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Hydromyelia complicating Apert's syndrome: a case report
Neurosurgery
|July 1, 1985
Insights
Apert syndrome in a child with hydrocephalus led to spinal cord issues. Surgical intervention improved scoliosis and leg weakness, suggesting a link between craniofacial and spinal cord anomalies.
Area of Science:
- Neurosurgery
- Pediatric Neurology
- Clinical Genetics
Background:
- Apert syndrome is a rare genetic disorder characterized by premature fusion of skull bones and midface hypoplasia.
- Hydrocephalus is a common complication in Apert syndrome, often requiring surgical management.
- Spinal abnormalities, including scoliosis and myelopathy, can occur in patients with Apert syndrome.
Observation:
- A 7-year-old boy with Apert syndrome and hydrocephalus presented with progressive scoliosis and lower extremity weakness.
- Neuroradiological imaging revealed bony abnormalities at the foramen magnum and significant hydromyelia of the spinal cord.
- The patient's neurological deficits correlated with the observed spinal cord pathology.
Findings:
- Surgical treatment involving posterior fossa decompression and a myelotomy of the caudal conus medullaris resulted in significant clinical improvement.
- The patient experienced resolution of lower extremity weakness and improvement in scoliosis post-operatively.
- Histopathological examination of the resected tissue is pending.
Implications:
- This case suggests a potential pathogenetic link between craniofacial anomalies in Apert syndrome and the development of spinal hydromyelia.
- Surgical decompression and intervention at the caudal conus medullaris may be an effective treatment for hydromyelia in this context.
- Further research is warranted to elucidate the mechanisms connecting craniofacial development and spinal cord pathology in Apert syndrome.
Abstract:
A 7-year-old boy with Apert's syndrome and hydrocephalus presented with scoliosis and lower extremity weakness. Neuroradiological evaluation demonstrated bony abnormalities involving the foramen magnum and a markedly hydromyelic spinal cord. Clinical improvement followed posterior fossa decompression and a myelotomy on the caudal conus medullaris. A possible role of the craniofacial anomaly in the pathogenesis of the hydromyelia is discussed.