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Spina bifida: Treatment, symptoms, advice and help

About Spina bifida

Spinal bifida is a developmental birth defect caused by a failure of fusion of the vertebral arches and possibly the underlying neural tube. There are two types: spina bifida occulta in which the split in the vertebrae is so small that the spinal cord does not protrude and spina bifida cystica, in which a cyst protrudes through the defect in the vertebral arch.

Spina bifida: Incidence, age and sex

Spina bifida cystica has an incidence of 1:300 live births. This is now decreasing as a consequence of folic acid supplementation, antenatal ultrasound and the measurement of alpha – fetoprotein levels.

Signs and symptoms of spina bifida: Diagnosis

In occulta, the skin at the site of the lesion may be normal, or it may have some hair growing from it; there may be a dimple in the skin, a lipoma, a dermal sinus or a birthmark. The condition is asymptomatic in most cases.

Spina bifida cystica is usually obvious at birth. A neurological examination of the structures below the defect should be carefully performed. The head should be examined for evidence of hydrocephalus. There are two basic types: Meningocele where the meninges herniated through the bony defect and are covered by skin and myelomeningocele where the roof of the defect, is formed by exposed neural tissue with 75% of cases developing hydrocephalus.

Causes and prevention of spina bifida

Both genetic factors (heredity) and environmental factors, such as nutrition and exposure to harmful substances, probably contribute to spina bifida. Spina bifida runs in families, with mixed patterns of inheritance. The incidence of spina bifida can be decreased by up to 75% when daily folic acid supplements are taken prior to conception.

Spina bifida: Complications

Following surgery, regular examinations are required to detect hydrocephalus. Long-term problems include skin, bone and joint deformity and the complications associated with a neuropathic bladder. The majority of children meningomyelocoele, die in their first year from hydrocephalus or from an infection if closure is not attempted.

Spina bifida: Treatment

A meningocele with good-quality skin over the defect may be treated conservatively. A meningocele with a more prominent sac can be excised at 3-6 months. The management of myelomeningocele is more controversial. Spina bifida can be surgically closed after birth, but this does not restore normal function to the affected part of the spinal cord. Most experts recommend a more selective approach and feel it is inappropriate to operate on children with severe hydrocephalus, a large open defect and no distal neurological function. With antibiotics, early surgical closure and shunts to prevent hydrocephalus, half the children who survive the first 24 hours will reach school age.