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Noonan's syndrome with syringomyelia.
The Japanese Journal of Psychiatry and Neurology
|March 1, 1986
Summary
This report details a rare case of Noonan syndrome associated with cervical syringomyelia, a condition affecting the spinal cord. Further research is needed to understand if this link is coincidental or causal.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Noonan syndrome is a genetic disorder with diverse clinical manifestations.
- Syringomyelia involves the formation of a cyst or cavity within the spinal cord.
Observation:
- A patient with Noonan syndrome presented with cervical syringomyelia.
- CT myelography identified an abnormality in the cervical subintradural space.
- Minimal sensory dissociation was noted in the left C4 dermatome.
Findings:
- This case represents the second documented instance of Noonan syndrome associated with syringomyelia.
- The imaging findings revealed a high-density area below C2 in the cervical region.
- The neurological examination showed subtle sensory deficits.
Implications:
- The association between Noonan syndrome and syringomyelia requires further investigation.
- Understanding this link may improve diagnostic and management strategies for affected individuals.
- This case highlights the complex interplay between genetic syndromes and spinal cord pathologies.