NEURAL TUBE DEFECTS defective closure of caudal neural tube in fourth week gestation tovarying degrees spina bifida occulta :...
NEURAL TUBE DEFECTS
- defective closure of caudal neural tube in fourth week gestation tovarying degrees
- spina bifida occulta: vertebrae only (L5, S1), may have identifying dimple or tuft of hair; generally asymptomatic
- 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
- most neural tube defects are polygenic
- folic acid administration prior to conception lowers the risk of NTDs > 75%
Screening
- antenatal screening: triple screen, amniotic fluid AFP
- U/S + triple screen will detect 90% of NTDs
- examine backs of all newborns for pigmented spots or hairy patches
Management
- essential to have multidisciplinary approach for the family
- closure of the skin defect to prevent infection
- shunting to address associated hydrocephalus
- intermittent catheterization to decrease UTIs, reflux nephropathy
- orthopedics/orthotics and physiotherapy to help with posture and ambulation
- anesthetic skin care (e.g. bed sores)
- tethered cord release
- also important to address social issues
NEUROCUTANEOUS SYNDROMES
o characterized by tendency to form tumours of CNS, PNS, viscera and skin
Neurofibromatosis type I
- Cafe-au-lait spots, axillary freckles, Lisch nodules of the iris,neurofibromas (progressive and potential to invade)
- seizures, scoliosis, optic glioma
- type II does not have above lesions; associated with brain tumours; bilateral acoustic neuromas are diagnostic
Sturge-Weber's:
- port-wine nevus in V-1 distribution with associated
- angiomatous malformation of brain, seizures, contralateral hemiparesis
Tuberous Sclerosis:
- adenoma sebaceum, “ash leaf” hypopigmentation,
- cardiac rhabdomyomas, kidney angioleiomyomas, mental retardation and seizures
