pediatrics
Spina Bifida
Key Points
Spina bifida involves defective closure of the vertebral column, sometimes with a protruding sac containing meninges (meningocele), spinal cord (myelocele), or both (myelomeningocele). Chiari II type malformation, often causing hydrocephalus, is common. Folate deficiency is a significant risk factor, but other factors include maternal use of certain medications (eg, valproate), maternal diabetes, and possibly a genetic component. Children with minor defects can be asymptomatic, but others typically have varying degrees of paralysis and sensory deficits below the lesion. Lack of muscle innervation leads to atrophy of the legs and orthopedic deformities. Screen prenatally using fetal ultrasonography and maternal serum levels of alpha-fetoprotein. Repair the spinal lesion, place a shunt for symptomatic hydrocephalus, and treat orthopedic and urologic abnormalities as needed. Reduce risk by giving folate supplementation beginning before conception. 