Spinal canal stenosis in L-2-hydroxyglutaric aciduria

We describe 2 brothers with L-2-hydroxyglutaric aciduria who developed severe spastic tetraparesis in their 30s. They also had an underlying condition of high-grade cervical spinal canal stenosis diagnosed by magnetic resonance imaging. They were operated on to decompress the spine, and the preexisting gait disturbances slowly diminished after the decompression. Since most people with L-2-hydroxyglutaric aciduria show spastic signs in their legs and arms, we conclude that cervical spinal canal stenosis may be the underlying reason and may be linked to this rare metabolic disorder.