Spina Bifida

Causes of spina bifida seem multifactorial. Folate deficiency is a significant factor, and there seems to be a genetic component. Other risk factors include maternal use of certain drugs Effects of drug use during pregnancy Drugs are used in over half of all pregnancies, and prevalence of use is increasing. The most commonly used drugs include antiemetics, antacids, antihistamines, analgesics, antimicrobials, diuretics... read more (eg, valproate) and maternal diabetes Diabetes Mellitus in Pregnancy Pregnancy aggravates preexisting type 1 (insulin-dependent) and type 2 (non–insulin-dependent) diabetes but does not appear to exacerbate diabetic retinopathy, nephropathy, or neuropathy ( 1)... read more .

Many children with minor defects are asymptomatic.

Spinal cord imaging, with ultrasonography or MRI, is essential in children with occult spinal dysraphism; even children with minimal cutaneous findings may have underlying spinal abnormalities (those with overt defects do not require spinal cord imaging because the anatomy is known). Plain x-rays of the spine, hips, and, if they are malformed, lower extremities are done. Cranial imaging using ultrasonography, CT, or MRI is done to look for hydrocephalus and syringomyelia.

Once the diagnosis of spina bifida is made, urinary tract evaluation is essential and includes urinalysis, urine culture, BUN and creatinine determination, and ultrasonography. Measurement of bladder capacity and pressure at which urine exits into the urethra can determine prognosis and intervention. Need for further testing, such as urodynamics and voiding cystourethrogram, depends on previous findings and associated anomalies.

Prognosis varies by the level of cord involvement and the number and severity of associated anomalies. Prognosis is worse for children with higher cord level (eg, thoracic) lesions or who have kyphosis, hydrocephalus, early hydronephrosis, and associated congenital anomalies. With proper care, however, most children do well. Loss of renal function and ventricular shunt complications are the usual causes of death in older children.

Without early surgical treatment, neurologic damage can progress in occult spinal dysraphism. Treatment for all spina bifida requires a united effort by specialists from several disciplines; neurosurgical, urologic, orthopedic, pediatric, psychiatric/psychologic, and social service evaluations are important. It is important to assess the type, vertebral segment, and extent of the lesion; the infant’s health status; and associated anomalies. Discussion with the family should ascertain the family’s strengths, desires, and resources, and community resources, including availability of ongoing care.

A myelomeningoocele identified at birth is covered immediately with a sterile dressing. If the myelomeningocele is leaking CSF, antibiotics are started to prevent meningitis. Neurosurgical repair of a myelomeningocele or an open spine typically is done within the first 72 h after birth to reduce the risk of meningeal or ventricular infection. If the lesion is large or is in a difficult location, plastic surgeons may be consulted to ensure adequate closure.

Hydrocephalus may require a shunt procedure in the neonatal period (see treatment of hydrocephalus Treatment Hydrocephalus is accumulation of excessive amounts of CSF, causing cerebral ventricular enlargement and/or increased intracranial pressure. Manifestations can include enlarged head, bulging... read more ); sometimes a ventricular shunt is inserted when the back is repaired.

Kidney function must be monitored closely, and UTI should be treated promptly. Obstructive uropathy at either the bladder outlet or ureteral level must be treated vigorously to prevent infection. When children are between 2 and 3 yr of age, or at any time if they have elevated pressure in the bladder with vesicoureteral reflux, clean intermittent catheterization is done to empty the bladder on a regular basis. Catheterization increases continence and maintains bladder and kidney health.

At around the same time, children are placed on the commode or toilet after meals to encourage fecal continence. Well-balanced diets are encouraged; stool softeners, laxatives, or a combination may be helpful to ensure regular bowel movements and to increase continence (see treatment of stool incontinence Treatment Stool incontinence is the voluntary or involuntary passage of stool in inappropriate places in children > 4 years of age (or developmental equivalent) who do not have an organic defect or... read more ). In older children, an antegrade colonic enema procedure, in which a hole is placed through the abdominal wall into the colon to allow infusion of liquids, can improve continence. The hole is kept open by a tube (eg, a gastrostomy feeding tube).

Orthopedic care should begin early. If a clubfoot Talipes Equinovarus (Clubfoot) and Other Foot Abnormalities Talipes equinovarus, sometimes called clubfoot, is characterized by plantar flexion, inward tilting of the heel (from the midline of the leg), and adduction of the forefoot (medial deviation... read more is present, a cast is applied; surgery is often necessary after casting. Hip joints are checked for dislocation. Affected children should be monitored for development of scoliosis, pathologic fractures, pressure sores, and muscle weakness and spasm.

Folate supplementation (400 to 800 mcg po once/day) in women beginning 3 mo before conception and continuing through the 1st trimester reduces the risk of neural tube defects (see prevention of congenital neurologic anomalies Prevention Congenital brain anomalies usually cause severe neurologic deficits; some may be fatal. Some of the most serious neurologic anomalies (eg, anencephaly, encephalocele, spina bifida) develop in... read more ).

Women who are considered at high risk of neural tube defects, ie, women who have had a fetus or infant with a neural tube defect, should take folate 4 mg (4000 mcg) po once/day.