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Cervicomedullary junction decompression in a case of Marshall-Smith syndrome. Case report
1Division of Neurological Surgery, Barrow Neurological Institute, Phoenix, Arizona.
Journal of Neurosurgery
|August 1, 1991
Insights
Marshall-Smith syndrome can cause brain-stem compression due to bone abnormalities at the craniovertebral junction. This rare condition required surgical intervention in a 2-year-old boy with swallowing difficulties and quadriparesis.
Area of Science:
- Pediatric Neurology
- Skeletal Dysplasias
- Neurosurgery
Background:
- Marshall-Smith syndrome is a rare genetic disorder characterized by distinctive facial features, skeletal abnormalities, and developmental delays.
- Craniovertebral junction abnormalities can lead to serious neurological complications, including brain-stem compression.
- Compression of the medulla and cervical spine can result in significant motor deficits and swallowing difficulties.
Abstract:
The case is reported of a 2-year-old boy born with Marshall-Smith syndrome who had difficulty in swallowing and who exhibited spasticity and quadriparesis due to compression of the medulla and cervical spine. This is the first child with this rare condition reported to have brain-stem compression from bone abnormalities at the craniovertebral junction and who has required surgery.