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NEURAL TUBE DEFECTS and NEUROCUTANEOUS SYNDROMES

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NEURAL TUBE DEFECTS

 

  1. defective closure of caudal neural tube in fourth week gestation tovarying degrees
  2. spina bifida occulta: vertebrae only (L5, S1), may have  identifying dimple or tuft of hair; generally asymptomatic
  3. meningocele: vertebrae, meninges involved whereas myelomeningocele also includes spinal cord; neurologic deficits depend on level of lesion (include bowel/bladder dysfunction, paralysis and sensory deficits)

Etiology

  1. most neural tube defects are polygenic
  2. folic acid administration prior to conception lowers the risk of NTDs > 75%

 

Screening

 

  1. antenatal screening: triple screen, amniotic fluid AFP
  2. U/S + triple screen will detect 90% of NTDs
  3. examine backs of all newborns for pigmented spots or hairy patches

Management

 

  1. essential to have multidisciplinary approach for the family
  2. closure of the skin defect to prevent infection
  3. shunting to address associated hydrocephalus
  4. intermittent catheterization to decrease UTIs, reflux nephropathy
  5. orthopedics/orthotics and physiotherapy to help with posture and ambulation
  6. anesthetic skin care (e.g. bed sores)
  7. tethered cord release
  8. also important to address social issues

NEUROCUTANEOUS SYNDROMES


o characterized by tendency to form tumours of CNS, PNS, viscera and skin


Neurofibromatosis type I

 

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  1. Cafe-au-lait spots, axillary freckles, Lisch nodules of the iris,neurofibromas (progressive and potential to invade)
  2. seizures, scoliosis, optic glioma
  3. type II does not have above lesions; associated with brain tumours; bilateral acoustic neuromas are diagnostic

 

Lsch nodules

Sturge-Weber's:

 

  • port-wine nevus in V-1 distribution with associated
  • angiomatous malformation of brain, seizures, contralateral hemiparesis


Tuberous Sclerosis:

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  1. adenoma sebaceum, “ash leaf” hypopigmentation,
  2. cardiac rhabdomyomas, kidney angioleiomyomas, mental retardation and seizures
NEURAL TUBE DEFECTS and NEUROCUTANEOUS SYNDROMES NEURAL TUBE DEFECTS and NEUROCUTANEOUS SYNDROMES Reviewed by Radiology Madeeasy on October 03, 2010 Rating: 5
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