PBL - 4

Group B2
1. Rheumatic
Fever
● Acute rheumatic fever is an autoimmune inflammatory disease that occurs
as a delayed complication of Group A β-hemolytic Streptococcal infection
of the pharynx.
● Common in children with 5-15 years old

● Pathophysiology :
○ Initial Streptococcal infection
○ Molecular mimicry - antibodies and T cells cross react with host
tissues(a form of autoimmune response)
○ Immune mediated inflammation
○ Chronic sequelae- rheumatic
heart disease
Clinical features
● The infection often precedes the
presentation of rheumatic fever by
2-6 weeks
● ARF is diagnosed using clinical and
lab findings of the revised Jones
criteria.
● The presence of either 2 major
criteria or 1 major and 2 minor
criteria, along with evidence of
antecedent streptococcal infection,
confirms the diagnosis of ARF.
Subcutaneous nodules Erythema marginatum
Short-Term Complication
COMPLICATIONS
1. Congestive Heart Failure (CHF)
● Cause: Usually due to valvular dilation (not pump failure).
● Context: Occurs in the acute phase of fulminant carditis.
● Management:
○ May require surgical valve repair or replacement if medical therapy fails.

Long-Term Complications

Rheumatic Heart Disease (RHD)

1. Chronic valvular damage is the key consequence.

2. Most commonly affected valve:
● Mitral valve
○ Mitral regurgitation (MR): Most common; progresses over 5–10 years.
○ Mitral stenosis (MS): Develops 20–40 years later; can occur earlier in certain populations.
3. Less common involvement:
○ Aortic regurgitation (AR) and aortic stenosis (AS).
4. Multivalvular involvement is possible.
 INVESTIGATIONS
1. Throat Culture
a. Gold standard to confirm recent group A streptococcal 6. Echocardiography
(GAS) pharyngitis. ● Essential for detecting carditis, including
2. Blood Cultures subclinical cases. It can reveal valvular
a. To rule out infective endocarditis, bacteremia, or regurgitation or stenosis, particularly of the
disseminated gonococcal infection. mitral and aortic valves.
3. Antistreptococcal Antibody Titers 7. Chest Radiography
a. Common: Anti-streptolysin O (ASO) and Anti-DNase B. ● May show cardiomegaly or signs of
b. Confirms recent GAS infection when throat culture is congestive heart failure in patients with
negative. carditis.
4. Acute Phase Reactants
a. Erythrocyte Sedimentation Rate (ESR)
b. C-Reactive Protein (CRP)
c. Elevated in active inflammation; useful for monitoring
disease activity.
5. Other Screening Tests
a. Rheumatoid factor (RF) – to exclude juvenile arthritis.
b. Antinuclear antibodies (ANA) – to rule out lupus.
c. Lyme serology – if clinically suspected.
d. Gonorrhea screen – in sexually active patients if indicated.
 MANAGEMENT
1. Bed rest
2. Anti-streptococcal therapy : IV Penicillin 50,000U/kg/dose 6H or Oral Penicillin V 250mg 6H ( < 30kg ),
500mg 6H (> 30kg ) for 10 days
a. Oral Erythromycin if allergic to penicillin
3. Anti-inflammatory therapy;
a. Mild/ no carditis: Oral aspirin 80-100mg/kg/day in 4 doses for 2-4 weeks tapering over 4 weeks
b. Pericarditis, or moderate to severe carditis: Oral prednisone 2mg/kg/day in 2 divided doses for 2-4
week
4. Secondary Prophylaxis
a. Long-term IM benzathine penicillin G every 3-4 weeks to prevent recurrence
b. Without carditis: 5 years or until 21 years of age.
c. With carditis but no RHD: 10 years or until 21
d. With RHD: Lifelong prophylaxis
 PREVENTION
1. Primary Prevention 2. Secondary Prevention (Prophylaxis)

Goal: Prevent the first episode of ARF by treating group Goal: Prevent recurrence of ARF and further cardiac damage in
A streptococcal (GAS) pharyngitis early. patients with a prior ARF diagnosis.

● Early antibiotic therapy for GAS pharyngitis: ● Indications:

○ Reduces ARF risk by 70–80%. ○ All patients with previous ARF.
○ Includes isolated Sydenham chorea or evidence of
○ Despite this, ~1/3 of ARF patients may
rheumatic heart disease.
have had subclinical pharyngitis. ● Antibiotic regimens:
● Household contact management: ○ First-line:
○ Some authorities recommend treating ■ Benzathine penicillin G IM every 3–4
asymptomatic GAS-positive contacts to weeks.
prevent transmission of rheumatogenic ■ Oral penicillin V twice daily.
○ Alternatives:
strains.
■ 1st-gen cephalosporins, macrolides,
clindamycin, or sulfadiazine.
● Duration depends on:
○ Age of patient.
○ Presence of carditis.
○ Residual valvular disease.
○ Regional rheumatic fever prevalence.
 2. Mitral
Regurtitation
Definition:
Mitral regurgitation is backflow of blood from left ventricle to left atrium during ventricular contraction; it is
caused by structural or functional mitral valve abnormalities and may lead to increased left atrial pressure, left
ventricular dilation and dysfunction, and left ventricular failure

Pathology:

- Loss of valve tissue, shortening & fibrosis of leaftlets

- Left ventricle enlarges, left atrium dilates with increased pressure as followed by pulmonary
edema & CHF
Etiology:

Primary mitral regurgitation

● Primary Mitral regurgitation is caused by degenerative or structural abnormalities of mitral valve components
● Most commonly caused by mitral valve prolapse; other causes include infectious endocarditis, rheumatic mitral valve
disease, radiation heart disease, and connective tissue diseases.

Secondary mitral regurgitation

● Also Most common cause of mitral regurgitation

● Secondary Mitral regurgitation is caused by left ventricular dysfunction associated with ischemia or other myocardial
disease.
● Mitral valve chords and leaflets are usually structurally normal, but loss of coaptation occurs owing to left ventricular
dilation and papillary muscle displacement.
● Subcategorized as ischemic (associated with coronary artery disease or post–myocardial infarction remodeling) or
nonischemic (associated with left ventricular dilation due to cardiomyopathy)

Acute mitral regurgitation

● Rare medical emergency requiring urgent intervention
● Sudden onset of symptomatic mitral regurgitation after rupture of papillary muscle or chordae tendineae or perforation of
valve leaflets
● May occur in context of infectious endocarditis or acute myocardial infarction
The Carpentier Classification divides mitral regurgitation into 3 types based on the leaflet motion:

● Type 1: Normal leaflet motion

○ Caused by annular dilation or leaflet perforation
○ Regurgitation jet directed centrally
● Type 2: Excessive leaflet motion
○ Caused by papillary muscle rupture, chordal rupture, or redundant chordae
○ Eccentric jet directed away from the involved leaflet
● Type 3: Restricted leaflet motion
○ IIIa: Leaflet motion restricted in both systole and diastole
■ Caused by rheumatic heart disease
■ Normal papillary muscles
■ Jet may be centrally or eccentrically directed
○ IIIb: Leaflet motion restricted in systole
■ Caused by papillary muscle dysfunction or left ventricular dilation
■ Abnormal papillary muscles
■ Jet may be centrally or eccentrically directed
Clinical features and physical examination
Clinical Features
• Dyspnea, especially on exertion
• Fatigue, poor feeding (infants)
• Palpitations
• Cough or frequent respiratory infections
• In severe cases: orthopnea, paroxysmal nocturnal dyspnea, failure to thrive

Physical exam findings :

1. Pulse : May be bounding if volume overload
2. Apex beat : Displaced, hyperdynamic (volume-loaded LV)
3. Heart sounds : Soft or absent S1, loud P2 if pulmonary hypertension
4. Murmur :
- Pansystolic murmur best heard at apex, radiates to axilla
- S3 gallop,Indicates LV volume overload
5. Signs of heart failure,Hepatomegaly, tachypnea, edema (in late/severe disease)
Investigations
Test Findings

ECG LA enlargement, LV hypertrophy (LVH), possible AF in older

children

Chest X-ray Cardiomegaly (LA & LV enlargement), pulmonary congestion

Echo ( gold standard ) shows MR jet, LA dilation, valve anatomy, LV function

Doppler study Confirms severity and regurgitant volume

Blood tests If rheumatic fever suspected : ASO titre ,ESR,CRP

Others Blood culture if IE suspected

Management
A. General Principles :
• Depends on severity and underlying cause
• Medical management for mild/moderate MR
• Surgical referral for severe MR or symptomatic patients

B. Medical Therapy :
1. Diuretics - Reduce pulmonary congestion, preload
2. ACE inhibitors - Afterload reduction, improve forward flow
3. Beta-blockers - May be used if LV dysfunction is present
4. Antibiotics - For infective endocarditis
5. Penicillin prophylaxis if rheumatic cause – monthly benzathine penicillin
C. Surgical/Interventional
Indications:
● Symptomatic MR
● Worsening LV function
● Severe MR on echo (even if asymptomatic)
Procedures:
● Mitral valve repair (preferred in children)
● Valve replacement if repair is not feasible (may need lifelong anticoagulation)

D. Follow-Up
1. Regular echocardiographic monitoring
2. Monitor growth, exercise tolerance, and signs of heart failure
3. Prophylaxis for infective endocarditis if indicated
3. Juvenile
Idiopathic
arthritis
 CLINICAL FEATURES
Definition: Juvenile idiopathic arthritis (JIA) is a diverse spectrum of chronic arthritides, involving arthritis of at least one joint for 6
or more wk in patients 15 yr of age or younger. Other causes of arthritis must be excluded.

SYMPTOMS
- Pain and stiffness in the joint that limit use, but refusing to bear weight on the joint is rare. (knee and extremities)
- Morning stiffness and gelling.
- Iridocyclitis or uveitis (human leukocyte antigens (HLAs; HLA-DR5, HLA-DR6, and HLA-DR8). The presence of a positive
antinuclear antibody.
*Regular ophthalmological screening with a slit-lamp examination to identify anterior chamber inflammation.

PHYSICAL EXAMINATION
- joint tenderness
- erythema and effusion
- limited joint range of motion (pain, swelling, or contractures from lack of use)
- bony abnormalities of the surrounding bone (presence of an active growth plate causing bony proliferation and localized growth
disturbance).
- leg length discrepancy if arthritis is asymmetric.

Marcdante, K. J., Kliegman, R., & Nelson, W. E. (2015). Nelson essentials of pediatrics. Elsevier/Saunders.
 PATHOPHYSIOLOGY OF JIA

The presence of chronic synovitis, or inflammation of the synovial lining of the joint. The synovial hypertrophy, edema, and
hypervascularity occurs with mixed inflammatory infiltrate of T and B lymphocytes, plasma cells, macrophages, and
dendritic cells is found in the synovial lining of affected joints. The inflammation leads to production and release of tissue
proteases and collagenases. Infiltrating mononuclear cells produce proinflammatory cytokines and chemokines that
contribute to bone and cartilage erosion and perpetuate recruitment of inflammatory cells. If left untreated, the
inflammation can lead to tissue destruction, particularly of the articular cartilage and underlying bony structures. SJIA is
uniquely characterized by significant innate immune activation, including increased production of the proinflammatory
cytokines interleukin-1 (IL-1) and 6 (IL-6).

Marcdante, K. J., Kliegman, R., & Nelson, W. E. (2015). Nelson essentials of pediatrics. Elsevier/Saunders.
ClinicalKey.com by Elsevier on May 04, 2025.
 CLINICAL FEATURES
Oligoarticular JIA

❏ Arthritis in fewer than five joints within 6 months of diagnosis

❏ Most common form (~50% of cases)
❏ Peak ages: 1–3 years and 8–12 years
❏ Affects medium-sized to large joints
❏ Knee is the most common joint, followed by ankle and wrist
❏ Unusual for small joints (fingers, toes) to be involved
❏ Neck, jaw, and hip involvement are uncommon
❏ No evidence of systemic inflammation (fever, weight loss, failure to thrive)
❏ No laboratory evidence of systemic inflammation (elevated WBC or ESR)
❏ Subset may develop polyarticular disease (extended oligoarthritis)

Marcdante, K. J., Kliegman, R., & Nelson, W. E. (2015). Nelson essentials of pediatrics. Elsevier/Saunders.
 CLINICAL FEATURES
Polyarticular JIA

❏ Arthritis in five or more joints within the first 6 months of diagnosis

❏ Accounts for about 40% of cases
❏ Symmetric arthritis
❏ Typically involves small joints of hands, feet, ankles, wrists, and knees
❏ Cervical spine can be involved (can lead to spine fusion over time)
❏ May present with systemic inflammation (malaise, low-grade fever, growth retardation, anemia of chronic disease,
elevated markers of inflammation)
❏ Can present at any age
❏ Peak in early childhood and adolescence
❏ Adolescents may have positive rheumatoid factor or anti-CCP antibody
❏ Adolescent cases may represent true adult rheumatoid arthritis in course and prognosis.

Marcdante, K. J., Kliegman, R., & Nelson, W. E. (2015). Nelson essentials of pediatrics. Elsevier/Saunders.
 CLINICAL FEATURES
Systemic JIA

❏ Small subgroup (~10% of cases)

❏ Onset with systemic inflammation rather than arthritis (autoinflammatory disease)
❏ Recurring, spiking fever (once or twice per day, lasting weeks to months)
❏ Rash: morbilliform and salmon-colored, evanescent and occur with fever, urticarial
❏ Internal organ involvement can occur
❏ Serositis (pleuritis and pericarditis) occurs in 50% of children
❏ Pericardial tamponade may rarely occur
❏ Hepatosplenomegaly occurs in 70% of children
❏ Children appear sick (malaise, failure to thrive)
❏ Labs: elevated ESR, CRP, WBC, platelet counts, and anemia
❏ Arthritis follows systemic inflammation by 6 weeks to 6 months
❏ Arthritis is typically polyarticular, extensive, and resistant to treatment
❏ Highest risk for long-term disability

Marcdante, K. J., Kliegman, R., & Nelson, W. E. (2015). Nelson essentials of pediatrics. Elsevier/Saunders.
 CLINICAL FEATURES
Spondyloarthropathies

❏ Group includes juvenile ankylosing spondylitis, psoriatic arthritis, and IBD-associated arthritis
❏ Involves axial skeleton, sacroiliac joints, and enthesitis (inflammation of tendinous insertions)
❏ Can present with peripheral arthritis
❏ May initially be classified in other subgroups
❏ Diagnosis becomes clear later with sacroiliac arthritis, psoriasis, or GI disease
❏ Frequently associated with HLA-B27
❏ May require earlier treatment with TNF blockers

Marcdante, K. J., Kliegman, R., & Nelson, W. E. (2015). Nelson essentials of pediatrics. Elsevier/Saunders.
 CLINICAL FEATURES

ClinicalKey. (2020). Clinicalkey.com; Elsevier. https://www.clinicalkey.com

 CLINICAL FEATURES

ClinicalKey. (2020). Clinicalkey.com; Elsevier. https://www.clinicalkey.com

Laboratory and Imaging Studies
- Most children with oligoarticular JIA have no laboratory abnormalities.
- Children with polyarticular and systemic disease show elevated acute phase reactants and anemia of chronic disease.
- Complete blood count should be done to rule out leukemia. All patients with polyarticular JIA should undergo
antinuclear-antibody test to identify those at a higher risk for uveitis.
- Older children and adolescents with polyarticular disease should also have rheumatoid factor and anti-CCP antibodies
performed to identify children with early-onset adult rheumatoid arthritis.
- Diagnostic arthrocentesis may be necessary for children with acute monoarticular symptoms to exclude suppurative
arthritis. The synovial fluid white blood cell count is typically less than 50000-100000/mm3, and predominantly
lymphocytes.
- In an X-ray, periarticular osteopenia is most commonly found overtime due to decreased mineralisation. Growth centers
may be slow to develop, whereas there may be accelerated maturation of growth plates and evidence of bony
proliferation. Erosions of bony articular surfaces maybe a late finding.

Nelson Essentials of Pediatrics Eighth Edition pg 351

Treatment
- Treatment of JIA focuses on suppressing inflammation, preserving and maximizing function, preventing deformity, and
preventing blindness.
- NSAIDS are the first choice in treatment of JIA. Naproxen, Sulindac, Indomethacin, Ibuprofen have been used
successfully.
- Systemic corticosteroids like prednisone and prednisolone should be avoided unless in extreme circumstances (inability
to ambulate/ internal organ impairment). They are used as bridging therapy until other medications take effect.
- Second line medications like hydroxychloroquine and sulfasalazine have been used in patients whose arthritis is not
completely controlled by NSAIDS alone.
- Methotrexate has become the drug of choice for polyarticular and systemic JIA. It is given orally or subcutaneously, and
can cause bone marrow suppression and hepatotoxicity without monitoring.
- Other agents like etanercept, infliximab, and adalimumab (TNF alpha inhibitors) and anakinra (interleukin 1 receptor
antagonist) have been found to be useful as well.

Nelson Essentials of Paediatrics Eighth Edition pg 352

 4. Avascular
Necrosis
(Legg-Calve’-Perthes
Disease)
Definition
Legg-Calvé-Perthes Disease is a childhood form of
avascular necrosis (AVN) of the femoral head, due to
interruption of blood supply to the capital femoral
epiphysis, leading to ischemic necrosis and eventual
deformity.
Pathophysiology

1) Ischemia of the femoral epiphysis due to interruption of blood supply

2) Avascular Necrosis of femoral bone
3) Collapse of necrotic bone
4) Revascularization and resorption (New blood vessels infiltrate.and Bone
remodeling begins, with new bone forming in the femoral head.)

5) Healing and remodeling, but may result in flattened femoral head

 Lovell and winter’s pediatric Orthopaedics, 8th edition, Chapter 19

Clinical features
Gradual onset, typically between 4-10 years of age. Males more affected then females (4:1)

Symptom/Sign Description

Limp Painless or painful, often the

earliest sign

Hip or groin pain May radiate to thigh or knee (referred pain)

Limited range of motion Especially in abduction and internal

rotation

Trendelenburg gait Due to gluteus medius weakness

Muscle atrophy Thigh muscle wasting

Short stature or leg length Seen in advanced cases

discrepancy
Stages (Waldenström’s Classification)

1. Initial/Necrosis stage – Ischemia, synovitis, normal X-ray or subtle changes

2. Fragmentation stage – Revascularization, fragmentation of epiphysis

3. Reossification stage – Bone repair and remodeling

4. Healing/Residual stage – Reconstitution of epiphysis or deformation

 Nelson Textbook of Paediatrics, 21st Ed; Tachdjians Paediatrics Orthopaedics, 5th Edition

Investigations
🧪 Lab Tests

● Mostly normal

● Rule out infective or inflammatory causes (e.g., CBC, ESR, CRP)

🩻 Imaging

1. X-ray (AP & frog-leg lateral pelvis)

○ Early: May appear normal

○ Late: Crescent sign, fragmentation, flattening, and sclerosis of femoral head

2. MRI – Most sensitive for early diagnosis

○ Shows bone marrow edema, ischemia before X-ray changes

3. Bone scan (Technetium-99m) – Decreased uptake in early stage (cold spot)

 Management
Non-Surgical (Conservative)

Most cases, especially under 6 years or mild deformity:

● Activity restriction / protected weight-bearing

Tachdjians Paediatrics Orthopaedics, 5th Edition; Lovell and winter’s pediatric Orthopaedics, 8th edition, Chapter 19
● NSAIDs for pain relief

● Physiotherapy to maintain hip motion

● Bracing (e.g., Petrie cast or Scottish Rite brace) to contain femoral head within acetabulum

🛠 Surgical

Indicated in:

● Older children (>8 years)

● Extensive involvement

● Severe femoral head deformity

Management
Procedures:

● Femoral or pelvic osteotomy (varus derotation osteotomy)

● Arthrodiastasis

● Joint preservation techniques

5. Slipped Capital
Femoral Epiphysis
(SCFE)
Nelson Essentials of Paediatrics. (8th Ed.) Page. 769-770
Definition
- An adolescent hip disorder
- The incidence is 0.18 per 100,000
- Slightly higher in males
- 20% of patients with SCFE have bilateral Risk factors:
involvement at presentation ,
1. Obesity
20-40% may progress to bilateral 2. Trisomy 21
involvement 3. Endocrine disorder:
- Hypothyroid
- Average age is 10-16 years - Pituitary tumor
- Growth hormone deficiency
Classification
1. Acute
- Symptoms < 3 weeks
1. Stable 2. Chronic
- Refuse to ambulate even - Symptoms > 3 weeks
with crutches
3. Acute-on-chronic
2. Unstable
- > 3 weeks of symptoms are
- Have antalgic gait
accompanied by an acute
exacerbation of pain and
difficulty / inability to bear
weight
Clinical Features
- Based on severity and type of slip
1. Hip or knee pain
2. Limp or inability to ambulate
3. Decreased hip range of motion
4. Patients hold the affected extremity in external
rotation
5. Limitation of internal rotation; loss of flexion and
ABduction
6. Antalgic gait with affected leg in external rotation
Investigation
● Anteroposterior and frog-leg
radiographs are indicated
● Earliest sign is widening of the
physis without slippage
● Klein’s line intersects lateral
capital epiphysis on AP
● MRI: useful in pre-slip diagnosis
and evidence of AVN
Management
● Patient should be immediately made on non- weight
bearing and referred to pediatric orthopaedic
● Accomplished with internal fixation in situ with
single cannulated screw
● More severe cases may require surgical hip
dislocation and reduction to realign the epiphysis
Thank You