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Symptoms, diagnosis and causes of spina bifida

Symptoms, diagnosis and causes of spina bifida

Symptoms, diagnosis and causes of spina bifida

Symptoms, diagnosis and causes of spina bifida

Consultation and assessment

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.

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Signs and symptoms

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

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.

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.

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Symptoms, diagnosis and causes of spina bifida

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