash should improve within (or vice versa)?
ADDITIONAL TREATMENT 4–7 days. Failure of resolution of rash indicates that r A: This is controversial, although there are some
General Measures another process may be complicating the diaper rash,
r Proper skin care is the primary treatment modality. studies that indicate that the superabsorbent
and further evaluation is warranted. disposable diapers may be better for preventing
r When soiled, the skin should be gently washed with
PROGNOSIS diaper rashes. Cloth diapers used with plastic
a mild cleanser and/or infant wipe and patted dry or r Diaper dermatitis usually resolves with the overpants probably irritate the skin more because
air dried. Vigorous rubbing of the skin or use of they trap moisture against the skin. Frequent
institution of appropriate skin care and the
washcloths may cause further irritation and skin changing of diapers is very helpful, along with not
treatment of any underlying cause.
breakdown. r Irritant diaper dermatitis completely resolves once wearing diapers at all when practical.
r Frequent diaper changes are helpful in minimizing r Q: Is the diaper rash due to not keeping the skin
the child is potty trained and out of diapers.
exposure to irritants. The diaper should be kept off clean enough?
and the skin exposed to air as much as possible. COMPLICATIONS r A: Although the combination of stool and urine may
r Routine use of a bland barrier ointment containing r Generally none, although secondary bacterial or
release enzymes that help break down skin integrity,
zinc oxide with each diaper change is recommended. fungal infections may lead to ulceration.
r Candidal infections should be treated with topical r The chronic use of topical corticosteroids in the probably more harmful to skin is vigorous and
frequent scrubbing with relatively abrasive materials
nystatin cream or a topical antifungal cream such as diaper area may lead to skin atrophy and striae. on the macerated, easily damaged skin typically
econazole, ketoconazole, or clotrimazole cream. found in the diaper area. This rough cleaning allows
There is some evidence to suggest that topical introduction of bacteria and yeast into the skin and
clotrimazole may be less efficacious than the use of results in a diaper rash. Parents should be advised to
other topical antifungal agents. use soft cleaning materials (such as cotton balls) to
gently clean stool from the diaper area. It is not
usually necessary to clean the skin of urine every
time; rather, patting the infant dry with a soft cloth
and then replacing the diaper is all that is generally
required.

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DIAPHRAGMATIC HERNIA (CONGENITAL)

Howard B. Panitch
Gordana Lovrekovic

– Unclear if hypoplasia is the result of lung PHYSICAL EXAM

BASICS compression by herniated abdominal viscera or a r Bochdalek hernia:
primary event that occurs before gastrointestinal – Severity of illness manifests within hours of birth.
DESCRIPTION contents enter the thorax – Neonatal presentation:
r Defect in the diaphragm allowing herniation of r Pulmonary hypertension: ◦ Polyhydramnios
abdominal contents into the thoracic cavity, causing – Smaller arterioles with excessive muscularization ◦ Scaphoid abdomen (abdominal contents in
varying degrees of pulmonary hypoplasia – Abnormal response to oxygen (failure to dilate) thoracic cavity)
r 4 types of congenital diaphragmatic hernia (CDH): – Can lead to persistence of the fetal circulation ◦ Respiratory distress
– Bochdalek hernia (posterolateral location) postnatally ◦ Decreased breath sounds on the affected side
– Morgagni hernia (lateral retrosternal location) ◦ Dullness to percussion on the affected side
– Pars sternalis (medial retrosternal) ETIOLOGY ◦ Bowel sounds heard in the chest
r True cause: Unknown
– Anterolateral ◦ Heart sounds shifted to the contralateral chest
r Diaphragm forms between 4 and 12 weeks
◦ Cardiac point of maximal impulse shifted away
EPIDEMIOLOGY gestation
r Bochdalek hernia: from affected side
r Diaphragm arises from 4 elements: ◦ Asymmetry of chest wall
– ∼90% of all CDHs – Septum transversum, which becomes the central ◦ Tachypnea, tachycardia, cyanosis
– 70–90% are left-sided tendon of the diaphragm – Late presentation (>1 month of age):
– May be more common in males – Pleuroperitoneal membranes, which extend from ◦ Cough
– 40% of cases associated with some type of other the lateral body wall and grow medially and ◦ Recurrent chest infections
congenital malformation: ventrally to fuse with the septum transversum and ◦ Feeding intolerance
◦ Heart defect in 10–35% esophageal mesentery ◦ Vomiting, abdominal pain, diarrhea
◦ Genitourinary system abnormalities in 23% – Mesentery of the esophagus, which becomes the ◦ Growth failure
◦ GI malformations (e.g., malrotation) in 14% crura of the diaphragm ◦ Intestinal malrotation
◦ CNS abnormalities (e.g., hydrocephalus, spina – Lateral body wall, from which myocytes migrate to ◦ Gastric volvulus
bifida, anencephaly) in 10% muscularize the diaphragm r Morgagni hernia: Exam may be normal.
◦ Recognizable syndromes (Beckwith- r Anything that interferes with formation of the
Wiedemann, Fryns, PAGOD, etc.) in 10% diaphragm can result in herniation of abdominal DIAGNOSTIC TESTS & INTERPRETATION
◦ Chromosomal abnormalities (trisomy 13, 18, or Lab
contents into the thorax. r Arterial blood gas:
21; Turner syndrome; tetrasomy 12p) in 33% r Bochdalek hernia develops when the
r Morgagni hernia: – Significance:
pleuroperitoneal membranes fail to fuse before
– Accounts for 2–5% of all diaphragmatic hernias ◦ pO2 low: Reflects significant hypoxemia
return of the midgut to the abdominal cavity. Failure
– More common in females in series where it is not ◦ pCO2 high: Reflects inadequate ventilation
of fusion of the pleuroperitoneal membranes with
discovered until adulthood ◦ pH, bicarbonate, lactate: Reflect significant
other components of the diaphragm results in a
Incidence communication between thoracic and abdominal respiratory and metabolic acidosis
r Karyotype:
1:2,500–4,000 live births, or 3.3–3.8/10,000 total cavities.
births r Morgagni hernia develops when a defect develops – Significance: 1/3 of neonates with CDH are
in the septum transversum. reported to have chromosomal abnormalities.
RISK FACTORS r Pars sternalis hernia usually also includes Imaging
Genetics r Chest radiograph:
r As isolated condition, usually sporadic pericardioperitoneal and sternal defects, as well as
r Estimated recurrence rate <2% in 1st-degree omphalocele; may also have cardiac defect – Bochdalek hernia:
◦ Loops of bowel in the thoracic cavity
relatives: Isolated series in consanguineous families ◦ Heart and mediastinal structures shifted away
suggest an autosomal recessive inheritance pattern, DIAGNOSIS from the affected side
whereas others have described autosomal dominant ◦ Decreased lung volumes (ipsilateral lung more
or X-linked patterns. HISTORY than contralateral lung)
r When associated with syndromes, inheritance r Prenatal imaging:
◦ Atelectasis of the contralateral lung
pattern is that of the syndrome. – CDH is frequently detected by fetal ◦ Unable to visualize diaphragm on the ipsilateral
r When CDH detected prenatally, amniocentesis for ultrasonography during a routinely scheduled side
fetal karyotype contributes important prognostic exam or by ultrafast fetal MRI. ◦ In left-sided hernias, a nasogastric tube inserted
information for nondirectional prenatal counseling – Herniation of the liver into the chest is the single into the stomach will be seen in the thoracic
most reliable predictor of severity, including need cavity.
PATHOPHYSIOLOGY for ECMO, and mortality. ◦ Bowel remaining in the abdomen usually gasless
r Bochdalek hernia more commonly (70–90%)
– Some data suggest a sonographically determined – Morgagni hernia:
left-sided: Left pleuroperitoneal folds close later lung area–to–head circumference ratio (LHR) ◦ A mass can be seen in the anterior
than right sided <1.4 mm in infants with a left-sided CDH is
r Morgagni hernia more commonly right sided: mediastinum: May be solid or gas-filled
associated with higher postnatal mortality and ◦ Lesion better seen on lateral view
Left-sided defects covered by the heart overall poorer outcome. r Echocardiogram: Reduced left ventricular mass in
r Mortality and morbidity of CDH, in absence of r Bochdalek hernia: Usually presents at birth; patient
left-sided hernias; can estimate the degree of
nonpulmonary defects, relate to the degree of typically presents with severe cardiorespiratory pulmonary hypertension and exclude congenital
pulmonary hypoplasia and pulmonary hypertension. distress. Rarely can present late (>1 month of age) heart defects
r Pulmonary hypoplasia: r Morgagni hernia: r Ventilation/perfusion scan: Reduced ventilation and
– Degree of hypoplasia variable, from mild to – Usually asymptomatic in the newborn period perfusion, especially to the ipsilateral lung.
incompatible with life – If symptomatic, most commonly presents with Ventilation increases to a greater degree than does
– Worse on ipsilateral side, but also present on recurrent chest infections, but rarely can present perfusion to the ipsilateral lung over time.
contralateral side with neonatal respiratory distress r Fetal ultrasound: Abdominal viscera in the thoracic
– Associated with smaller lungs, fewer airway – Older child or adult presentation usually includes cavity; polyhydramnios. Can be used to estimate
branches, fewer alveoli per terminal lung unit, and vague abdominal discomfort, vomiting, growth severity of lesion (liver in chest, low LHR portend
decreased surfactant production failure, chest pain, dyspnea, cough, and recurrent more severe disease). Also important to rule out
– Less severe in Morgagni hernias than in respiratory infections. other lesions (congenital heart defect, CNS
Bochdalek hernias
abnormality)
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DIAPHRAGMATIC HERNIA (CONGENITAL)

r Ultrafast fetal MRI: Useful when the diagnosis is – Large defects require placement of a prosthetic patch – Pulmonary hypertension
suspected but cannot be confirmed by fetal ultrasound r Therapies of possible but not proven benefit: – Growth failure
– ECMO (extracorporeal membrane oxygenation) – Gastroesophageal reflux, oral aversion, feeding
DIFFERENTIAL DIAGNOSIS
r Pulmonary: – Inhaled nitric oxide difficulties
– Sildenafil and other pulmonary vasodilators – Developmental delay and behavioral disorders
– Congenital cystic adenomatoid malformation
– High-frequency oscillatory ventilation – Sensorineural hearing loss
– Pulmonary cyst
– Liquid ventilation – Recurrence of the diaphragmatic hernia
– Pneumatocele r Fetal surgery (either tracheal occlusion or primary – Chest wall deformities (e.g., pectus excavatum,
– Congenital lobar emphysema
repair of the diaphragmatic hernia) has not been pectus carinatum, asymmetry) and scoliosis
– Pulmonary sequestration
– Diaphragmatic eventration shown to improve outcomes
r Morgagni hernia: Surgical repair indicated, even if ADDITIONAL READING
– Hiatal hernia
– Atelectasis the patient is asymptomatic, because of the high r Colvin J, Bower C, Dickinson JE, et al. Outcomes of
– Pulmonary agenesis rate of strangulation of the intrathoracic bowel (10%)
– Pneumothorax congenital diaphragmatic hernia: A population-
– Anterior mediastinal mass ONGOING CARE based study in Western Australia. Pediatrics. D
– Pneumonia 2005;116:e356–e363.
r Doyle NM, Lally KP. The CDH Study Group and
– Pleural effusion FOLLOW-UP RECOMMENDATIONS
r Cardiac: Patient Monitoring advances in the clinical care of the patient with
– Dextrocardia r Development of pulmonary hypertension in the congenital diaphragmatic hernia. Semin Perinatol.
– Congenital heart disease postoperative period 2004;28:174–184.
r Sudden development of hypoxemia in association r Hedrick HL. Management of prenatally diagnosed
with pneumothorax congenital diaphragmatic hernia. Semin Fetal
TREATMENT r Bronchospasm Neonat Med. 2010;15:21–27.
r Kamata S, Usui N, Kamiyama M, et al. Long-term
r Worsening course resulting from gastroesophageal
ADDITIONAL TREATMENT follow-up of patients with high-risk congenital
reflux and recurrent aspiration
General Measures diaphragmatic hernia. J Pediatr Surg. 2005;40:
Bochdalek hernia: ALERT 1833–1838.
r Endotracheal intubation; minimal bag mask r Bochdalek hernias: r Keijzer R, Puri P. Congenital diaphragmatic hernia.
ventilation to avoid distension of bowel and further – Inability to stabilize the patient (suggestive of Semin Pediatr Surg. 2010;19:180–185.
pulmonary compromise r Muratore CS, Kharasch V, Lund DP, et al. Pulmonary
severe pulmonary hypoplasia and/or pulmonary
r Decompression of the intrathoracic bowel morbidity in 100 survivors of congenital
hypertension)
(placement of a nasogastric tube to low suction – Iatrogenic injury to hypoplastic lungs; diaphragmatic hernia monitored in a multidisci-
allows the bowel to decompress, thus letting the aggressive ventilation causing barotrauma plinary clinic. J Pediatr Surg. 2001;36:133–140.
ipsilateral hypoplastic lung expand) r Muratore CS, Utter S, Jaksic T, et al. Nutritional
– Delay in transferring patient to an appropriate
r Oxygenation: Preductal saturation >85% morbidity in survivors of congenital diaphragmatic
medical center
r Ventilation: Permissive hypercapnia with hernia. J Pediatr Surg. 2001;36:1171–1176.
– Lack of recognition of other congenital r Trachsel D, Selvadurai H, Bohn D, et al. Long-term
spontaneous assisted breaths, pressure control malformations or chromosomal abnormalities
ventilation with peak pressures ≤25 cm H2 O and pulmonary morbidity in survivors of congenital
that may affect the patient’s ultimate outcome
low mandatory rates; avoidance of paralysis diaphragmatic hernia. Pediatr Pulmonol. 2005;39:
r Correction of acidosis; pH >7.30 or represent a contraindication to surgical repair
r Morgagni hernias: Not considering the diagnosis 433–439.
r Normalization of BP r van den Hout L, Sluiter I, Gischler S, et al. Can we
when abnormalities are seen on chest radiograph improve outcome of congenital diaphragmatic
ISSUES FOR REFERRAL PROGNOSIS hernia? Pediatr Surg Int. 2009;25:733–743.
r Pulmonary: r Bochdalek hernia:
– Chronic lung disease:
◦ ∼25% have obstructive lung disease at age
– Dependent on the degree of pulmonary CODES
hypoplasia and pulmonary hypertension
5 years. – If the patient survives the perioperative period,
◦ ∼50% have airway hyperreactivity. ICD9
55–65% survival (as high as 90% in the most 756.6 Congenital diaphragmatic hernia
– Diminished perfusion in the ipsilateral lung with advanced centers)
progressive increase in ventilation, as detected by – Poor prognostic factors: ICD10
ventilation/perfusion scans ◦ Polyhydramnios r Q79.0 Congenital diaphragmatic hernia
– Lung function can be normal or show a mild ◦ Liver herniation into the chest r Q79.1 Other congenital malformations of diaphragm
restrictive or obstructive pattern. ◦ LHR <1.4 mm (<1.0 mm in some studies)
– Recurrent respiratory infections
r GI/nutrition:
◦ Early postnatal presentation (i.e., presenting in FAQ
the 1st 6 hours vs. after 24 hours) r Q: What is the long-term pulmonary function in
– Gastroesophageal reflux (45–90%): May need ◦ Coexistence of cardiac, CNS, or chromosomal
surgical repair abnormalities survivors of Bochdalek hernias?
– Oral aversion r A: Most studies report evidence of a mild obstructive
◦ Persistently elevated pCO2 or decreased pO2
– Failure to thrive (>40% at 2 years of age) r Morgagni hernia: Excellent process in adolescents or young adults with a
r Neurodevelopmental: history of CDH, with up to 50% also demonstrating
– Greater risk in those with large defects or those COMPLICATIONS significant bronchodilator responsiveness. Less
r Perinatal: commonly, reports of a mild restrictive defect or
requiring ECMO
– Hypotonia – Pulmonary hypoplasia normal lung function have been reported. Follow-up
– Motor delays (tend to improve with time) – Pulmonary hypertension ventilation-perfusion studies demonstrate reduced
– Sensorineural hearing loss – Persistence of the fetal circulation perfusion to the ipsilateral lung.
r Chest wall: Pectus deformity and scoliosis – Chylothorax r Q: What is the optimal time for surgical repair in
r Recurrence of hernia (in up to 50%): Risk greater in – Chronic respiratory failure neonates with Bochdalek hernias?
– Gastroesophageal reflux r A: Delayed surgical repair until the patient is
those who required patch closure
– Death stabilized, avoidance of hyperventilation to achieve
SURGERY/OTHER PROCEDURES r Long term:
r Surgical repair of the defect: alkalinization, and use of pressure-controlled
– Chronic lung disease ventilation have been shown to decrease mortality
– Decreased morbidity and mortality if the patient is – Bronchospasm significantly in neonates who meet ECMO criteria
stabilized prior to surgical repair – Pneumonia (up to 90%).

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DIARRHEA
Daniel H. Leung
Sabina Mir

r Irritable bowel syndrome r Significance: Questions regarding fever, GI bleeding,

BASICS r Lactose intolerance rashes, or vomiting are vital. Certain GI infections
– Primary, secondary, and congenital and inflammatory bowel disease have specific
DEFINITION r Pancreatic exocrine dysfunction associated systemic symptoms.
r Diarrhea is an increase in frequency, volume, or r Question: Hematochezia?
– Shwachman–Diamond syndrome, cationic
fluidity of a patient’s stool as compared to the trypsinogen deficiency, Jeune syndrome, Pearson r Significance: The occurrence of acute, bloody stools
normal bowel movement pattern. syndrome, and Johanson–Blizzard syndrome and fever generally indicates a bacterial infection.
r Diarrhea can be classically categorized as acute or r Postinfectious enteropathy However, these same symptoms coupled with
persistent. r Secretory tumors fatigue, poor urine output, and history of easy
r Acute diarrhea typically presents abruptly with bruising may suggest hemolytic uremic syndrome.
– VIPoma, somatostatinoma, gastrinoma
increased fluid content of the stool >10 mL/kg/d Bloody stools in combination with a history of
and lasts <14 days. APPROACH TO THE PATIENT crampy abdominal pain, arthritis, and purpuric rash
r Persistent diarrhea can also begin acutely and last It is important to determine the type of diarrhea can indicate HSP, a completely different entity. The
for ≥14 days. Tenesmus, perianal discomfort, and (osmotic vs. secretory) as this will alter your diagnostic quantification and description of the bloody stool
incontinence may occur. and therapeutic plan. may also be helpful (e.g., currant jelly-like stools of
r Diarrhea is caused whenever there is disruption of r Phase 1: Secretory diarrhea: Absorption of intussusception vs. bright red blood from milk
the normal absorptive and secretory functions of intestinal fluid and electrolytes is accomplished protein allergy). Chronic bloody diarrhea, abdominal
intestinal mucosa resulting in water and electrolyte through multiple cellular pumps transporting pain, and weight loss are characteristic of
imbalance. Malabsorption, maldigestion, cellular sodium, glucose, and amino acids. Factors that inflammatory bowel disease.
electrolyte pump dysfunction, and intestinal interrupt these pumps (e.g., cholera toxin, r Question: Steatorrhea?
colonization or invasion by microorganisms can prostaglandin E, vasoactive intestinal peptide, r Significance: Indicates fat malabsorption (e.g., cystic
cause diarrhea. secretin, acetylcholine) can cause a severe active fibrosis)
isotonic secretory state manifested by profuse r Question: Age?
diarrhea, dehydration, and acidosis. r Significance: The age of the child is important
DIAGNOSIS r Phase 2: Osmotic diarrhea: In general, the solute
because a number of diseases present between birth
DIFFERENTIAL DIAGNOSIS composition of intestinal fluid is similar to that of and 3 months of life including cystic fibrosis, milk or
Acute diarrhea: plasma. Osmotic diarrhea occurs when poorly soy protein allergy, and congenital enteropathies.
r Dietary causes absorbed or nonabsorbable solute is present in the r Question: Previously well infant with recent viral
intestinal lumen. This can occur with the ingestion
– Sorbitol, fructose, lactose, and intolerance to illness and subsequent protracted diarrhea?
of nonabsorbable sugars (e.g., sorbitol), cathartics r Significance: Postviral enteritis should be suspected.
specific foods (beans, fruit, peppers, etc.) (e.g., magnesium citrate), carbohydrate
r Infectious causes This disorder is characterized by severe mucosal
malabsorption secondary to mucosal damage (e.g.,
– Bacterial (e.g., Escherichia coli, Clostridium lactose), maldigestion (e.g., pancreatic dysfunction), injury resulting in transient disaccharidase deficiency
difficile) and viral (e.g., rotavirus, Norwalk agent, rapid transit of intestinal fluid, or with a rare and potentially prolonged malabsorption.
adenovirus) r Question: Normal preschool-aged children who
congenital transport defect.
– Parasites (Giardia, Cryptosporidium, Entamoeba) have 2–10 watery stools per day without other
r Medications HISTORY symptoms and/or cause who have increased juice
r Question: Duration?
– Antibiotics, laxatives intake?
r Vitamin deficiency r Significance: A distinction should be made between r Significance: Chronic nonspecific diarrhea of
– Zinc, niacin acute and chronic diarrhea. The cause of acute childhood or “toddler’s diarrhea” should be
diarrhea is almost always related to an infection, a considered.
Chronic diarrhea:
r Allergic/autoimmune
medication, or the addition of a new food. r Question: Lactose intolerance?
r Question: Travel history? r Significance: Commonly occurs in many older
– Milk/soy protein allergy, eosinophilic enteritis, r Significance: Questions should be asked regarding
Henoch–Schönlein purpura (HSP), celiac disease, children and adults, with >95% occurrence rate in
travel to areas where drinking water is some ethnic groups.
or autoimmune enteropathy
r Immunodeficiency contaminated (e.g., Entamoeba in Mexico) or food r Question: Chronic diarrhea with weight loss?
handling/preparation is prolonged or unsanitary r Significance: Inflammatory or immunologic disorders
– HIV/AIDS, chronic granulomatous disease, hyper (e.g., Campylobacter, Bacillus cereus, or E. coli).
IgM, severe combined immunodeficiency such as ulcerative colitis, Crohn’s disease, and celiac
Exposure to freshwater streams or ponds (e.g.,
r Anatomic abnormalities disease must be ruled out. Celiac disease is an
Cryptosporidium, Giardia) may also be important to immune-mediated enteropathy caused by a
– Short intestinal tract (e.g., h/o necrotizing address.
enterocolitis or Hirschsprung s/p repair), r Question: Recent use of antibiotics? permanent sensitivity to gluten and related
malrotation prolamine in genetically susceptible individuals. It
r Significance: A variety of antibiotics cause C. difficile
r Bile salt malabsorption occurs in roughly 1:130 of the US population with a
colitis or antibiotic-related diarrhea. genetic predisposition and should be considered in
r Congenital r Question: Adolescents? any child with chronic diarrhea and poor weight
– Cystic fibrosis, microvillus inclusion disease, r Significance: Questions should be asked regarding gain.
tufting enteropathy, or IPEX syndrome
r Encopresis body image and weight. Laxative abuse causing an
PHYSICAL EXAM
osmotic diarrhea is common among adolescents r Finding: Child’s growth parameters?
r Endocrine disorders
who have an eating disorder or athletes attempting r Significance: Previous measurements and growth
– Hyperthyroidism, diabetes, congenital adrenal to lose weight rapidly.
hyperplasia r Question: Family history? curves are necessary to make an accurate
r Bacterial overgrowth (e.g., blind loop, r Significance: Conditions with genetic susceptibility evaluation. Findings of a chronically malnourished
ostomy) child with years of weight loss or poor growth
(e.g., inflammatory bowel disease, celiac disease)
r Inflammatory bowel disease r Question: Systemic symptoms? velocity would indicate a divergent differential
– Ulcerative colitis, Crohn’s disease diagnosis from that of a healthy-appearing child
r Intestinal lymphangiectasia with a history of normal growth.
– Primary and secondary

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DIARRHEA

r Finding: Arthritis and rash? r Test: Lactose breath test species infections in the very young febrile or
r Significance: Diarrhea accompanied by these signs r Significance: This noninvasive test measures bacteremic infant require antimicrobial therapy.
can occur in diseases such as inflammatory bowel hydrogen levels. It is based on the principle that
disease, celiac disease, HSP, and specific bacterial hydrogen gas is produced by colonic bacterial
infections. fermentation of malabsorbed carbohydrates. When ONGOING CARE
r Finding: Oral ulcers? abnormal in older healthy-appearing children, DIET
r Significance: Occur in inflammatory bowel disease primary lactase deficiency is likely. However, in r Breastfeeding should continue during episodes of
and celiac disease young children, a secondary lactase deficiency gastroenteritis, as it promotes mucosal healing and
r Finding: Hydration? should be considered and small-bowel disease recovery.
r Significance: Capillary refill >3 seconds, tachycardia should be ruled out. – It was traditionally believed that bowel rest was
r Test: D-xylose test
without pain or fever, and dry mucous membranes beneficial for formula-fed infants. Many studies
r Significance: This serum test is an indirect measure
provide clues to dehydration. have now shown that return feeding after
r Finding: Nail bed clubbing? of functional small bowel surface area. D-xylose 4–6 hours promotes a faster recovery.
absorption in the blood occurs independent of bile r Micronutrient supplementation
r Significance: This finding may direct questioning to
salts, pancreatic enzymes, and intestinal – Zinc supplementation during episodes of acute
D
rule out cystic fibrosis or chronic inflammatory bowel
disaccharidases. A specific dose of D-xylose (1 g/kg, diarrhea has been shown to decrease severity and
disease.
r Finding: Masses? maximum 25 g) is given orally after an 8-hour fast, duration as well as preventing future episodes in
r Significance: A right lower quadrant mass could and the serum level of D-xylose is determined after malnourished children.
1 hour. Levels <15–20 mg/dL in children is r Probiotics
suggest an abscess (e.g., terminal ileitis in Crohn’s abnormal and suggestive of disorders that alter or
disease or appendiceal abscess) or intussusception – Lactobacillus rhamnosus GG has been shown to
disrupt intestinal mucosa absorption. shorten the duration of diarrheal illness and viral
(e.g., irritable child with currant jelly-like stools). r Test: Fecal calprotectin
shedding (e.g., rotavirus).
DIAGNOSTIC TESTS & INTERPRETATION r Significance: Calprotectin is a neutrophilic protein
r Test: Stool culture detected in stools in inflammatory conditions.
r Significance: Stool examination for blood, mucus, r Test: Endoscopy and colonoscopy (optional) ADDITIONAL READING
inflammatory cells, and microorganisms is an r Significance: Direct visualization of the intestinal r Ali SA, Hill DR. Giardia intestinalis. Curr Opin Infect
important first step in determining the cause of the mucosa as well as intestinal culture, disaccharidase
diarrhea. Stool cultures for parasites (e.g., Giardia, Dis. 2003;16:453–460.
collection, and biopsies can provide clues to r Aomatsu T, et al. Fecal Calprotectin Is a Useful
Cryptosporidium, Entamoeba), bacterial pathogens diagnosis.
(e.g., Salmonella, Campylobacter, Shigella, Yersinia, r Test: Celiac panel Marker for Disease Activity in Pediatric Patients with
Aeromonas, Plesiomonas), viral particles, and r Significance: This includes a tissue transglutaminase, Inflammatory Bowel Disease. Dig Dis Sci.
C. difficile toxin should be appropriately obtained in 2011;56(8):2372–2377.
IgA level, and endomysial antibody. r Castelli F, Saleri N, Tomasoni LR, et al. Prevention
all children with unexplained diarrhea.
r Test: Stool pH and reducing substances and treatment of traveler’s diarrhea: Focus on
r Significance: These tests are useful in identifying TREATMENT antimicrobial agents. Digestion. 2006;
carbohydrate malabsorption. A stool pH <5–6 and 73(Suppl 1):109–118.
r Gore JI, Surawicz C. Severe acute diarrhea.
stool reducing substances >0.5–1% is suggestive. ADDITIONAL TREATMENT
r Test: Stool osmolality and electrolytes General Measures Gastroenterol Clin North Am. 2003;32:1249–1267.
r Significance: r The key elements in treatment of diarrhea are: (a) r Hartling L, Bellemare S, Wiebe N, et al. Oral versus
– Stool osmolality, stool Na, and stool K can be used correction of hydration, (b) correction of electrolytes, intravenous rehydration for treating dehydration due
to calculate an ion gap and differentiate between and (c) specific treatment of underlying cause when to gastroenteritis in children. Cochrane Database
secretory and osmotic diarrhea. indicated. Syst Rev. 2006;3:CD004390.
r Rehydration is the cornerstone of treatment. r Patel K, Thillainayagam AV. Diarrhea. Medicine.
– Stool osmotic gap = measured stool osmolality –
estimated stool osmolality r Oral rehydration therapy with glucose 2009;37(1):23–27.
◦ Estimated stool osmolality = 2 (Na stool + r Surawicz CM. Mechanisms of diarrhea. Curr
concentrations of 111 mmol/L and 90 mmol/L
K stool) sodium is recommended. Gastroenterol Rep. 2010;12(4):236–241.
◦ An increased stool osmotic gap is r IV rehydration is indicated for patients who are r Thielman NM, Guerrant RL. Clinical practice: Acute
>50 mOsm/kg. severely dehydrated and unable to tolerate oral infectious diarrhea. N Engl J Med. 2004;350:38–47.
r Test: Hemoccult feedings.
r Significance: Sensitive and specific test is helpful in
ISSUES FOR REFERRAL CODES
distinguishing truly heme + stools from ingested Children who present with growth failure,
foods/drinks with artificial or natural red coloring. noninfectious heme-positive diarrhea, or unexplained
Stool positive for blood is suggestive of infectious chronic diarrhea should be considered for referral to a ICD9
(C diff) and organic etiologies (Inflammatory bowel r 008.8 Intestinal infection due to other organism, not
pediatric gastroenterologist.
disease) elsewhere classified
r Test: 72-hour quantitative fecal fat evaluation IN-PATIENT CONSIDERATIONS r 008.61 Enteritis due to rotavirus
r Significance: This is a sensitive test for steatorrhea. Initial Stabilization r 787.91 Diarrhea
Patients need to be placed on a high-fat diet Diarrhea can lead to significant dehydration and
(2–4 g/kg) for a minimum of 1 day prior to testing. electrolyte imbalance. Any child suspected of clinical ICD10
dehydration should be closely observed. Only if oral r A08.0 Rotaviral enteritis
Over 3 days, all stool is collected, refrigerated, and
tested. A diet record needs to be performed for the rehydration is ineffective is IV therapy indicated. r K52.9 Noninfective gastroenteritis and colitis,
3 days that correspond to the stool collection Culture-negative GI bleeding associated with severe unspecified
period. The coefficient of fat absorption is abdominal pain and diarrhea should always be treated r R19.7 Diarrhea, unspecified
calculated: Grams of fat ingested – grams of fat urgently.
excreted/grams of fat ingested × 100. Normal r Antibiotics
values are as follows: Premature infants: 60–75%; – Vibrio cholerae, Shigella, and Giardia lamblia
newborns: 80–85%; children 10 months to 3 years: require antimicrobial therapy (i.e.,
85–95%; children >3 years: 93%. When fat trimethoprim/sulfasoxazole, azithromycin,
malabsorption is present, disorders of pancreatic tetracycline, ciprofloxacin, metronidazole).
function (e.g., cystic fibrosis, Shwachman syndrome) – Prolonged courses of enteropathogenic E. coli,
or severe intestinal disease should be suspected. Yersinia in sickle cell patients, and Salmonella

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DIPHTHERIA
Michael J. Smith

PATHOPHYSIOLOGY PHYSICAL EXAM

BASICS r The initial entry site for C. diphtheriae is via airborne r Classic findings:
respiratory droplets, typically the nose or mouth but – Nasal discharge
DESCRIPTION occasionally the ocular surface, genital mucous – Nasal or pharyngeal membrane
Acute infectious disease caused by Corynebacterium membranes, or pre-existing skin lesions. – Heart rate out of proportion to body temperature
diphtheriae; affects primarily the membranes of the r Following 2–4 days of incubation at one of these – Respiratory distress
upper respiratory tract with the formation of a sites, the bacterium elaborates toxin. – Stridor
gray-white pseudomembrane r Locally, the toxin induces formation of a necrotic – Cough
EPIDEMIOLOGY coagulation of the mucous membranes – Hoarseness
r The single known reservoir for C. diphtheriae is (pseudomembrane) with underlying tissue edema; – Palatal paralysis
humans; disease is acquired by contact with either a respiratory compromise may ensue. – Neck swelling
carrier or a diseased person. r Elaborated exotoxin may also have profound effects – Cervical lymphadenitis
r Most cases occur during the cooler autumn and on the heart, nerves, and kidneys in the form of – Attempt to remove any membrane present results
myocarditis, demyelination, and tubular necrosis, in bleeding.
winter months in individuals <15 years who are r Conjunctival diphtheria: Palpebral conjunctival
unimmunized. respectively.
r Recent outbreaks have occurred, most notably in the involvement with a red, edematous, membranous
ETIOLOGY appearance
new independent states of the former Soviet Union, C. diphtheriae, a Gram-positive pleomorphic bacillus r Aural diphtheria: Otitis externa with a purulent,
and supply additional evidence that disease occurs
among the socioeconomically disadvantaged living malodorous discharge
r Cutaneous diphtheria: See “Diagnosis.”
in crowded conditions. DIAGNOSIS
Incidence r Respiratory tract diphtheria: DIAGNOSTIC TESTS & INTERPRETATION
Though the disease is distributed throughout the Diagnosis should be on clinical grounds: Delay in
– Nasal diphtheria starts with mild rhinorrhea that treatment increases morbidity and mortality.
world, it is endemic primarily in developing regions of
gradually becomes serosanguineous, then
Africa, Asia, and South America. In the Western world, Lab
mucopurulent and often malodorous; occurs most r Culture of material from the membrane or beneath
the incidence of diphtheria has changed dramatically
often in infants.
in the past 50–75 years as a result of the widespread the membrane: If a strain of C. diphtheriae is
– Tonsillar and pharyngeal diphtheria begin with
use of diphtheria toxoid after World War II. The isolated, additional testing for presence or absence
anorexia, malaise, low-grade fever, and
incidence has declined steadily and is now a rare of toxin production should be done by a laboratory
pharyngitis. A membrane appears within
occurrence. prepared to conduct an animal neutralization test or,
1–2 days. Cervical lymphadenitis and edema of
GENERAL PREVENTION the cervical soft tissues may be severe. Disease alternatively, neutralization (with antitoxin) in tissue
Active immunization with diphtheria toxoid is the course varies with extent of toxin elaboration and culture.
r Examination of a methylene blue-stained lesion:
cornerstone of population-based diphtheria membrane production. Respiratory and
prevention. Current recommendations from the cardiovascular collapse may occur. Metachromatic granules may be helpful if performed
Advisory Committee on Immunization Practices (ACIP) – Laryngeal diphtheria most often represents by an experienced technician.
of the Centers for Disease Control and Prevention: extension of a pharyngeal infection and clinically r Fluorescent antibody testing and
r Ages 2 months to 7 years: 5 doses of diphtheria presents as typical croup. Acute airway obstruction counterimmunoelectrophoresis: Previously
vaccine (with tetanus toxoid and acellular may occur, and in severe cases, the membrane performed in state laboratories; no longer widely
pertussis): may invade the entire tracheobronchial tree. available
– First 3 given as DTaP vaccine 0.5 mL IM at – Cutaneous diphtheria occurs in warmer tropical DIFFERENTIAL DIAGNOSIS
2-month intervals beginning at 2 months of age regions. It is characterized by chronic nonhealing r Nasal diphtheria:
– 4th dose of DTaP should be given at ulcers with gray membrane and may serve as a – Common cold
15–18 months of age. reservoir in endemic and epidemic areas of – Nasal foreign body
– 5th dose of DTaP or DTP at 4–6 years of age respiratory diphtheria. – Sinusitis
r In 2005, 2 tetanus toxoids, reduced diphtheria r Other sites: Rarely vulvovaginal, conjunctival, or
– Adenoiditis
toxoid, and acellular pertussis (TdaP) vaccines were aural forms occur. – Snuffles (congenital syphilis)
licensed for use in adolescents 11–18 years of age. HISTORY
r 1 booster dose of TdaP should be given to all r Exposure to an individual with diphtheria is not
adolescents at the 11–12-year-old visit, provided necessarily elicited because contact with an
they have completed the childhood series. asymptomatic carrier may be the only source of
Subsequent tetanus and diphtheria (Td) boosters infection.
should be administered every 10 years. r Incubation period:
r TdaP should replace the 1st dose of Td in children
– Incubation period is 1–6 days.
7–10 years of age who are undergoing primary – Respiratory diphtheria, depending on the site of
immunization infection, may begin with nasal discharge alone or
r Isolation of patients with diphtheria is required until with pharyngitis accompanied by mild systemic
culture from the site of infection is negative on 3 symptoms.
consecutive specimens. – Progression of symptoms thereafter occurs as
outlined above (see “Diagnosis”).
r Previous diphtheria immunization history, diphtheria
exposure

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DIPHTHERIA

r Tonsillar or pharyngeal diphtheria: r Centers for Disease Control and Prevention.

– Streptococcal pharyngitis ONGOING CARE Updated recommendations for use of tetanus
– Infectious mononucleosis toxoid, reduced diphtheria toxoid and acellular
– Primary herpetic tonsillitis FOLLOW-UP RECOMMENDATIONS pertussis (Tdap) vaccine from the Advisory
r Mild cases: After membrane sloughs off in
– Thrush Committee on Immunization Practices, 2010.
– Vincent angina 7–10 days, recovery is usually uneventful. MMWR. 2011;60(1):13–15.
– Post-tonsillectomy faucial membranes r More severe cases: Recovery may be slower; serious r Enhanced surveillance of non-toxigenic
– Oropharyngeal involvement caused by complications may occur. Corynebacterium diphtheriae infections. Commun
toxoplasmosis, cytomegalovirus, tularemia, and Dis Rep CDR Wkly. 1996;6:29–32.
PROGNOSIS r Galazka A. The changing epidemiology of diphtheria
salmonellosis r Most strongly dependent on the immunization
r Laryngeal diphtheria: in the vaccine era. J Infect Dis. 2000;181(Suppl 1):
status of the host. Those without prior adequate
– Croup immunization have significantly higher morbidity 52–59.
– Acute epiglottitis and mortality.
– Aspirated foreign body r Delay in onset of treatment also increases mortality.
– Peripharyngeal and retropharyngeal abscess
When appropriate treatment has been administered CODES D
– Laryngeal papillomas
on day 1 of illness, mortality may be as low as 1%.
– Other masses ICD9
When treatment has been delayed until day 4, the
r 032.1 Nasopharyngeal diphtheria
mortality rate is ≤20-fold higher.
r Organism virulence: Toxigenic strains are associated r 032.85 Cutaneous diphtheria
TREATMENT r 032.9 Diphtheria, unspecified
with more severe disease and a poorer prognosis.
MEDICATION (DRUGS) r Location of membrane: Laryngeal diphtheria has a
Antibiotic therapy: Use in addition to, not in place of,
ICD10
higher mortality due to airway obstruction. r A36.1 Nasopharyngeal diphtheria
diphtheria antitoxin (DAT) r A megakaryocytic thrombocytopenia and WBC r A36.3 Cutaneous diphtheria
r Respiratory diphtheria: count <25,000 are associated with poor outcome. r A36.9 Diphtheria, unspecified
– Penicillin G
– Aqueous crystalline 100,000–150,000 U/kg/d in 4 COMPLICATIONS
r Cardiac toxicity: Myocarditis may develop secondary
divided doses for 14 days
– Procaine 25,000–50,000 U/kg/d in 2 divided to elaborated toxin anytime between the 1st and FAQ
doses for 14 days or 6th week of illness. Though cardiac failure may r Q: What is the incidence of diphtheria in the US?
occur, most cases are transient.
– Erythromycin 40–50 mg/kg (maximum 2 g/d) PO r Neurologic toxicity occurs secondary to toxin r A: No locally acquired case of respiratory diphtheria
or parenterally for 14 days has been reported in the US since 2003.
r Cutaneous diphtheria: Requires local care of the elaboration and mainly reflects bilateral motor
r Q: Are there currently places in the world where
lesion with soap and water and administration of involvement.
r Paralysis of the soft palate is most common, but diphtheria is a problem?
antimicrobials for 10 days r A: Yes, an epidemic began in 1990 in Russia, spread
ocular paralysis, diaphragm paralysis, peripheral
IN-PATIENT CONSIDERATIONS neuropathy of the extremities, and loss of deep in 1991 to Ukraine, and during 1993 and 1994,
Initial Stabilization tendon reflexes also occur. spread to the remaining new independent states of
r DAT antiserum, produced in horses, must be r The frequency of all complications, including those the former Soviet Union. Other endemic regions
administered as soon as possible. DAT is available listed above, increases with increasing time between include the Middle East and Asia, and some
from the CDC. (Note: For patients with known horse symptom onset and antitoxin administration and countries in Africa and Central and South America.
serum sensitivity, a test dose should be administered also with extent of membrane formation. Travelers to these regions should check the CDC
first, and if positive, the patient should be website for the latest information.
desensitized.) r Q: What precautions should be taken by travelers to
r Pharyngeal or laryngeal disease of <48 hours ADDITIONAL READING areas of the world with diphtheria outbreaks?
duration: 20,000–40,000 units IV r A: The ACIP recommends that travelers to such
r American Academy of Pediatrics. Diphtheria. In:
r Nasopharyngeal lesions: 40,000–60,000 units IV areas be up-to-date with diphtheria immunization.
r Extensive disease of ≥3 days duration or diffuse Pickering LK, Baker CJ, Long SS, et al., eds. 2009 Infants traveling to areas where diphtheria is
Red book: Report of the Committee on Infectious endemic or epidemic should ideally receive 3 doses
neck swelling: 80,000–120,000 units IV Diseases, 28th ed. Elk Grove Village, IL: American of DTaP before travel.
Academy of Pediatrics, 2009:280–283.
r Broder KR, Cortese MM, Iskander JK, et al.
Preventing tetanus, diphtheria, and pertussis among
adolescents: Use of tetanus toxoid, reduced
diphtheria toxoid and acellular pertussis vaccines
recommendations of the Advisory Committee on
Immunization Practices (ACIP). MMWR Recomm
Rep. 2006;55(RR-3):1–34.

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DISKITIS
Timothy Beukelman
Randy Q. Cron

Imaging
BASICS DIAGNOSIS r Plain radiographic studies: Usually normal, though
may demonstrate disk narrowing as illness
DESCRIPTION HISTORY progresses
r Uncomfortable child r Bone scan: Demonstrates increased uptake at
Often benign, self-limited inflammatory process of an
intervertebral disk r Refusal to walk
affected area
r Fever r MRI: Useful in atypical situations to confirm location
EPIDEMIOLOGY r Back or abdominal pain
>50% of the cases occur in children <4 years. of pathology (demonstrates disk edema)
r Symptoms of short duration prior to presentation
Incidence DIFFERENTIAL DIAGNOSIS
Peak incidence is between 1 and 3 years of age. PHYSICAL EXAM r Infection:
r Usually, rigid posture and pain elicited on movement – Vertebral osteomyelitis (e.g., Staphylococcus,
Prevalence (sits in tripod position) Salmonella)
Rare r Focal tenderness to palpation – Potts disease (tuberculous spondylitis)
PATHOPHYSIOLOGY r Most common locations: L4–5 and L3–4 r Environmental trauma:
r Probably of infectious etiology by an indolent
– Fracture
organism DIAGNOSTIC TESTS & INTERPRETATION – Disk herniation
r Usually none identified; occasionally Staphylococcus Lab r Tumors: Osteoid osteoma
aureus, Moraxella, or the Enterobacteriaceae are Initial lab tests r Vascular: Avascular necrosis of vertebral body
r Purified protein derivative (PPD)
cultured. r Congenital: Spondylolisthesis
r WBC count
ETIOLOGY r Immunologic: Ankylosing spondylitis
r Erythrocyte sedimentation rate (ESR)
Idiopathic or initiated by low-grade infection r Miscellaneous: Scheuermann disease
r Blood cultures
(osteochondritis of the vertebral bodies)
ALERT
Difficulty separating early vertebral body
osteomyelitis from diskitis

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DISKITIS

PROGNOSIS r Kayser R, Mahlfeld K, Greulich M, et al.

r Usually excellent
TREATMENT r Scoliosis may occur.
Spondylodiscitis in childhood: Results of a long-term
study. Spine. 2005;30:318–323.
MEDICATION (DRUGS) r Rarely, facet joint symptoms occur years later. r Marin C, Sanchez-Alegre ML, Gallego C, et al.
r Usually quite responsive to NSAIDs Magnetic resonance imaging of osteoarticular
r Rarely, antibiotics are indicated. COMPLICATIONS infections in children. Curr Probl Diagn Radiol.
r Occasionally, scoliosis or kyphosis
r Rarely, facet joint degenerative disease 2004;33:43–59.
COMPLEMENTARY & ALTERNATIVE r McCarthy JJ, Dormans JP, Kozin SH, et al.
THERAPIES
r Physical therapy Musculoskeletal infections in children: Basic
ADDITIONAL READING treatment principles and recent advancements. Instr
– Patient should be immobilized during acute
Course Lect. 2005;54:515–528.
period. r Arthurs OJ, Gomez AC, Heinz P, et al. The toddler
– Casting may be required.
refusing to weight-bear: A revised imaging guide
IN-PATIENT CONSIDERATIONS from a case series. Emerg Med J. 2009;26:797–801. CODES D
Initial Stabilization r Early SD, Kay RM, Tolo VT. Childhood diskitis. J Am
Duration: Acad Orthop Surg. 2003;11:413–420. ICD9
r Follow CBC and ESR r Fernandez M, Carrol CL, Baker CJ. Discitis and r 722.90 Discitis
r Continue treatment until child is asymptomatic vertebral osteomyelitis in children: An 18-year r 722.91 Cervical, cervicothoracic
review. Pediatrics. 2000;105:1299–1304. r 722.92 Thoracic, thoracolumbar
r Garron E, Viehweger E, Launay F, et al.
ONGOING CARE Nontuberculous spondylodiscitis in children. ICD10
r M46.40 Discitis, unspecified, site unspecified
J Pediatr Orthop. 2002;22:321–328. r M46.42 Discitis, unspecified, cervical region
FOLLOW-UP RECOMMENDATIONS r Karabouta Z, Bisbinas I, Davidson A, et al. Discitis in
Patient Monitoring r M46.43 Discitis, unspecified, cervicothoracic region
r When to expect improvement: Most patients are toddlers: A case series and review. Acta Paeditr.
2005;94:1516–1518.
asymptomatic in 6–8 weeks. r Karadimas EJ, Bunger C, Lindblad BE, et al.
r Signs to watch for: FAQ
Spondylodiscitis: A retrospective study of 163
– Recurrence of symptoms due to reactivation of the patients. Acta Orthop. 2008;79:650–659. r Q: When are a biopsy and tissue culture indicated?
disease
r A: If there is bony destruction of adjacent vertebral
– Progressive loss of disk height
– Destruction of adjacent vertebral bodies bodies or if clinical course is prolonged.
r Q: When are antibiotics indicated?
r A: Obviously, in situations with positive cultures, or
if course is atypical or prolonged.

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DISORDERS OF SEX DEVELOPMENT

Thomas F. Kolon

r Categories of 46XX sex reversal include classic XX r 46XY DSD is a heterogeneous disorder in which
BASICS male individuals with apparently normal testes are present but the internal ducts and/or the
phenotypes, nonclassic XX males with some degree external genitalia are incompletely masculinized.
DESCRIPTION of sexual ambiguity, and XX true hermaphrodites. The phenotype ranges from completely female
Chromosomal sex is established at fertilization, which 80–90% of 46XX males result from an anomalous Y external genitalia to mild male ambiguity (such as
then directs the undifferentiated gonads to develop to X translocation involving the SRY gene during hypospadias or cryptorchidism). 46XY DSD can
into testes or ovaries. Phenotypic sex results from the meiosis. However, 8–20% of XX males have no result from 8 basic etiologic categories:
differentiation of internal ducts and external genitalia detectable Y sequences, including SRY. – Testicular unresponsiveness to hCG and LH
under the influence of hormones and transcription r XY gonadal dysgenesis (GD; XY sex reversal or (Leydig cell agenesis/hypoplasia due to hCG/LH
factors. If there is any discordance among these three Swyer syndrome) is a heterogeneous condition that receptor defect)
processes (i.e., chromosomal, gonadal, or phenotypic can result from deletions of the short arm of the Y – Enzyme defects in testosterone biosynthesis, some
sex determination), then ambiguous genitalia chromosome, SRY gene mutations, alterations in of which are common to CAH (StAR, HSD3B2,
develop. autosomal genes, or duplications of the DSS locus CYP17, 17β-HSD3)
RISK FACTORS on the X chromosome. – Defects in androgen-dependent target tissues
r A 45X karyotype may be due to nondisjunction or (androgen insensitivity syndrome)
Genetics – Defect in the enzymatic conversion of testosterone
r Inactivating or loss-of-function mutations in 5 genes chromosome loss during gametogenesis in either
parent resulting in a sperm or ovum without a sex (T) to dihydrotestosterone (DHT) (5α-reductase
involved in steroid biosynthesis can cause congenital deficiency)
adrenal hyperplasia (CAH): CYP21, CYP11B1, chromosome. 45X/46XX mosaicism may be present
in up to 75% of Turner syndrome patients. – Defects in the synthesis, secretion, or response to
CYP17, HSD3B2, and StAR. Each of these genetic r In true hermaphroditism (TH), the most common Müllerian-inhibiting substance (MIS or
defects is inherited in an autosomal recessive antimüllerian hormone), resulting in persistent
pattern. karyotype is 46XX followed by 46XX/46XY
r 46XY disorders of sex development (DSD) can result chimerism, mosaicism, and 46XY. Most 46XX müllerian duct syndrome
ovotesticular DSDs are SRY negative, and the genes – Aberrations in testicular gonadogenesis (testicular
from Leydig cell unresponsiveness to human dysgenesis)
chorionic gonadotropin luteinizing hormone responsible have not yet been identified. A mutated
downstream gene in the sex determination cascade – Primary testicular failure (vanishing testes)
(hCG-LH) because the production of testosterone by – Exogenous insults (maternal ingestion of
the Leydig cells is critical to male differentiation of likely allows for testicular determination.
progesterone/estrogen or environmental hazards)
the wolffian ducts and the external genitalia. PATHOPHYSIOLOGY r GD disorders comprise a spectrum of anomalies
Familial studies are consistent with autosomal r A testis that is poorly formed is called a dysgenetic
ranging from complete absence of gonadal
recessive transmission. Multiple cases have been testis, and an ovary that is poorly formed is called a development to delayed gonadal failure. Complete
described, and conversion and nonsense mutations streak gonad. or pure GD includes failed gonadal development in
have been identified in homozygous and compound r A dysgenetic testis usually has discontinuity of the
genetic males and females due to abnormalities of
heterozygous individuals. tunica albuginea with hilar disorganization, sex or autosomal chromosomes. Partial GD refers to
r The androgen receptor (AR) gene is located on the
hypoplastic or disordered tubules, and fibrotic disorders with partial testicular formation at some
long arm of chromosome X. The majority of AR gene stroma. point in development including MGD, dysgenetic
mutations affect the steroid-binding domain and r Streak gonads contain ovarianlike stroma with testes, and some forms of testicular or ovarian
result in receptors unable to bind androgens or that occasional primordial follicles. regression.
bind androgens but exhibit qualitative abnormalities. – A patient with a Y chromosome is at high risk to r Ovotesticular DSD requires the presence of both
r The SRD5A2 gene, which accounts for most fetal
develop a tumor in a streak or dysgenetic gonad. ovarian and testicular tissue in the individual and
5α-reductase activity, is on chromosome 2. – Gonadoblastoma is the most common tumor. can result from sex chromosome mosaicism,
5α-Reductase 2 deficiency is heterogeneous, and Although it is a benign growth, it can give rise to chimerism, or Y-chromosomal translocation. This
>40 mutations have been reported. Consanguinity a malignant tumor called a dysgerminoma. The uncommon condition may be classified into three
has also been described in up to 40% of patients’ risk of tumor formation can be up to 35% and is groups: Lateral (testis and ovary, usually left),
families. Three genetic isolates of this disorder have age related (older more at risk). bilateral (ovotestis and ovotestis), and unilateral
been described in the Dominican Republic, the New r An ovotestis has evidence of both seminiferous (most common; ovotestis and testis or ovary). The
Guinea Samba Tribe, and Turkey. tubules and ovarian stroma and follicles. genital development is ambiguous with
r Persistent Müllerian duct syndrome (PMDS) is
hypospadias, cryptorchidism, and incomplete fusion
inherited in a sex-limited autosomal recessive ETIOLOGY
r Currently, 4 main categories of DSDs are described: of labioscrotal folds. Genital duct differentiation
manner caused by a mutation in the antimüllerian generally follows that of the ipsilateral gonad.
hormone (AMH) or AMH-receptor genes. These 46XX DSD; 46XY DSD; gonadal dysgenesis—pure
mutations are most common in Mediterranean or GD (PGD) or mixed GD (MGD); and ovotesticular
Middle Eastern countries with high rates of DSD. DIAGNOSIS
r 46XX DSD is the most common DSD disorder. The
consanguinity.
r Mutations or deletions of any of the genes involved ovaries and Müllerian derivatives are normal, and HISTORY
in the testis determination cascade (SRY, DSS, DAX1, the sexual ambiguity is limited to masculinization of Prematurity, exogenous maternal hormones (used in
XH2, SOX9, SF1, WT1) have been identified in the external genitalia. A female fetus is masculinized infertility treatments), use of oral contraceptives, CNS
dysgenetic 46XY DSD. only if exposed to androgens, and the degree of lesions, and family history for urologic abnormalities,
r 47XXY males may develop through nondisjunction masculinization is determined by the stage of neonatal deaths, precocious puberty, infertility, or
differentiation at the time of exposure. These consanguinity.
of the sex chromosomes during the 1st or 2nd
changes may also be secondary to exogenous PHYSICAL EXAM
meiotic divisions in either parent or, less commonly,
maternal steroids. Congenital adrenal hyperplasia r Any abnormal virilization or cushingoid appearance
through mitotic nondisjunction in the zygote at or
(CAH) accounts for the majority of 46XX DSD of the child’s mother should be noted.
after fertilization. These abnormalities almost always
patients (most commonly 21α-hydroxylase or r The patient should be examined supine in the
occur in parents with normal sex chromosomes.
11β-hydroxylase deficiencies).
frog-leg position with both legs free.
– Note any dysmorphic features including a short,
broad neck or widely spaced nipples. Abnormal
phallic size should be documented by width and
stretched length measurements.

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DISORDERS OF SEX DEVELOPMENT

– Describe the position of the urethral meatus and r If 2 gonads are palpable, 46 XY DSD and (rarely)
amount of chordee (ventral curvature): ovotesticular DSD are the most likely diagnoses: ONGOING CARE
◦ Note the number of orifices: 3 in normal girls – In 46XY boys, hypospadias and cryptorchidism
(urethra, vagina, and anus) or 2 in boys without an underlying intersex etiology would be PROGNOSIS
r The overall prognosis for somatic, sexual, and
(urethra, anus). A rectal exam should always be a diagnosis of exclusion after a full evaluation.
performed for palpation of a uterus. psychosocial growth and development is good with
r With warmed hands, begin the inguinal exam at the careful management of most of these children. Any
anterior superior iliac spine. Sweep the groin from TREATMENT thoughts of gender reassignment should only be
lateral to medial with the nondominant hand: entertained after thoughtful discussion with the
– When a gonad is palpated, grasp it with the Much current research is aimed at understanding the child’s parents and all medical staff involved.
influence of androgens on the fetal/newborn brain and r Except for girls with CAH, many of these patients
dominant hand, and continue to sweep toward
the scrotum with the other hand to attempt to its relationship to gender identity. Diagnosis and are infertile.
bring the gonad to the scrotum. management of these children is individualized and r Long-term management of mineral and
◦ Check the size, location, and texture of both should always involve a “team effort” including the glucocorticoids is by the pediatric endocrinologist.
gonads if palpable. Wetting the fingers of the pediatric urologist, endocrinologist, geneticist, and The vaginal introitus in CAH should be re-examined D
nondominant hand with lubricating jelly or soap psychologist and the child’s parents immediately after after puberty to assess adequacy of width and depth.
can increase the sensitivity of the fingers. birth. r Undescended testes, especially dysgenetic testes,
– The undescended testis may be found in the ADDITIONAL TREATMENT have an increased risk of tumor formation even after
inguinal canal, in the superficial inguinal pouch, at General Measures orchidopexy (seminoma-UDT, gonadoblastoma/
the upper scrotum, or (rarely) in the femoral, r Treatment of the newborn with CAH involves dysgerminoma-dysgenetic testis). These boys need
perineal, or contralateral scrotal regions. For correction of dehydration and salt loss by electrolyte to learn testis monthly self-exam after puberty.
differential diagnosis and treatment purposes, the r Hypospadias repairs are followed at least through
and fluid therapy with mineralocorticoid
distinction needs to be made whether or not the replacement. Glucocorticoid replacement is potty training to ensure good voiding habits and
testis is palpable. Unless associated with a patent generally added upon confirmation of the diagnosis. absence of meatal stenosis or urethrocutaneous
processus vaginalis, ovaries and streak gonads do r Estrogen replacement is begun after puberty in girls fistulae.
not descend, although testes, and rarely
with complete AIS.
ovotestes, may be palpable. r Testosterone replacement may be needed in some
– Document development and pigmentation of the ADDITIONAL READING
labioscrotal folds. cases of XY DSD (partial AIS, testicular dysgenesis,
primary testicular, or Leydig cell failure) to aid in r Brown J, Warne GJ. Practical management of the
DIAGNOSTIC TESTS & INTERPRETATION pubertal changes and for maintenance through intersex infant. Pediatr Endocrinol Metab.
Lab adulthood. 2005;18:3–23.
All patients require serum electrolytes, 17OH r Diamon DA, Burns JP, Mitchell C, et al. Sex
SURGERY/OTHER PROCEDURES
progesterone (17OHP), T, LH, follicle-stimulating r Until further data are available, the current assignment for newborns with ambiguous genitalia
hormone (FSH), karyotype. If 17OHP is elevated, 11 recommendation for a girl with CAH is to continue a and exposure to fetal testosterone: Attitudes and
deoxycortisol and deoxycortisol (DOC) will help female sex of rearing and perform a feminizing practices of pediatric urologists. J Pediatr. 2006;
differentiate 21α- from 11β-hydroxylase deficiency. If genitoplasty depending on the degree of 148:445.
17OHP is normal, T/DHT ratio along with androgen r Hughes IA, Houk CP, Ahmed SF, et al. Consensus
masculinization:
precursors pre-/post-hCG stimulation (if >3 months) – This surgery has 3 main aims: Increasing the statement on management of intersex disorders.
will help elucidate the 46XY DSD etiology. A failure to opening of the vagina with separation from the International Consensus Conference on Intersex.
respond to hCG in combination with elevated LH/FSH urethra, reconstructing the female labia, and Arch Dis Child. 2006;91(7):554–563.
levels is consistent with anorchia. reducing the size of the enlarged, masculinized r Lambert SM, Villain EJ, Kolon TF. A practical
Imaging clitoris if significant. approach to ambiguous genitalia in the newborn
r Ultrasound can detect gonads in the inguinal region – Most cases need early surgery to separate the period. Urol Clin North Am. 2010;37(2):195–205.
(where they are also most easily palpable) but are urinary system from the genital system for
only 50% accurate in showing intra-abdominal technical and psychological reasons.
testes: r Some gonads need to be removed owing to the risk CODES
– These tests are also helpful in identifying a uterus. of tumor formation. Controversy exists concerning
r A genitogram may be performed to evaluate a the best time to perform orchiectomies in a child ICD9
urogenital sinus including the entry of the urethra with complete AIS reared as female (at diagnosis vs. 752.7 Indeterminate sex and pseudohermaphroditism
and vagina: after puberty). Streak gonads in the presence of a Y
– A cervical impression can be identified on the chromosome and dysgenetic abdominal testes ICD10
r Q56.3 Pseudohermaphroditism, unspecified
vaginogram. should be removed. All other undescended testes
r Although more expensive, a gadolinium-enhanced r Q56.4 Indeterminate sex, unspecified
need to be anchored in the scrotum by abdominal or
MRI may also help to delineate the anatomy. inguinal orchidopexy. Dysgenetic testes in the
scrotum need to be followed closely.
DIFFERENTIAL DIAGNOSIS r Urethral reconstruction of hypospadias is performed
The differential diagnosis initially depends on the
in all children raised as boys at about 6 months of
palpability of gonads on presentation:
r If no gonads are palpable, all 4 categories are age.
possible:
– Of these, 46XX DSD is most commonly seen,
followed by MGD.
r If 1 gonad is palpable, 46XX DSD and PGD are ruled
out because ovaries and streak gonads do not
descend. MGD, ovotesticular, and 46XY DSD remain
possibilities.

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DISSEMINATED INTRAVASCULAR COAGULATION

Char Witmer

ETIOLOGY
BASICS Most common causes are sepsis (particularly DIAGNOSIS
Gram-negative), hypotensive shock, and trauma
DESCRIPTION (particularly head trauma). HISTORY
r Disseminated intravascular coagulation (DIC) is an r Presence of one of the underlying conditions (see
r Sepsis/severe infection:
acquired syndrome that is always secondary to an “Etiology”)
– Bacterial Gram-negative and -positive sepsis r Abrupt onset of bleeding
underlying etiology. – Meningococcemia
r It is a systemic life-threatening process characterized r Prolonged bleeding from venipuncture sites
– Malaria: Plasmodium falciparum
by an uncontrolled activation of the coagulation and r Bleeding from multiple sites, especially
– Fungal: Aspergillus
fibrinolytic systems with excessive thrombin – Rickettsial: Rocky Mountain spotted fever venipunctures, cutdown sites, mucous membranes,
generation and the consumption of coagulation – Viral skin, GI tract, and genitourinary tract
factors and platelets. r Trauma r Pulmonary or intracranial hemorrhage
r Widespread deposition of microthrombi can r Major organ dysfunction: Pulmonary, renal, hepatic
– Multiple fractures with fat emboli
compromise perfusion and lead to organ failure. – Massive soft tissue injury
r Ongoing activation and consumption of coagulant PHYSICAL EXAM
– Severe head trauma r Signs of underlying disease
factors and platelets can result in diffuse and – Multiple gunshot wounds r Generally, a very toxic-appearing patient
profuse bleeding. r Malignancies:
r Ecchymosis and petechiae
EPIDEMIOLOGY – Acute promyelocytic leukemia r Bleeding from previously intact venipuncture sites
r Most commonly secondary to infections – Acute monoblastic or myelocytic leukemia
r Skin infarctions (purpura fulminans) secondary to
r Overall incidence is difficult to determine secondary – Widespread solid tumors (e.g., neuroblastoma)
r Obstetric: thrombosis of dermal vessels
to the many conditions that cause DIC. r Pulmonary hemorrhage, gastrointestinal bleeding,
– Retained intrauterine fetal death
PATHOPHYSIOLOGY – Preeclampsia/eclampsia bleeding from surgical wounds, hematuria
r Not a disorder in itself; occurs as a result of various r Intraperitoneal and pleural hemorrhages
– Amniotic fluid embolism
initiating events – Abruptio placentae
r Characterized by microvascular thrombosis and DIAGNOSTIC TESTS & INTERPRETATION
– Post hemorrhagic shock
hemorrhage r Neonatal: Lab
r May be acute (e.g., meningococcemia) or chronic The following should be followed closely because
– Necrotizing enterocolitis results change rapidly:
(e.g., malignancy/leukemia) – Perinatal asphyxia r CBC: Decreased platelet count is often the earliest
r There is a systemic intravascular deposition of fibrin – Amniotic fluid aspiration
as a result of increased thrombin generation, – Obstetric complications (placenta abruption, abnormality.
r Peripheral smear: Schistocytes, microspherocytes
suppression of anticoagulant pathways, impaired preeclampsia, intrauterine twin demise)
fibrinolysis, and activation of inflammatory – Sepsis (bacterial and viral) Erythroblastosis fetalis (50% of cases)
– Respiratory distress syndrome r PT, aPTT, and thrombin times: Prolonged
pathways.
r The initiation of coagulation activation leading to r Vascular Malformations: r Fibrinogen: in the initial phase could be increased as
thrombin formation in DIC is mediated via the tissue – Kasabach–Merritt syndrome an acute-phase reactant and then decrease with
factor/factor VIIa pathway. – Large vascular aneurysms consumption
r The tissue factor/factor VIIa pathway is activated via r Miscellaneous: r Fibrin degradation products or fibrin split products:
tissue factor expression from damaged endothelial – Acute hemolytic transfusion reaction Increased
cells. – Snake bite r Soluble fibrin monomer complexes (D-dimers):
r Anticoagulant pathways are diminished because of – Homozygous protein C deficiency (purpura Increased
a decrease in the plasma levels of antithrombin and fulminans) r Antithrombin or protein C levels: Decreased
the protein C system through impaired production – Transplant rejection r Factor VIII: In the initial phase could be increased as
and increased destruction. – Severe collagen vascular disease an acute-phase reactant and then decrease with
r The increase in fibrinolytic activity is likely secondary – Recreational drugs consumption. Factor VIII should be normal in
to the release of plasminogen activators from – Profound shock or asphyxia coagulopathy associated with liver disease.
damaged endothelial cells. – Hypothermia or hyperthermia
– Extensive burn injuries
– Fulminant hepatitis/hepatic failure
– Severe pancreatitis

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r There is no single test that can reliably diagnose DIC. r In pediatric DIC recombinant activated protein C has r Levi M. Disseminated intravascular coagulation:
r The following lab abnormalities can be seen: not been shown to be beneficial. What’s new? Crit Care Clin. 2005;21:449–467.
– Prolonged PT in 50–75% of patients with DIC r Off label use of recombinant activated factor VII has r Montagnana M, Franchi M, Danese E, et al.
– Prolonged aPTT in 50–60% of patients with DIC been reported for patients with severe bleeding that Disseminated Intravascular Coagulation in Obstetric
– Elevated fibrin degradation products sensitivity is refractory to replacement therapy. There are and Gynecologic Disorders. Seminars in Thrombosis
90–100%, but low specificity significant concerns about the prothrombotic & Hemostasis. 2010;36(4):404–418.
– Elevated d-dimer in 93–100% of patients with potential of this medication. r Pipe SW, Goldenberg N. Acquired disorders of
DICThrombocytopenia: Range 20–100 × 109/L r Antifibrinolytic agents (aminocaproic or tranexamic hemostasis. In: Orkin SH, Nathan DG, Ginsburg D,
r Additional findings include decreased coagulation acid) have been used for patients with intense A. Thomas Look, David E. Fisher, Samuel E. Lux, eds.
factors, fibrinogen, antithrombin, and protein C/S fibrinolysis (e.g., Kasabach Merritt or acute Nathan and Oski’s Hematology of Infancy and
r Multiple scoring systems utilizing common promyelocytic leukemia). There are concerns about Childhood. 7th ed. Philadelphia: Saunders Elsevier;
laboratory results have been developed to help the prothrombotic potential of this medication. 2009:1591–1620.
determine if a patient is in DIC. These scoring r Supportive care: Manage other organ system failure. r Veldman A, Fischer D, Nold MF, et al. Disseminated
systems have not been validated in pediatric intravascular Coagulation in Neonates and Preterm
patients. Neonates. Seminars in Thrombosis & Hemostasis.
D
ONGOING CARE 2010;36(4):419–428.
DIFFERENTIAL DIAGNOSIS
r Coagulopathy of liver disease PROGNOSIS
r Vitamin K deficiency r Poor unless underlying disease is treated
r Pathologic fibrinolysis r The intensity and duration of DIC depend on the CODES
r Microangiopathic disease, e.g., thrombotic degree of activation of the coagulation system, liver
function, blood flow, and ability to reverse ICD9
thrombocytopenic purpura or hemolytic uremic r 286.6 Defibrination syndrome
syndrome underlying etiology that has led to DIC.
r 776.2 Disseminated intravascular coagulation in
COMPLICATIONS newborn
r Hemorrhage:
TREATMENT – Pulmonary ICD10
r D65 Disseminated intravascular coagulation
– Intracranial
ADDITIONAL TREATMENT r Thrombosis r P60 Disseminated intravascular coagulation of
General Measures r Multiorgan system failure newborn
r The most important therapy for DIC is to treat the
underlying disorder.
r Supportive therapy may be required to treat
ADDITIONAL READING
symptomatic coagulation abnormalities.
r Replacement therapy: r Favaloro EJ. Laboratory Testing in Disseminated
– Cryoprecipitate, platelets, and fresh frozen plasma Coagulation. Seminars in Thrombosis & Hemostasis.
to control bleeding. 2010;36(4):458–467.
– Fresh frozen plasma also replaces r Levi M. Disseminated intravascular coagulation. Crit
anticoagulants–antithrombin, protein C and S. Care Med. 2007;35(9):2191–2195.
r The role of heparin for DIC is controversial. It has
been used in chronic DIC, arterial thromboses, or
large-vessel venous thromboses.
r Antithrombin at supraphysiologic dosing has been
studied with mixed results. Antithrombin is currently
not recommended for the treatment of DIC in
pediatric patients.

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DOWN (TRISOMY 21) SYNDROME

Esther K. Chung

Incidence r Neck:
BASICS 1/600–1/800 live births, although incidence varies – In infancy, excess skin at the nape
with maternal age: – Short appearance
DESCRIPTION r 1/1,500 for maternal ages 15–29 years – Occasionally webbed
Syndrome 1st described by John Langdon Down in r 1/800 for maternal ages 30–34 years r Heart: Assess for murmur, arrhythmia, cyanosis.
1866 consisting of multiple abnormalities, including r 1/270 for maternal ages 35–39 years r Abdomen:
hypotonia, flat facies, upslanting palpebral fissures, r 1/100 for maternal ages 40–49 years – In neonate, distention may be present due to
and small ears; also called “Trisomy 21.” Other obstruction or atresia.
abnormalities include: RISK FACTORS – Diastasis recti
r Congenital heart disease (40–50%; most not Genetics r Genitals:
symptomatic as newborn): r 94–97% of cases are the result of chromosomal – In adolescents, straight pubic hair
– Atrioventricular (AV) canal (60% of those with nondisjunction (failure to segregate during meiosis) – In males, small penis, cryptorchidism
congenital heart disease) in the maternal DNA. r Extremities:
– Ventriculoseptal defect (VSD) r <5% of cases are the result of paternal – Broad hands, with short metacarpals and
– Patent ductus arteriosus (PDA) nondisjunction. phalanges
– Atrioseptal defect (ASD) r Of live births, 2.4% are mosaic (nondisjunction – 5th finger with hypoplasia of the midphalanx
– Aberrant subclavian artery occurs after conception; 2 cell lines are present); (60%) and clinodactyly (50%)
– Tetralogy of Fallot generally less severely affected. – Simian crease (single transverse palmar crease) in
r Hearing loss (66–75%): Sensorineural and r Remainder of cases are the result of translocations ∼50%. A newborn with a simian crease has a 1
conductive between chromosome 21 and 14 [t(14q21q)]; rarely in 60 chance of having Down syndrome.
r Strabismus (33–45%) – Wide gap between the 1st and 2nd toes (96%)
between 21 and 13 or 15; 50% of translocations
r Nystagmus (15–35%) are sporadic de novo events; 50% result from – Syndactyly of 2nd and 3rd toes
r Fine lens opacities (by slit-lamp exam, 59%), balanced translocations in 1 parent. – Hyperflexibility of joints
cataracts (1–15%) r Skin:
r Refractive errors (50%) – Cutis marmorata (43%)
r Nasolacrimal duct stenosis DIAGNOSIS – In older children, hyperkeratotic dry skin (75%)
r Delayed tooth eruption – Fine, soft, sparse hair
HISTORY
r Tracheoesophageal fistula r Check for previous history of infant with Down DIAGNOSTIC TESTS & INTERPRETATION
r GI atresia (12%) syndrome in the family. r ECG: Done within the 1st month of life to rule out
r Celiac disease r Growth and developmental status cardiac disease
r Meckel diverticulum r Feeding problems r Auditory brainstem response: Done within the 1st
r Hirschsprung disease (<1%) r Snoring, signs of sleep apnea (e.g., restless sleep) 3 months of life to rule out hearing loss
r Imperforate anus r Stool habits Lab
r Renal malformations r Hearing concerns r 2nd-trimester prenatal triple screen test
r Hypospadias (5%) (α-fetoprotein [AFP], unconjugated estriol, and
PHYSICAL EXAM
r Cryptorchidism (5–50%) human chorionic gonadotropin [hCG]):
The phenotype is variable from person to person.
r Testicular microlithiasis – Performed at 15–18 weeks
r General:
r Thyroid disease (15%): Congenital hypothyroidism, – These 3 serum markers together can detect
– Short stature ∼60% of the pregnancies affected by Trisomy 21,
hyperthyroidism – Hypotonia (80–100%), with an open mouth and a with a false positive of ∼5%.
r Transient myeloproliferative disorder, neonatal protruding tongue – A positive test is an indication for karyotyping
(leukemoid reaction) – Midface hypoplasia with amniocentesis.
r Neonatal polycythemia r Head: r 1st-trimester maternal serum screening
r Leukemia (<1%; 10–30 times greater risk than in – Brachycephaly with a flattened occiput (pregnancy-associated plasma protein A and free
general population) – Microcephaly β-hCG): When these 2 tests are conducted together,
r Retinoblastoma and testicular germ cell tumors – False fontanel (95%) it has been shown in multiple studies to have higher
(slightly greater risk than in general population) r Eyes: sensitivity than 2nd-trimester prenatal screens (91%
r Infertility, especially in males – Upslanting palpebral fissures (98%) vs. 70%).
r Obesity – Inner epicanthal folds r Chromosomal karyotype on cultured lymphocytes
r Alopecia areata (10–15%) – Brushfield spots (speckling of the iris) from peripheral blood: May be performed
r Seizures (5–10%), usually myoclonic – Fine lens opacities on slit-lamp exam postnatally for confirmation if there is a clinical
r Alzheimer disease (nearly all age >40 years) – Cataracts, refractive error, strabismus, and suspicion of Down syndrome.
r Mild to moderate mental retardation (IQ range nystagmus r CBC:
r Ears: Small, prominent, low set; overfolding of upper
25–70) – In the newborn period to check for polycythemia
r Dry, hyperkeratotic skin (75%) helix and small canals and transient myeloproliferative disorder; repeat
r Nose: Small (85%); flat nasal bridge test in adolescence.
EPIDEMIOLOGY r Tongue: – Down syndrome patients may have an increased
r Male > female (1.3:1) – Relative but not true macroglossia (tongue mass is mean corpuscular volume (MCV), making the
r Best recognized and most frequent chromosomal normal) diagnosis of iron deficiency anemia difficult.
syndrome of humans – Fissuring r Thyroid function tests: To rule out hypothyroidism or
r 1 of the 3 most common autosomal trisomies in r Mouth: High-arched or abnormal palate hyperthyroidism
humans (others are Trisomy 18 and 13) r Teeth:
r Most common autosomal chromosomal abnormality – Missing (50%), small, hypoplastic
causing mental retardation – Irregular placement
r >50% of Trisomy 21 fetuses are spontaneously
aborted in early pregnancy.

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DOWN (TRISOMY 21) SYNDROME

Imaging r Ophthalmologic: r Mik G, Gholve PA, Scher DM, et al. Down syndrome:
r 1st-trimester ultrasound measurement of nuchal – Early evaluation for cataracts and glaucoma Orthopedic issues. Curr Opin Pediatr. 2008;20(1):
translucency: Performed in the 1st trimester along – Visit to ophthalmologist by 6 months, then every 30–36.
with maternal serum screening (see “Lab”) 2 years r Roizen NJ, Patterson D. Down’s syndrome. Lancet.
r Fetal ultrasound: r Ear, nose, and throat (ENT)/audiologic: 2003;361:1281–1289.
– May show polyhydramnios if bowel obstruction is – Annual audiologic evaluation in the 1st 3 years of r Rosen T, D’Alton ME. Down syndrome screening in
present life, then every other year the first and second trimesters: What do the data
– A thickened nuchal fold, an absent nasal bone in r Orthopedic: Screen for atlantoaxial instability with show? Semin Perinatol. 2005;29:367–375.
the 1st trimester, and echogenic intracardiac foci radiography in preschool years, then every decade; r Vachon L, Fareau GE, Wilson MG, et al. Testicular
have been associated with an increased risk for evaluate for atlantoaxial instability prior to microlithiasis in patients with Down syndrome.
Down syndrome. participation in contact sports (e.g., Special J Pediatr. 2006;149:233–236.
r Echocardiography and chest radiography: Done in Olympics).
the 1st month of life to rule out cardiac disease r Endocrine: Thyroid function tests in newborn period,
r Lateral cervical spine radiographs in flexion, neutral, ages 6 months and 12 months, then yearly CODES
and extension: To rule out atlantoaxial instability, D
defined as >5-mm space between atlas and ALERT
r Use caution with endotracheal intubation if ICD9
odontoid process of the axis. Important measures 758.0 Down’s syndrome
include: absence or presence of atlantoaxial instability is
– Atlantodens interval (ADI; normal <4.5 mm): The unknown to avoid spinal cord injury, which may ICD10
distance between the posterior surface of the be seen in rare cases. Q90.9 Down syndrome, unspecified
anterior arch of C1 and the anterior surface of the r Hearing loss may be misinterpreted as a
dens behavioral problem.
– Neural canal width (NCW; normal ≥14 mm): The r Use care with atropine and pilocarpine for
FAQ
distance between the posterior surface of the dens r Q: Why was Down syndrome referred to as
ophthalmologic evaluation because of possible
and the anterior surface of the posterior arch of C1 mongolism in the past?
cholinergic hypersensitivity.
– Distance of subluxation at the occipitoatlantal r A: There was a mistaken notion about a racial cause
joint: Normally ≥7 mm for this syndrome because of the facial appearance,
PROGNOSIS
Diagnostic Procedures/Other r Life expectancy is mildly decreased, with many living which was thought to be similar to that of those of
r Prenatal karyotyping via amniocentesis Mongoloid origin.
into the 6th decade; median age of death is
(16–18 weeks’ gestation) or chorionic villus 49 years. r Q: Do all children with Down syndrome have mental
sampling (9–11 weeks’ gestation): r Alzheimer disease affects ∼15% after the 4th retardation?
– Performed for any woman who presents with a decade. r A: No. Though all persons with nonmosaic Down
positive triple or quad screen r As adults, most patients with Down syndrome can syndrome have some degree of cognitive disability,
– May be offered if prenatal ultrasound reveals a some have IQs >70 and are not considered to have
work in supported positions.
finding associated with Down syndrome mental retardation.
– Because this test fails to detect 10–15% of Down COMPLICATIONS r Q: Can a normal cardiac exam rule out the presence
syndrome cases in older women, amniocentesis is r Otitis media with effusion (50–70%)
r Sinusitis of a cardiac anomaly?
typically offered to all women >35 years. r A: No. The American Academy of Pediatrics
r Tissue sample other than blood (usually skin): To r Tonsillar and adenoidal hypertrophy
recommends that all patients with Down syndrome
check for mosaicism r Obstructive airway disease with associated sleep
have a cardiology consultation within the 1st month
apnea (33–75%), cor pulmonale of life. Timely surgery may be necessary to prevent
r Obstructive bowel disease (12%, newborn period)
ONGOING CARE r Constipation (due to low tone and decreased gross
serious complications.
r Q: Are patients with atlantoaxial instability
FOLLOW-UP RECOMMENDATIONS motor mobility) symptomatic?
r Genetic counseling is recommended. r Subluxation of the hips (secondary to ligamentous r A: No. Most are asymptomatic, but symptoms of
r Many organizations (e.g., Down Syndrome
laxity) cord compression may be seen in 1–2% of patients.
International) are available to families of children r Atlantoaxial instability (10–20%; secondary to r Q: I have seen growth charts for Down syndrome
with Down syndrome. ligamentous laxity, which is most severe prior to age patients that allow for plotting of lengths, heights,
Patient Monitoring 10 years) and weights. Are there special growth charts
r Growth and development: available for plotting head circumference?
– Specific growth charts for Down syndrome should r A: Yes. If appropriate growth charts are not used for
be used. ADDITIONAL READING plotting head circumference, head growth may
– Average age for acquiring developmental r American Academy of Pediatrics. Health supervision appear abnormal. Head circumference growth
milestones differs from normal population. for children with Down syndrome. Pediatrics. charts are available through the Internet:
– Late closure of fontanelles 2001;107:442–449. http://www.growthcharts.com/
– Consider Early Intervention program for hypotonia r Crissman BG, Worley G, Roizen N, et al. Current
and developmental delay.
r Cardiac: perspectives on Down syndrome: Selected medical
and social issues. Am J Med Genet Part C Semin
– Early evaluation in newborn period, with follow-up Med Genet. 2006;142C:127–130.
until the presence or absence of disease is evident. r Dykens EM. Psychiatric and behavioral disorders in
– Subacute bacterial endocarditis prophylaxis for
person with Down syndrome. Ment Retard Dev
patients with certain types of cardiac disease.
Disabil Res Rev. 2007;13(3):272–278.

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DROWNING
Mercedes M. Blackstone

PATHOPHYSIOLOGY r Circulation:
BASICS r Drowning begins with a loss of the normal – Perfusion, strength of distal pulses, capillary refill,
breathing pattern as panic ensues and subsequent urine output
DESCRIPTION apnea, laryngospasm, or aspiration occurs. r GI tract:
r Drowning is defined as respiratory impairment from r Water aspirated into the trachea and lungs washes – Abdominal distention from swallowed water or
submersion in a liquid medium. out surfactant, and leads to atelectasis, ventilation
r The term “drowning” does not imply outcome; a intrapulmonary shunting, poor lung compliance, r Musculoskeletal:
victim may live or die after a drowning incident. increased capillary permeability, and hypoxemia – Neck injuries in high impact drownings
r Historically “near drowning,” or submersion injury, ultimately resulting in acute respiratory distress
was defined as survival, at least temporarily, after syndrome (ARDS). DIAGNOSTIC TESTS & INTERPRETATION
suffocation by submersion in water. r Severe hypoxemia is the final common pathway and Lab
r Arterial blood gases:
– The World Congress on Drowning and the World results in multisystem organ failure
Health Organization advocate abandoning r Cerebral hypoxia results in cerebral edema and – To detect and facilitate treatment of metabolic
confusing terms such as “near drowning,” “wet increased intracranial pressure and causes the acidosis in the child with respiratory distress or
drowning,” and “dry drowning”; they suggest majority of morbidity and mortality associated with apnea
r Electrolytes:
that the literature should only use the term drowning.
“drowning.” – Not indicated in the seemingly well child;
COMMONLY ASSOCIATED CONDITIONS aspiration of huge amounts of water are required
EPIDEMIOLOGY r Cervical spine injuries should be considered in older
r Drowning is second only to motor vehicle collisions to generate electrolyte shifts
children who have experienced diving accidents. r Blood glucose:
as the most common cause of death from r Signs of child abuse or neglect should be sought in
– An elevated level correlates with poor outcome for
unintentional injury in childhood. young children.
r For every drowning death, several children are comatose submersion victims
r Adolescents may have associated toxic ingestions. r Anticonvulsant levels for victims with seizure
hospitalized and many more have submersion r Comorbid conditions such as epilepsy, long QT disorders
events with no significant morbidity. syndrome, and autism with mental retardation may r Toxicology screening when ingestion suspected
r Bimodal age distribution with peak in children
be associated with an increased risk of drowning.
<5 years and again among adolescents 15–19 years Imaging
r Bathtub drowning is common in babies, and child r A chest radiograph is indicated for children with any
neglect or abuse should be considered. DIAGNOSIS signs of pulmonary involvement and following
r Adolescent submersion injuries usually involve intubation
substance abuse or risk-taking behavior. HISTORY – Caution: Initial chest radiographs may be normal
r Mechanism: in the drowning victim.
r Highest incidence in males, African Americans,
– History of diving or other high-impact injury r Cervical spine films are indicated for victims of
children of low socioeconomic status, and residents
– Intoxication high-impact events.
of southern states. r Neuroimaging for cerebral anoxic injury
– Seizure disorder
RISK FACTORS – Cardiac arrhythmia
r Children <5 years of age, especially toddlers and – Child abuse Diagnostic Procedures/Other
r Prognostic indicators; the following have been r ECG to document normal function and evaluate for
boys, who cannot swim and have direct access to
swimming pools, are at highest risk. correlated with a poor prognosis: prolonged QTC if indicated by history
r Use of alcohol and illicit drugs r Serial pulse oximetry to detect early signs of
– Age <3 years
r Inadequate adult supervision – Length of submersion >5 minutes pulmonary involvement
r Children with seizure disorders – Time to effective CPR >10 minutes DIFFERENTIAL DIAGNOSIS
r Children with primary cardiac arrhythmias such as – Lack of vital signs at the scene Children with smoke inhalation or hydrocarbon
long QT syndrome – Length of resuscitation >25 minutes ingestion may have similar presentations. However,
– Warmer water: Submersion in very cold water the history and the physical exam should easily
GENERAL PREVENTION (<5◦ C [41◦ F]) may have a good prognosis determine the diagnosis.
r Most drownings are preventable.
despite submersion time >5 minutes
r Legislation to require adequate 4-sided isolation
PHYSICAL EXAM TREATMENT
fencing and rescue equipment for public and r Vital signs with core temperature
residential pools r Drowning victims with unclear histories must be
r Restriction of sale and consumption of alcohol in MEDICATION (DRUGS)
treated as trauma victims r Prophylactic antibiotics or steroids are not
boating areas, pools, and beaches r Neurologic:
r Life vests for children of all ages near bodies of water indicated.
r Parental education regarding adequate supervision – Pupillary response, cranial nerve findings, – In patients that do develop pneumonia,
Glasgow coma scale (GCS) score, gag reflex antimicrobial therapy should cover water-borne
during bathing and around swimming pools – Serial neurologic exams should be performed to
r Cardiopulmonary resuscitation (CPR) courses for pathogens such as Pseudomonas and Aeromonas.
assess neurologic outcome. Children with a GCS r Seizures should be aggressively controlled with
pool owners, parents and older children score <5 after resuscitation usually have a poor
r Swimming lessons for young children may also be antiepileptics since they increase oxygen
neurologic outcome. consumption.
helpful r Respiratory:
– Lower airway findings (rales, tachypnea, ADDITIONAL TREATMENT
wheezing, retractions, nasal flaring) General Measures
r Attempts to remove water from the lungs such as
– Drowning victims may have deteriorating
pulmonary involvement despite an initially normal abdominal thrusts are not helpful and should not
exam. Watch closely for signs of lower airway delay administration of rescue breaths.
involvement. r Patients who are breathing spontaneously should be
placed in the right lateral decubitus position to
prevent aspiration.

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DROWNING

r Even patients who respond well to bystander Admission Criteria r Disseminated intravascular coagulation secondary to
resuscitation need to be transported to an r Severely ill children require admission to the ischemia
emergency department for further monitoring. intensive care unit r Electrolyte abnormalities uncommon; may occur if a
r Search for pulses carefully since they may be very r Children who were apneic, cyanotic, or pulseless at large volume of freshwater is in the stomach and
weak and slow due to hypothermia; some common the scene should be admitted to the hospital for not removed
arrhythmias such as sinus bradycardia and atrial close observation even if they appear well. r Hypothermia in cold water drowning
fibrillation need no immediate treatment. r A subset of well appearing children may be
r The hypothermic patient who is a warm-water discharged from the emergency department after
(>20◦ C [86◦ F]) drowning victim does not have a being monitored for 6–8 hours ADDITIONAL READING
good prognosis or need vigorous rewarming. r American Academy of Pediatrics Committee on
IN-PATIENT CONSIDERATIONS ONGOING CARE Injury, Violence, and Poison Prevention. Prevention
Initial Stabilization of drowning. Pediatr. 2010;126(1):178–185.
r Airway: FOLLOW-UP RECOMMENDATIONS r Hwang V, Shofer FS, Durbin DR, et al. Prevalence of
r Long-term follow-up of apparently neurologically
– Protect the cervical spine if indicated by history.
intact survivors has shown mild coordination or
traumatic injuries in drowning and near drowning in D
– Ensure a patent airway in the comatose victim or children and adolescents. Arch Pediatr Adolesc Med.
patient in cardiac arrest. gross-motor deficiencies. 2003;157:50–53.
r Breathing: r Drowning victims may be at increased risk for r Meyer RJ, Theodorou AA, Berg RA: Childhood
– Supplemental oxygen for oxygen saturations by chronic lung disease, depending on the degree of drowning. Pediatr Rev. 2006;27(5):163–168.
pulse oximetry <95% pulmonary involvement. r Noonan L, Howrey R, Ginsburg CM: Freshwater
– The drowning victim should be intubated if Patient Monitoring submersion injuries in children: A retrospective
apneic, unable to maintain a PaO2 >60 mm Hg r Victims who appear well: review of seventy-five hospitalized patients.
on high fractions of supplemental oxygen, or for – Monitor with pulse oximetry for progressive Pediatrics. 1996;98(3):368–371.
airway protection respiratory distress r Papa L, Hoelle R, Idris A. Systematic review of
– Treatment of bronchospasm – If asymptomatic at 6–8 hours postimmersion, can definitions for drowning incidents. Resuscitation.
r Circulation: be discharged 2005;65(3):255–264.
– For the victim with cardiopulmonary arrest, the r Victims with significant neurologic injury: Key is to r Thompson DC, Rivara F. Pool fencing for preventing
asystole protocol should be followed prevent secondary injury: drowning of children. Cochrane Database Syst Rev.
– Since capillary leak may occur after an – Maintain euvolemia and euglycemia 2010:CD001047.
ischemic/anoxic episode, isotonic fluids (e.g.,
normal saline solution or Ringer lactate, 10-mL/kg PROGNOSIS
r Most children (about 75%) recover with intact
aliquots) should be given for signs of intravascular
neurologic survival.
CODES
volume depletion (tachycardia, poor perfusion)
r Duration and severity of initial hypoxic insult are
until normalized. ICD9
– ECG monitoring should be provided with most important determinants of brain injury and
death. 994.1 Drowning and nonfatal submersion
appropriate response to dysrhythmias, especially
for the hypothermic, cold-water drowning victim. r See prognostic factors above under History section. ICD10
Additional indicators of poor prognosis include: r T75.1XXA Unsp effects of drowning and nonfatal
– For severely hypothermic patients with a core
temperature <28◦ C (82.4◦ F), aggressive – Coma on arrival submersion, init
rewarming is indicated. Electrical defibrillation – Needing CPR in the emergency department r T75.1XXD Unsp effects of drowning and nonfatal
and pharmacotherapy may not be successful. – Initial arterial blood pH <7.1 submersion, subs
r Disability: r Children with warm-water submersion time r T75.1XXS Unsp effects of drowning and nonfatal
– Maintenance of eucapnia and adequate >4 minutes, who do not receive CPR at the scene, submersion, sequela
oxygenation to prevent further hypoxemia and who have absent vital signs or a GCS score <5
– Elevate the head of the bed once c-spine is cleared in the emergency department, usually have a poor
r Other measures for reducing intracranial pressure prognosis. FAQ
(ICP) have not proven effective, likely because the r Victims who have prolonged submersions in very
r Q: Should the drowning victim who arrives at the
brain injury and swelling is secondary to hypoxic cell cold water (<5◦ C [41◦ F]) may have a good
injury as opposed to a traumatic lesion. prognosis because of core cooling with a hospital with cardiopulmonary arrest be
r Exposure: concomitant decrease in metabolic rate while the resuscitated?
r A: Yes, a brief (10–15 minutes) attempt at
– The drowning victim should be dried and warmed. brain is still being perfused.
– Most thermometers do not register temperatures r A good prognostic indicator is continuing resuscitation is indicated until circumstances of the
below 34◦ C (93.2◦ F) so a hypothermia improvement in the neurologic examination over the drowning and core temperature are known.
thermometer may be necessary: first several hours. Warm-water drowning victims who require CPR in
◦ For core temperatures 32◦ C (89.6◦ F) to 35◦ C the emergency department may rarely (0–25%)
COMPLICATIONS have good neurologic recovery, but these patients
(90.5◦ F), active external rewarming with r Pneumonia
heating blankets or radiant warmers usually respond quickly (<15 minutes) to therapy.
r Pneumomediastinum or pneumothorax in the r Q: Is artificial surfactant useful in drowning victims?
◦ For <32◦ C (89.6◦ F), active internal rewarming
patient undergoing ventilation therapy r A: Although useful in neonates, surfactant has not
added (heated aerosolized oxygen and IV fluids, r Brain injury secondary to hypoxia
gastric and bladder lavage with warm saline) been found to be beneficial for acute lung injury.
r Pulmonary injury with intrapulmonary shunting
◦ For severe hypothermia (<28◦ C [82.4◦ F]) and Further investigation is needed before it can be
where available, peritoneal dialysis or secondary to damage of the alveoli recommended for clinical use.
r ARDS
hemodialysis, mediastinal irrigation, and cardiac
bypass r Metabolic acidosis secondary to hypoxemia
◦ The cold-water drowning victim with r Ischemic injury to organs such as liver, kidneys, and
hypothermia must be rewarmed to a intestines
temperature >34◦ C (89.6◦ F) before CPR is
terminated.
r Remember: The saying, “The patient is not dead
until he or she is warm and dead” only applies to
drownings in very cold water.

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DYSFUNCTIONAL UTERINE BLEEDING

Leonard J. Levine
Jonathan R. Pletcher

r Cramping suggests ovulation and the presence of r Wet mount or vaginal swab may be unreliable but
BASICS progesterone; anovulatory cycles are thus less likely. should be attempted for presence of WBCs and
r Increased time lapse between menarche and onset trichomonas. In some labs Trichomonas vaginalis
DESCRIPTION of DUB lessens the likelihood of anovulatory cycles. antigen tests may be available.
r Bleeding beyond the range of normal menses, with r Easy bruisability, epistaxis, and/or bleeding gums r Consider prolactin level and thyroid function tests:
“normal” defined as duration of 2–8 days, occurring may be suggestive of a bleeding disorder. Hyperprolactinemia may have several causes,
every 21–40 days, with blood loss of 20–80 mL/cycle r A family history of thyroid disease, bleeding disorder, including pituitary microadenoma, and result in
r May vary in presentation from heavy, long menses amenorrhea or DUB.
PCOS, or DUB will help guide the laboratory workup.
followed by long periods of amenorrhea to short, r Ask about sexual abuse when conducting the sexual r Prothrombin and partial thromboplastin time, von
heavy menses occurring every 1–2 weeks history. Sexual abuse not only may result in bleeding Willebrand factor: To assess for hematologic causes
r Most commonly results from anovulatory cycles, of bleeding
from trauma but also may be a source of sexually
which are secondary to an immature transmitted diseases and pregnancy. r Androgen levels, including testosterone (total and
hypothalamic–pituitary–ovarian axis free); dehydroepiandrosterone sulfate (DHEAS);
PHYSICAL EXAM androstenedione: Abnormal levels are supportive of
EPIDEMIOLOGY r Often normal in patients with DUB
r Most commonly occurs within the first 2 years of r Assess vital signs, including orthostatic BPs, for signs PCOS or other hyperandrogenic state.
menarche when >50% of cycles are anovulatory of cardiac instability resulting from severe blood loss. Imaging
r Later age at menarche results in longer duration of r Pelvic ultrasound:
r Skin or mucosal pallor, elevated heart rate, or flow
anovulation – Indicated when pregnancy is suspected (ectopic or
r Most females who experience anovulatory cycles do murmur may be indicative of anemic state.
r Assess sexual maturity rating (SMR, or Tanner intrauterine)
not develop dysfunctional uterine bleeding (DUB). – Consider when a pelvic mass is felt, uterine
stage). Menarche usually does not occur before SMR anomaly is being considered, or bimanual
RISK FACTORS 3, so bleeding before this stage suggests a examination cannot be completed.
Genetics nonmenstrual source of bleeding. r MRI of the pelvis: Indicated for patients with a
r Familial history of anovulatory cycles is common. r Look for signs of androgen excess (e.g., hirsutism,
suspected pelvic mass when ultrasonography does
r Patients with disorders, such as blood dyscrasias and acne), which may be reflective of disrupted not clearly define the anatomy
polycystic ovary syndrome (PCOS), usually have ovulatory function.
r Bitemporal hemianopsia is suggestive of a pituitary DIFFERENTIAL DIAGNOSIS
familial histories including these disorders.
adenoma leading to hyperprolactinemia. Only 1/3 of ∼80% of abnormal uterine bleeding in adolescents
PATHOPHYSIOLOGY adolescents with hyperprolactinemia will experience can be attributed to anovulatory cycles. However, it is
r In most cases presenting within 2 years of
galactorrhea. important to rule out other causes of irregular or
menarche, anovulation (failure to ovulate) results in r Assess for evidence of thyroid disease, hematologic heavy vaginal bleeding.
absence of the corpus luteum. Without the secretory r Pregnancy: Should be considered and ruled out in
disorder (e.g., bruising, petechiae), or systemic
effect of progesterone from the corpus luteum, every patient, regardless of patient’s reported sexual
disease (e.g., poor nutritional status).
endometrial proliferation continues because of r Speculum-assisted pelvic examination may help history
unopposed estrogen. – Ectopic pregnancy
r The thickened endometrium eventually outgrows determine source of bleeding. Bimanual
examination is helpful in assessing ovarian or – Threatened abortion, incomplete abortion
support from the basal endometrium, resulting in – Placenta previa
uterine masses, cervical motion or adnexal
sloughing of the highest endometrial levels. – Hydatidiform mole
tenderness, and uterine sizing.
Alternatively, cyclic estrogen withdrawal may occur, r Infection:
which will lead to sloughing of the endometrium in DIAGNOSTIC TESTS & INTERPRETATION – Vaginitis (e.g., trichomoniasis)
the absence of progesterone. Lab – Cervicitis or endometritis (e.g., gonorrhea or
r As subsequent levels of endometrium are shed, r Obtain urine or serum-human chorionic
chlamydia)
bleeding increases. Profuse bleeding may result gonadotropin (β-HCG), regardless of sexual history. – Pelvic inflammatory disease
when the basal endometrium is exposed. Urine-HCG testing can reliably detect pregnancy as r Hematologic conditions:
early as 2 weeks postconception; however, it may be – Bleeding disorders often present as heavy periods
positive for up to 2 weeks following an abortion. from time of menarche.
DIAGNOSIS r CBC: Degree of anemia guides treatment plan.
– Thrombocytopenia (e.g., immune
HISTORY Assess for thrombocytopenia. In the setting of acute thrombocytopenic purpura [ITP], leukemia)
r Abnormal bleeding: blood loss, a normal hemoglobin may be falsely – Platelet dysfunction
– Assessing the amount and site of bleeding will reassuring. It is wise to recheck hemoglobin after IV – Coagulation defect (e.g., von Willebrand disease)
help determine the nature and extent of the hydration as decreases may be dramatic. r Endocrinologic disorders:
r For Chlamydia trachomatis and Neisseria
problem. – Thyroid disease, especially hypothyroidism
– Important to know when bleeding began and how gonorrhoeae, obtain cervical cultures or use nucleic – Hyperprolactinemia
much bleeding has occurred to know if the patient acid amplification tests (e.g., PCR or LCR) on urine, – PCOS
is at risk for hemodynamic instability vaginal, or cervical swabs. Be careful to check with – Adrenal disorders
r The pattern of DUB in relation to the menstrual cycle laboratory or NAAT manufacturers’ information as r Trauma: Laceration to vagina or cervix
can help guide the diagnostic workup: to reliability with blood in sample and based on r Foreign body: Usually associated with strong, foul
– Normal cyclic intervals with increased bleeding collection site.
odor
during each cycle may suggest a bleeding disorder.
– Normal intervals with bleeding between cycles
may suggest infection or foreign body.
– Abnormal intervals with no cycle regularity may
suggest anovulatory cycles, endocrinopathy, or
hormonal contraception.

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DYSFUNCTIONAL UTERINE BLEEDING

r Medications: (30–35 mg) after taper complete—antiemetic r Levine LJ, Catallozzi M, Schwarz DF. An adolescent
– Direct effect on hemostasis (e.g., Coumadin, therapy necessary for high doses of estrogen. with vaginal bleeding. Pediatr Case Rev. 2003;
chemotherapeutic agents) Hospitalization of patient during treatment if 3:83–90.
– Hormonal effects (e.g., oral contraceptives, severe anemia (hemoglobin <7 g/dL), if r Rimsza ME. Dysfunctional uterine bleeding. Pediatr
Depo-Provera) hemodynamically unstable, or compliance Rev. 2002;23:227–233 [erratum appears in Pediatr
r Systemic disease: concerns. Blood transfusion as necessary. If Rev. 2002;23].
– Disruption of hypothalamic–pituitary–ovarian axis patient is unstable and unable to tolerate oral pill
– Other examples include systemic lupus regimen, can give IV conjugated estrogen q4h for
erythematosus and chronic renal failure. 24 hours to stop bleeding. Add OCP with CODES
r Primary gynecologic disorders: progesterone as soon as patient is able to tolerate
– Endometriosis oral regimen to prevent excessive withdrawal ICD9
– Uterine polyps, submucosal myomas bleeding. r 626.2 Excessive or frequent menstruation
– Hemangioma, arteriovenous malformation – Iron supplementation r 626.4 Irregular menstrual cycle
– Dilation and curettage rarely necessary, although r 626.6 Metrorrhagia
ALERT may be needed if hormonal therapy fails D
Pitfalls: r Possible side effects: ICD10
r Neglecting to perform pregnancy testing in an – Estrogen, given in high doses, will cause nausea r N92.0 Excessive and frequent menstruation with
adolescent who denies sexual activity and/or vomiting. An appropriate antiemetic should regular cycle
r Neglecting to reassess hemoglobin concentration be used for prophylaxis against these symptoms. r N93.8 Other specified abnormal uterine and vaginal
after volume expansion – High-dose estrogen may have vascular side effects bleeding
r Neglecting to consider a retained foreign body and should be used with caution in patients r N93.9 Abnormal uterine and vaginal bleeding,
particularly at risk for vascular events (e.g., unspecified
(e.g., tampon)
r Neglecting to provide both estrogen and patients with a history of lupus, stroke, or
thrombotic phenomena; and those who smoke
progesterone in a timely fashion
r If there is a recurrent course of DUB, consider
cigarettes). In these cases, consult a gynecologist FAQ
or adolescent medicine specialist for an
PCOS, thyroid disease, or other endocrinopathy. alternative progesterone-only therapy. r Q: If most girls have anovulatory cycles, why do only
some present with DUB?
IN-PATIENT CONSIDERATIONS r A: Most girls do have an irregular menstrual cycle
Initial Stabilization
TREATMENT If DUB is attributed to anovulatory cycles, or if a
during the first 2 years after menarche. However, in
most of those girls, the negative-feedback system of
ADDITIONAL TREATMENT complete workup fails to yield a diagnosis, treatment estrogen will lead to cyclic endometrial shedding in
is guided by the severity of DUB and the presence of an anovulatory pattern.
General Measures active bleeding.
r For mild DUB (inconvenient, unpredictable bleeding, r Q: If DUB from anovulatory cycles is caused by lack
and the patient has a normal hemoglobin in setting of progesterone, why does the initial treatment of
of hemodynamic stability): ONGOING CARE severe DUB with active bleeding involve large doses
– Reassurance until ovulatory cycles resume. of estrogen?
Encourage maintenance of a menstrual calendar, FOLLOW-UP RECOMMENDATIONS r A: Estrogen has procoagulation effects that promote
with follow-up in 3–6 months. Patient Monitoring hemostasis (e.g., effects on platelet aggregation and
– Iron supplementation When to expect improvement: levels of fibrinogen and clotting factors). In addition,
– If inconvenience and anxiety are unresponsive to r Bleeding usually tapers after the first few doses of severe DUB may lead to an exposed endometrial
reassurance, hormonal therapy with a daily hormone therapy. base that bleeds profusely; for progesterone to
combined oral contraceptive pill (OCP), 1 tablet r After 6–12 months, if patient does not wish to exhibit its secretory effects, the endometrium in that
daily, should be considered to regulate menstrual remain on OCPs, a trial off medication might reveal area must be restored by estrogen.
cycle. If estrogen is contraindicated, may use r Q: When hormonal therapy fails, and the basal
normal ovulatory cycles.
progesterone-only pill, medroxyprogesterone endometrium continues to bleed, how does a
acetate 10 mg/d PO for 10–14 days every month. PROGNOSIS dilation and curettage act as the final treatment?
r For moderate DUB (irregular, prolonged, heavy DUB persists for 2 years in 60% of patients, 4 years in r A: The curettage removes any remaining bleeding
bleeding with a hemoglobin >10 g/dL): 50%, and up to 10 years in 30%. vessels and stimulates local prostaglandins to create
– Hormonal therapy, as described previously. May COMPLICATIONS a uterine contracture that inhibits bleeding. This is
start OCP containing 35 μg of ethinyl estradiol Mild-to-severe anemia resulting from blood loss rarely needed in adolescent patients, as they usually
twice a day until bleeding stops, then taper to respond to hormonal therapy.
once a day.
– Menstrual calendar with follow-up every ADDITIONAL READING
1–3 months r Casablanca Y. Management of dysfunctional uterine
r For severe DUB (i.e., heavy, prolonged bleeding with
bleeding. Obstet Gynecol Clin N Am. 2008;35:
a hemoglobin <10 g/dL), treatment depends on the
219–234.
presence of active bleeding: r LaCour DE, Long DN, Perlman SE. Dysfunctional
– If no active bleeding, hemodynamically stable
patients can be started on daily OCPs and iron uterine bleeding in adolescent females associated
supplementation, with follow-up in 1–2 months. with endocrine causes and medical conditions.
– In the presence of active bleeding: Hormonal J Pediatr Adolesc Gynecol. 2010;23:62–70.
therapy, using combined OCP containing higher
dose of estrogen (50 mg ethinyl estradiol)—1 pill
q.i.d. until bleeding stops, followed by pill taper
(q.i.d. for 4 days, t.i.d. for 3 days, b.i.d. for 2
weeks, then 1 pill daily); switch to lower-dose pill

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DYSMENORRHEA
Esther K. Chung
Marney Gundlach (5th edition)

r Women may have increased uterine basal tone, PHYSICAL EXAM

BASICS elevated pressures during contractions, increased r Abdominal exam:
frequency of contractions, and uncoordinated – Lower abdomen/suprapubic pain
DESCRIPTION contractions. Any combination of these may lead to – Periumbilical pain suggests a GI, not a GYN,
Painful menses, usually presenting as cramping pain in poor reperfusion and oxygenation, leading to pain. source.
the lower abdomen or back: – Enlarged uterus can be palpated in vaginal outlet
r Primary dysmenorrhea—in absence of any obstruction.
hormonal or pelvic disease DIAGNOSIS r Inspection of external genitalia
r Secondary dysmenorrhea—due to hormonal or r Primary dysmenorrhea: Painful, often spasmodic r Imperforate hymen/hematocolpos
pelvic disease, most commonly endometriosis r Pelvic exam:
cramps in the lower abdomen or back, of varying
EPIDEMIOLOGY severity, starting hours to a few days prior to menses – Typically normal in primary dysmenorrhea; may
r Primary dysmenorrhea lasting up to 2–3 days after the start of menses. have mild diffuse uterine tenderness
– Typically begins in adolescence; prevalence rates Pain is strongest in intensity initially, waning by the – Consider deferring in younger girls with mild,
decrease progressively after age 24 years. end of menses. Referred pain to lower back or classic symptoms and normal external genitalia
– Less common in the first 2–3 years following thighs may occur. who have never been sexually active
menarche; more prevalent in mid- to r Secondary dysmenorrhea: May present with similar – Perform in women with history suggesting
late-adolescence when cycles are ovulatory. pain and symptoms but starts 1–2 weeks earlier in secondary dysmenorrhea, a history of sexual
r Secondary dysmenorrhea is less common in the cycle, and often lasts through the entire menses. intercourse, and those who need a Pap smear, or
who have failed NSAIDs
adolescence, and more common in adults. HISTORY
Prevalence r Given the high prevalence, screen all adolescent DIAGNOSTIC TESTS & INTERPRETATION
r Affects up to 90% of adolescents r Lab studies are generally not warranted.
females for dysmenorrhea; <15% will seek medical r Consider testing for STIs, pregnancy, PID, or
r 15% of adolescents report that the pain is “severe” attention.
r Pain: Ask about quality and intensity of pain (use inflammatory bowel disease (IBD) as indicated by
RISK FACTORS history and physical exam.
r Young age (<20 years) pain scales); constant or intermittent occurrence;
r Family history of dysmenorrhea location; onset, timing, and duration; aggravating or Imaging
alleviating factors; extent to which the pain limits r Consider ultrasound (US) for patients who fail a trial
r Early menarche
activities (social, school, sports, work). of NSAIDs. US can rule out genital tract
r Menorrhagia (heavy menstrual flow) r Menstrual: abnormalities, ovarian pathologies, or obstructive
r Nulliparity lesions.
– Age at menarche: More common in girls with
r Smoking earlier menarche (more time to progress to r Transvaginal US provides better images of pelvic
r Long menstrual periods ovulatory cycles) anatomy:
r Alcohol use – Menstrual flow: More common in women with – Discuss the expectations, especially with teens
r Depression heavy menstrual flow (menorrhagia) who have never been sexually active or ever used
r Anxiety – Last menstrual period (and previous one, if known) tampons.
– Length of menstrual flow and total cycles Diagnostic Procedures/Other
Genetics – Cycle regularity
r Dysmenorrhea is more common in patients with a Consider laparoscopy to establish the diagnosis for
– Amount of menstrual flow patients with adnexal or cul-de-sac pelvic tenderness,
positive family history. r Sexual history: Parity, current sexual activity,
r Certain polymorphisms are associated with higher first-degree relative with endometriosis, persistent
contraception, and history of STDs or pelvic pain despite treatment with NSAIDs and OCPs,
rates of dysmenorrhea. inflammatory disease (PID). Adhesions may cause significant disability due to pain, or plans for another
PATHOPHYSIOLOGY painful menses. surgical procedure
r Ovulation leads to increased progesterone release in r Associated symptoms: Missing school; nausea,
vomiting, diarrhea, headache, irritability, fatigue, DIFFERENTIAL DIAGNOSIS
the second half of the menstrual cycle. Progesterone
breast tenderness, dizziness, weakness, or bloating Primary dysmenorrhea is a diagnosis of exclusion;
levels fall prior to menstruation, increasing
r History of sexual, physical, or emotional abuse secondary dysmenorrhea should be ruled out based on
prostaglandin (PG) synthesis.
r Family history of GYN diseases, including history and physical exam, and imaging if warranted.
– After menarche, anovulatory cycles are common; r Genital: Adenomyosis, congenital vaginal or uterine
dysmenorrhea is typically absent in the first few dysmenorrhea, GYN or breast cancer, and
cycles. complications with oral contraceptive pills (OCPs) anomalies, ectopic pregnancy, endometriosis,
r Endometrial PGs cause uterine contractions, including deep vein thrombosis (DVT), stroke, or Mittelschmerz, ovarian cysts or tumors, pelvic
increased uterine muscle tone, and blood vessel myocardial infarction adhesions, PID, uterine adhesions, fibroids, or polyps
r Medications (including OCPs) including name, dose, r GI: Constipation, diverticulitis, IBD, irritable bowel
constriction, resulting in hypoxia, ischemia, and
pain. when taken in relation to pain, if scheduled or taken syndrome (IBS)
r Urologic: Interstitial cystitis, kidney stones, urinary
– PGF2alpha is thought to stimulate the myometrium as needed, perceived effectiveness
and cause vasoconstriction. Severity of r Diet: Higher intake of polyunsaturated fatty acids tract infection
dysmenorrhea is directly proportional to r Neurologic: Fibromyalgia, herniated disk, lower back
correlates with increased menstrual pain.
endometrial PGF2alpha concentrations. pain
– PGs can stimulate the GI tract, causing nausea, ALERT
diarrhea, and vomiting. r Pain that started at menarche is not likely primary
r Leukotrienes are thought to increase uterine pain dysmenorrhea, as most girls are still having
fiber sensitivity, vasoconstriction, and cause uterine anovulatory cycles.
hypercontractility. Leukotrienes are elevated among r Progressively worsening pain with each
women with dysmenorrhea. subsequent cycle may indicate endometriosis.
r Vasopressin, also elevated among women with r Cigarette smoking may increase the duration of
dysmenorrhea, may play a secondary role by dysmenorrhea.
potentiating uterine contractions and ischemic pain.

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DYSMENORRHEA

COMPLEMENTARY & ALTERNATIVE PROGNOSIS

TREATMENT THERAPIES
r Stronger evidence exists for:
Improvement in symptoms may occur after child birth.
COMPLICATIONS
MEDICATION (DRUGS) – Vitamin B1:
Missed school or work; decreased academic
First Line ◦ Vitamin B1 deficiency can cause muscle cramps,
r NSAIDs: PG synthetase (cyclo-oxygenase) inhibitors. performance, sports participation, and peer
fatigue, and decreased pain tolerance.
◦ 100 mg/d PO shown in a single large RCT to be socialization
In randomized controlled trials (RCTs), NSAIDs are
superior to placebo at relieving pain and reducing effective at reducing pain
activity restrictions and school/work absenteeism. – Magnesium: ADDITIONAL READING
Ibuprofen, naproxen sodium, and mefenamic acid ◦ Thought to inhibit synthesis of PGF2alpha ,
r Adams Hillard PJ. Consultation with the specialist:
are considered to be effective. promote vasodilation and muscle relaxation
r If a patient fails to respond to the first choice at a ◦ May reduce pain and need for additional Dysmenorrhea. Pediatr Rev. 2006;27:64–71.
r Dawood MY. Primary dysmenorrhea: Advances in
therapeutic level, try a different NSAID. medication
r 90% of patients have relief with proper dosing. ◦ No consistent dose used in studies; consider pathogenesis and management. Obstet Gynecol.
r Most effective when used on a regular and not PRN 500 mg/d PO 2006;108:428–441.
r Harel Z. Dysmenorrhea in adolescents. Ann N Y
D
– Transcutaneous electrical nerve stimulation
basis for the first 2–3 days of menses Acad Sci. 2008;1135:185–195.
r Start 1 day prior or at the onset of menses (TENS): Electrodes on the skin stimulate nerves at
different current frequencies and intensities. r Mannix LK. Menstrual-related pain conditions:
r Choices:
Thought to alter pain perception, rather than to Dysmenorrhea and migraine. J Women Health.
– Ibuprofen: 400–600 mg PO q6–8h directly affect uterine contractions. 2008;17:879–891.
– Naproxen: 500 mg PO then 250 mg PO q6–8h ◦ High-frequency TENS (low-intensity pulses at a r Marjoribanks J, Proctor ML, Farquhar C.
– Mefenamic acid: 500 mg PO then 250 mg PO frequency of 50–120 Hz): Effective at pain relief Nonsteroidal anti-inflammatory drugs for primary
t.i.d.; approved for children ≥14 years compared to placebo (but not at reducing need dysmenorrhoea. Cochrane Database Syst Rev.
r Side effects:
for analgesics); not superior to ibuprofen. 2003;4:CD001751.
– Black-box warnings: Increased risk of adverse ◦ Low-frequency TENS is no more effective than r Proctor ML, Murphy PA. Herbal and dietary
cardiovascular events, including myocardial placebo. therapies for primary and secondary dysmenorrhoea.
infarction, stroke, and new onset or worsening of ◦ Side effects: Headaches, muscle twitches, and Cochrane Database Syst Rev. 2001;2:CD002124.
pre-existing hypertension; increased risk of GI localized redness, burning, or pain r Proctor ML, Roberts H, Farquhar CM. Combined oral
irritation, ulceration, bleeding, and perforation r According to a recent Cochrane review, acupuncture
contraceptive pill (OCP) as treatment for primary
– Other side effects include drowsiness, dizziness, may reduce pain in primary dysmenorrhea. dysmenorrhoea. Cochrane Database Syst Rev.
headache, mouth dryness, nausea, and r Exercise may help to reduce symptoms of
2001;2:CD002120.
indigestion. dysmenorrhea but more research is needed. r Smith CA, Zhu X, He L, et al. Acupuncture for
Second Line r Weaker evidence exists for Vitamin B6, fish oil, and
r OCPs: primary dysmenorrheal. Cochrane Database Syst
vitamin E. No evidence exists for spinal Rev. 2011;1:CD007854.
– OCPs suppress ovulation and decrease uterine PG manipulation, biofeedback, black cohosh, fennel oil,
secretion following reduction in progesterone or evening primrose oil.
levels. CODES
– OCPs with medium-dose estrogen (∼35 mcg) and SURGERY/OTHER PROCEDURES
first- or second-generation progestogens Laparoscopy may be used as treatment for primary
(levonorgestrel, norethisterone, norgestrel) are dysmenorrhea: ICD9
r Laparoscopic uterine nerve ablation (LUNA) is 625.3 Dysmenorrhea
more effective than placebo at pain relief and
reducing school/work absenteeism. There are few effective for long-term (≥12 month) pain relief in ICD10
studies on lower dose estrogen and newer primary dysmenorrhea. r N94.4 Primary dysmenorrhea
progestin formulations. r Laparoscopic presacral neurectomy is more effective r N94.5 Secondary dysmenorrhea
– Patients may need 3 months to see improvement. than LUNA for pain relief at ≥6 months follow-up r N94.6 Dysmenorrhea, unspecified
Patients with improvement are more likely to be but has significant side effects (especially
compliant with OCPs. constipation); should only be performed with pelvic
– Good choice for patients who fail NSAIDs as laparoscopic surgeons with special training. FAQ
monotherapy, desire pregnancy prevention, or
who have acne ALERT r Q: What percentage of patients report
– Extended cycling OCPs: Can prescribe Seasonale There are a number of OTC medicines that are dysmenorrhea?
(91-day cycle) or use multiple OCP packs to marketed for treating cramps in women. Only those r A: Although dysmenorrhea affects up to 90% of
achieve same effect formulations that contain NSAIDs are effective in adolescents, <15% will seek medical care. It is
– Side effects: treating dysmenorrhea. Encourage patients to read important to screen all adolescent women for
◦ Nausea, vomiting, breast tenderness, weight labels looking for medications containing ibuprofen dysmenorrhea. Barriers for seeking physician advice
gain, break-through menstrual bleeding, or naproxen. include fears of pelvic exam, lack of knowledge of
headaches from the estrogen effective treatments, and confidence in home
◦ Acne, hirsutism, and depression from the remedies.
progestogen ONGOING CARE
◦ Rare: DVT, stroke, myocardial infarction
r Secondary dysmenorrhea is treated by addressing PATIENT EDUCATION
r Stress to patients the importance of keeping a pain
the underlying cause.
diary indicating days of menses, days of pain, pain
ISSUES FOR REFERRAL ratings (0–10 scale), days of limited activities (school
Consider referral to adolescent gynecologist for or work) due to pain, and associated symptoms.
consideration of laparoscopy or management of r Websites for Patient Education Materials:
endometriosis, including gonadotropin-releasing
– ACOG. Dysmenorrhea. http://www.acog.org/∼/
hormone (GnRH) agonist treatment
media/For%20Patients/faq046.pdf?dmc=1&ts=
20120215T1659240616
– ACOG. Chronic pelvic pain. http://www.acog.
org/∼/media/For%20Patients/faq099.pdf?dmc
=1&ts=20120215T1700537765

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DYSPNEA
Charles Schwartz

r Renal r Question: Any fever, cough, chest pain, or runny

BASICS – Renal failure causing fluid overload nose?
– Metabolic acidosis r Significance: Suggests an infectious cause. Chest
DEFINITION r Hematologic pain could be related to a pneumothorax, which
Shortness of breath. A subjective feeling of having – Anemia may occur spontaneously in some individuals.
difficulty breathing. – Sickle cell crisis/acute chest syndrome r Question: Anyone at home who is sick or has
r Muscle weakness respiratory problems/illness?
– Duchenne muscular dystrophy r Significance: Leads toward infection; however, in
DIAGNOSIS – Spinal muscle atrophy some cases of congenital heart disease, a respiratory
DIFFERENTIAL DIAGNOSIS r Miscellaneous virus such as respiratory syncytial virus can make an
r Congenital – High altitude otherwise stable patient into a critically ill child.
– Subglottic stenosis – Exercise r Question: Children who have a history of wheezing
– Vocal cord paralysis – Psychogenic hyperventilation or asthma?
– Macroglossia – Anxiety/panic disorders r Significance: Likely to re-exacerbate their lung
– Pierre Robin sequence disease
– Laryngeal atresia ALERT r Question: Children who have been hospitalized for
– Pulmonary sequestration In a child who presents with dyspnea, anxiety or
respiratory problems in the past?
– Pulmonary hypoplasia panic disorder should be considered only after the r Significance: Likely to have subsequent difficulty
r Infectious more serious causes have been ruled out.
with other respiratory problems
– Lower airway: Bronchiolitis, pertussis, pneumonia, r Question: Has the patient ever been diagnosed
tuberculosis APPROACH TO THE PATIENT with a murmur or has a history of cardiac problems?
– Upper airway: Croup, epiglottitis, tracheitis, General goal is to identify the organ system r Significance: In the absence of an infectious type or
peritonsillar abscess responsible for the dyspnea and to determine whether
r Toxic, environmental, drugs: Aspiration the process is acute or chronic: wheezing type of history, it may help the examiner
r Phase 1: Determine if the cause is respiratory or focus on the cardiac exam.
– Fluid
– Foreign body cardiac in nature. If it is 1 of these 2, is the patient PHYSICAL EXAM
– Carbon monoxide poisoning clinically stable and can he or she protect his or her Lungs
– Methemoglobinemia airway? It is important to identify those who will r Finding: Crackles or rhonchi on auscultation?
– Smoke inhalation need intensive/emergency care and those who can r Significance: Lower lung disease such as pneumonia
r Tumors/cysts be worked up in the office. or bronchiolitis. Fluid overload may cause bilateral
– Head/neck: Dermoid cysts, branchial cleft cysts, r Phase 2: Inquire about the duration of symptoms crackles.
lingual thyroid, hemangioma, teratoma, and the circumstances around the onset of the r Finding: Wheezing on auscultation?
papilloma, brainstem tumor dyspnea. History and physical exam should focus on r Significance: Usually heard on expiration; suggests
– Thoracic: Teratoma, cystic hygroma, bronchogenic respiratory and cardiology. If these 2 have been an obstructive lung disease such as asthma or
cyst, pericardial cyst, neurogenic tumor, ruled out, other causes must be evaluated. reactive airways disease, or anaphylaxis.
lymphoma, leukemia r Phase 3: Inquire about other medical problems of r Finding: Distant or absent breath sounds?
– Abdominal mass: Hepatic mass, hepatoblastoma, the patient. r Significance: Foreign body aspiration blocking air
neuroblastoma
r Allergy: Anaphylaxis HISTORY movement. Pneumothorax should also be suspected.
r Question: Onset of dyspnea and what the patient r Finding: Barking cough?
r Pulmonary
was doing at the time of onset (if acute)? r Significance: Croup is usually cased by parainfluenza
– Asthma r Significance: virus.
– Atelectasis r Finding: Symptoms worse in supine position?
– In a small child, acute onset may be related to
– Pneumothorax r Significance: May be secondary to pulmonary edema
aspiration of a foreign body or liquid.
– Pleural effusion
– If the patient was unsupervised, foreign body is a or compression by a mediastinal mass.
– Hemorrhage
high probability. r Finding: Egophony on auscultation?
– Embolism
r Cardiac – If the dyspnea occurred over days, other r Significance: Suspect pleural effusion
respiratory, cardiac, or renal causes should be
– Pulmonary edema suspected.

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DYSPNEA

Heart r McIntosh K. Community-acquired pneumonia in

r Finding: Loud murmur or gallop on auscultation? TREATMENT children. N Engl J Med. 2002;346(6):429–437.
r Significance: Cardiac disease in which pulmonary r Rocha G. Pleural effusions in the neonate. Curr Opin
edema may be cause of the dyspnea ADDITIONAL TREATMENT Pulm Med. 2007;13(4):305–311.
r Finding: Cyanosis? General Measures r Segal GB. Anemia. Pediatr Rev. 1988;10:77–88.
r Significance: Poor oxygen perfusion If hyperventilation is suspected, having the patient r Skolnick H. Exercise-induced dyspnea in children
r Finding: Low BP and poor skin perfusion? breathe into a brown paper bag can be useful in and adolescents: If not asthma then what?
r Significance: The patient may be in shock. Quick breaking the cycle of hypocarbia. Pediatrics. 2006;118:S35–S36.
r Tan Q, Mason EO, Wald ER, et al. Clinical
identification of the type of shock is needed to ISSUES FOR REFERRAL
correct the underlying problem. r Unstable vital signs, inability to oxygenate, and need characteristics of children with complicated
r Finding: Clubbing of the digits? for critical care services pneumonia caused by streptococcus pneumoniae.
r Significance: Suggests chronic disease such as cystic r Suspected foreign body aspiration; needs a surgical Pediatrics. 2002;110:1–6.
fibrosis or cardiac disease consultation for bronchoscopy
r Finding: Drooling with mouth open in an r If asthma is suspected, use criteria in the chapter on
CODES
D
ill-appearing child? asthma.
r Significance: Suggests epiglottitis and need for r Patients with epiglottitis need an otolaryngologist to
evaluate the patient under general anesthesia (see ICD9
careful evaluation (see “Epiglottitis”) r 478.5 Other diseases of vocal cords
r Finding: Abdominal mass palpated? “Epiglottitis”).
r Suspected oncologic process: Referral to a tertiary r 748.3 Other anomalies of larynx, trachea, and
r Significance: May cause compression of lungs
r Finding: Ascites or edema? care center with a critical care unit staffed by a bronchus
r 786.09 Other respiratory abnormalities
r Significance: Fluid overload from either renal or pediatric oncologist (see “Leukemia”)
cardiac cause. SURGERY/OTHER PROCEDURES ICD10
Patients with pneumothorax may need surgical r J38.00 Paralysis of vocal cords and larynx,
DIAGNOSTIC TESTS & INTERPRETATION
r Test: Arterial blood gases aspiration or chest tube placement. unspecified
r Q31.1 Congenital subglottic stenosis
r Significance: Initial Stabilization
r R06.00 Dyspnea, unspecified
– More detailed assessment of oxygenation and Anaphylaxis is a medical emergency and mandates
acidosis immediate action. Epinephrine, Benadryl, and possibly
– Delineates metabolic vs. respiratory acidosis steroids are the drugs of choice for treatment.
– May show if compensation has occurred FAQ
r Test: CBC with differential r Q: In most cases, is dyspnea pulmonary in nature?
r Significance: ADDITIONAL READING r A: Yes, it is in most cases. However, if infectious,
– Elevated WBC count with a left shift differential r Adinoff A. Obesity is a risk factor for dyspnea but foreign body, and asthma causes are ruled out,
may be a sign of infection. not for airflow obstruction. Pediatrics. 2003;112: nonrespiratory causes must be investigated.
– If the patient has pallor, evaluate the hemoglobin 473–474.
to see if the patient is anemic. r Denny FW. Acute respiratory infections in children:
– May be helpful in patients in whom leukemia or Etiology and epidemiology. Pediatr Rev.
other oncologic diseases are suspected 1987;9:135–146.
r Test: Mantoux test with purified protein derivative r Gaston B. Pneumonia. Pediatr Rev. 2002;23:
r Significance: Include with anergy panel for patients
132–140.
with family history of tuberculosis or who are r Holroyd HJ. Foreign body aspiration: Potential cause
immigrants from countries where tuberculosis is of coughing and wheezing. Pediatr Rev. 1988;
prevalent 10:59–63.
r Test: Pulse oximetry r Lasley M. New treatments for asthma. Pediatr Rev.
r Significance: Rapid assessment of oxygen perfusion
2003;24:222–232.
r McIntosh K. Respiratory syncytial virus infections in
Imaging
Chest radiograph infants and children: Diagnosis and treatment.
r Look for appearance of the lung fields for the Pediatr Rev. 1987;9:191–196.
different types of pneumonia
r Evaluate heart size and pulmonary vascularity for
fluid overload
r Hyperinflation suggests an obstructive pulmonary
disease such as asthma. A hyperinflated (usually
right lobe), darkened lobe is suspicious for foreign
body.
r A shift in the heart and presence of a lung edge are
common in pneumothorax or effusion.
r Fluid in the costophrenic angle suggests an effusion.

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Rebecca Ruebner
Lawrence Copelovitch

r Allergic/inflammatory r Question: Do you use bubble bath?

BASICS – Food allergy r Significance: Bubble bath may deplete the protective
– Stevens–Johnson syndrome lipids in the urethra.
DEFINITION – Contact dermatitis, e.g., poison ivy r Question: Any signs of bleeding?
Painful urination r Functional r Significance: May indicate trauma, infection, or
– Attention mechanism congenital anomalies. Calcium excretion may cause
r Miscellaneous
DIAGNOSIS dysuria as well as hematuria.
– Appendicitis r Use of spermicides or douches
DIFFERENTIAL DIAGNOSIS r Family history of kidney stones
r Congenital/anatomic APPROACH TO THE PATIENT
General goal: Determine the cause and begin r Question: Fever?
– Meatal stenosis r Significance: Fever is a common sign of urinary tract
treatment.
– Urethral stricture r Phase 1: Rule out common causes such as trauma,
– Posterior urethral diverticula infection (UTI).
infection, chemical irritant, constipation, and r Question: Frequency?
– Urethral stones
masturbation. r Significance: Both frequency and dysuria are
– Vesicovaginal fistula
r Infectious r Phase 2: Continue investigation—look for common findings in UTIs.
congenital or acquired problems that cause r Question: Past history of urologic operations?
– Viral infection
– Gonorrhea infection, strictures, or calculi. r Significance: Antireflux surgery may have a side
r Phase 3: Begin treatment. effect of dysuria.
– Chlamydia
– Herpes simplex Hints for Screening Problems r Question: What have you taken for discomfort?
– Tuberculosis r Ask about medications and food allergies. r Significance: Although cranberry juice is used for
– Cystitis r Ask about special situations, e.g., sand in bathing many urinary problems, the volume needed is
– Candidiasis suit causing irritation. usually more than what can be easily ingested.
– Urethritis r Question: Quality and strength of the urinary
– Pinworms HISTORY stream?
– Prostatitis r Question: Do the symptoms occur any special time r Significance: Patients with posterior urethral valves
r Toxic, environmental, drugs of day?
r Significance: May indicate an attention mechanism have small, frequent voidings, with low pressure
– Bubble bath urethritis because of the obstruction in the posterior urethra.
– Spermicides, douches if occurs before school r Question: Sexual activity?
– Cytoxan r Question: What kinds of medication do you take? r Significance: Urethritis from gonorrhea or chlamydia
r Trauma r Significance: Some medications, e.g., Cytoxan, may
– Diaper dermatitis cause irritation of the urethra. PHYSICAL EXAM
r Question: Have there been any new foods or r Finding: Any signs of redness or ecchymoses?
– Foreign body
– Bicycle injury r Significance: May indicate trauma from
known food allergens?
– Masturbation r Significance: Milk and citrus fruits may cause dysuria masturbation or abuse
– Sexual abuse r Finding: Any bleeding?
in certain patients. Best to determine whether
– Irritation, e.g., from sand, tight pants symptoms regress on elimination of possible r Significance: Seen in trauma, tumors, and infection
r Tumor offending food.
– Sarcoma botryoides
r Genetic/metabolic
– Cystinuria

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r Finding: Any change in behavior? ISSUES FOR REFERRAL

r Evidence of congenital anomaly
FAQ
r Significance: May be an attention-seeking device
r Finding: Abnormal swelling? r Increasing severity of symptoms r Q: How does bubble bath cause dysuria?
r Significance: May occur in trauma or rare tumors r Failure to respond to symptomatic or specific r A: The bubble bath depletes lipids that protect the
r Finding: Abnormal urethra? treatment urethra, causing the tissue to swell and become
r Significance: Prolapsed urethra or diverticula inflamed.
r Q: Can allergies cause dysuria?
r Finding: Grapelike structures in vagina?
r Significance: Sarcoma botryoides ADDITIONAL READING r A: It is difficult to directly prove allergies as a cause
r Finding: Abdominal pain? r Claudius H. Dysuria in adolescents. West J Med. of dysuria. However, in some cases, elimination of
certain foods such as spices, citrus fruits, or known
r Significance: Intra-abdominal abscess or low-lying 2000;172:201–205.
r Hellerstein S, Linebarger JS. Voiding dysfunction in skin allergens has improved symptoms.
inflamed appendix may cause dysuria. r Q: How do children get infected with gonorrhoea?
pediatric patients. Clin Pediatr (Phila). 2003;42: r A: This is a red flag for sexual abuse, which must be
DIAGNOSTIC TESTS & INTERPRETATION 43–49.
Lab
r Test: Urinalysis
r Lee HJ, Pyo JW, Choi EH, et al. Isolation of investigated.
r Q: Which viruses cause dysuria? D
adenovirus type from the urine of children with r A: Adenovirus has been identified.
r Significance: In most UTIs, there are WBCs in the
acute hemorrhagic cystitis. Pediatr Infect Dis J.
urine. 1996;15:633–634.
r Test: Urine culture r Rushton HG. Urinary tract infections in children:
r Significance: Check for infection CLINICAL PEARLS
Epidemiology, evaluation, and management. Pediatr
r Test: Metabolic screens Clin North Am. 1997;44:1133–1169. r Sometimes difficult to differentiate dysuria from
r Significance: If sediment shows crystals or if familial frequency, which may cause an uncomfortable
history of metabolic disease feeling or pressure that is described by the child as
r Test: Urinary screen for gonorrhea and chlamydia CODES pain.
r Significance: DNA amplification by polymerase or r Discharge with dysuria suggests gonococcal or
ligase chain reaction on freshly voided urine has ICD9 chlamydial infection.
95% sensitivity and 100% specificity. r 598.9 Urethral stricture, unspecified r Low-lying inflamed appendix may cause bladder
r 753.6 Atresia and stenosis of urethra and bladder irritation and dysuria.
Imaging r Urethral prolapse may present as hematuria or
Ultrasound: Not routinely requested unless a neck
r 788.1 Dysuria frequency.
congenital anomaly is suspected
ICD10
r N35.9 Urethral stricture, unspecified
TREATMENT r Q64.39 Other atresia and stenosis of urethra and
ADDITIONAL TREATMENT bladder neck
r R30.0 Dysuria
General Measures
r See treatment of UTI, vaginitis, urethritis
r Phenazopyridine (Pyridium) may be used for
symptomatic relief while documenting cause of
dysuria.
r Warm water sitz baths may be helpful for
symptomatic treatment.

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