Spinal Dysraphism

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Clinical assessment

Myelomeningocele: This lesion should be carefully examined for the presence of neural elements. Transillumination of the sac may help. Observation of movement in the limbs and in specific muscle groups, occurring spontaneously and in response to pain applied both above and below the level of the lesion, helps determine the degree and level of neurological damage. Also note the presence of a dilated bladder and a patulous anal sphincter. Look for any associated congenital anomalies, e.g. hydrocephalus, scoliosis, foot deformities.

Meningocele: Patients with this lesion seldom show any neurological deficit.

Investigations

Ultrasound or MRI may detect neural elements extending into the sac.

Management

Myelomeningocele: Advances in both orthopaedic and urological procedures have considerably improved the long-term management of the associated disabilities in most patients. Active treatment, however, in patients with gross hydrocephalus, complete paraplegia and other multiple anomalies as well as the spinal dysraphism, may merely prolong a painful existence. In these patients, many adopt a thoughtful conservative approach.

Immediate treatment requires closure and replacement of the neural tissues into the spinal canal to prevent infection. If necessary, this initial step provides more time to consider the wisdom of embarking on further active management.

Meningocele: In the presence of a CSF leak, urgent excision is performed; otherwise this is deferred, perhaps indefinitely if the lesion is small.

Spina bifida occulta: Treatment may not be required, although patients with a cutaneous abnormality or with neurological signs, should undergo ultrasound or MRI to exclude an intraspinal anomaly.

Antenatal diagnosis

Screening the maternal serum/amniotic fluid for alpha-fetoprotein and acetylcholinesterase, fetal ultrasonography and contrast enhanced amniography in high risk patients (e.g. with an affected sibling) provides an effective method of detecting neural tube defects. This gives the parents the possibility of therapeutic abortion and in the long term may reduce the incidence of this condition.

MRI showing a thoracic myelomeningocele with spinal cord extending through the deficit.

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