28 Neurocutaneous

Dr. professor :
Syndromes

▪ Neurocutaneous syndromes
➢ As the name implies, neurocutaneous syndromes are disorders involving the nervous
system and the skin.
➢ Other organs may be involved.
➢ These are group of disorders that affect the brain, spinal cord, organs, skin, and
bones.
➢ These diseases are precancerous diseases.
➢ They can also cause other problems such as hearing loss, seizures, and developmental
problems.
➢ Each disorder has different symptoms.
➢ The most common types of neurocutaneous syndromes are:
- Neurofibromatosis (NF; von Recklinghausen Disease) NF-1 and NF-2
- Tuberous sclerosis complex
- Sturge-Weber syndrome

NF-1 TSC

SWS

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 ▪ Cerebral Palsy

➢ Definition:
- A non progressive, permanent motor disorder (muscle power, tone, movements,
coordination) due to insult in immature brain.
- May or may not be associated with epilepsy, mental handicap, visual, hearing
impairment, and/or speech and language delay.
- Although the lesion is non- progressive, the resulting clinical picture is not static
because the child is developing; for example, an atonic type CP can change to spastic
type.
- It is static, non-progressive disorder of CNS secondary to an insult to immature brain,
resulting in varying degrees of motor milestone delay and dysfunction.
- It results in paralysis, weakness, in coordination or abnormal movement.
- Higher among preterm infants.
- Prevalence has increased by 20% in developed countries due to survival of very low
birth weight infants (VLBW).
- Up to 50% have no identifiable cause.

➢ Site of brain lesion:

➢ Etiology:
a. Prenatal
1. Infection: TORCH (Toxoplasma, Rubella, CMV and Herpes simplex).
2. Cerebral malformation
3. Obstetrical complication: pre-eclampsia, eclampsia, abruptio placentae, placenta
previa, placental infarction
4. Maternal diseases
5. Abuse of drugs
b. Perinatal (birth process until 1m of age)
1. Prematurity 2. Low birth weight
3. Complicated delivery 4. Cerebral trauma
5. Hyperbilirubinemia (post-kernictric CP)
6. Infections: Herpes simplex, meningitis 7. Severe hypoglycemia

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c. Post natal.
1. Infections: Meningitis, encephalitis
2. Head injury 3. Cerebral anoxia
4. Asphyxia 5. Near drowning
6. Cardiac arrest 7. Cerebrovascular accidents
NB. In CP, muscles are not affected but brain is unable to send appropriate signals
➢ Classification:
- Because of the wide variability in presentation and types of cerebral palsy, there is
no universally accepted classification scheme. But we can classify according to:
a) Neurological deficit: pyramidal, extrapyramidal and mixed.
b) Type of movement: spastic (70%), ataxic, athetoid.
c) Area of affected limb: monoplegic, hemiplegic …..

✓ N.B:
1. Chorea: sudden, jerky, purposeless proximal involuntary movements
2. Athetosis: slow, twisting and wormy distal involuntary movements.
3. Dystonia: as athetosis but in neck, trunk & proximal parts → opisthotonos,
extensor spasm.
4. Tremors: rhythmic, rapid alternating involuntary movements.

Spastic hemiplegic CP Spastic quadriplegic CP

Tiptoe

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➢ Clinical presentation:
1) Early signs:
- Abnormal tone and posture (stiff or floppy infant).
- Persistent neonatal reflexes.
- Clenched hands after 4 months.
- Difficulty in abducting thighs during changing diaper due to spasticity.
- Feeding difficulties or weak or absent sucking.
2) Delayed motor milestones, early handedness, very early neck support.
3) Abnormal gait: scissor gait, tip toe gait, crouch gait.
4) Associated problems:
- Mental retardation. - Behavioral disorders.
- Seizures. - Vision and hear disorders.
- Nutritional difficulties - Neurogenic bladder and neurogenic bowl.

➢ Diagnosis:
1. History
2. Complete neurologic and developmental exams
3. CT or MRI (location and extent of lesions or abnormalities)
4. If spinal involvement, MRI of spine
5. EEG
6. Hearing and visual evaluation
7. Genetic evaluation.
8. IQ test.

➢ Management: (Multidisciplinary team)

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➢ Prevention:
- Prevention of cerebral palsy is the ideal approach of this problem and is
accomplished through:
1. prevention of maternal irradiation and unnecessary drug intake.
2. antenatal monitoring to prevent intrapartum asphyxia.
3. prevention of birth trauma and perinatal asphyxia.
4. prevention of hypoglycemia.
5. prevention of low birth weight and its complications.
6. proper management of neonatal jaundice.

✓ Early diagnosis is necessary in order to prevent secondary positional deformities.

▪ Neurodegenerative disorders
- The hallmark of neurodegenerative disorders is typically progressive deterioration of
neurologic function.
- This includes loss of speech, vision, hearing, and/or walking; feeding difficulties,
cognitive dysfunction, and possible seizures; and regression of developmental
milestones.