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Spinal canal stenosis in L-2-hydroxyglutaric aciduria
M Warmuth-Metz1, G Becker, M Bendszus
1Abt. f. Neuroradiologie, Josef-Schneider-Strasse 11, D-97080, Würzburg, Germany. warmuth@neuroradiologie.uni-wuerzburg.de
Archives of Neurology
|November 14, 2000
Summary
Two brothers with L-2-hydroxyglutaric aciduria experienced severe spastic tetraparesis. Cervical spinal stenosis may underlie this rare metabolic disorder, as decompression surgery improved gait disturbances.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- L-2-hydroxyglutaric aciduria is a rare metabolic disorder.
- Spasticity in limbs is a common symptom.
Observation:
- Two brothers with L-2-hydroxyglutaric aciduria developed severe spastic tetraparesis in their 30s.
- Both patients had high-grade cervical spinal canal stenosis.
Findings:
- Surgical decompression of the cervical spine led to a gradual improvement in gait disturbances.
- This suggests a potential link between cervical spinal stenosis and the neurological symptoms.
Implications:
- Cervical spinal canal stenosis may be a significant, previously unrecognized factor in the presentation of L-2-hydroxyglutaric aciduria.
- Further research is warranted to explore this connection and its therapeutic implications for patients with this metabolic disorder.