Hydromyelia complicating Apert's syndrome: a case report.

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.