Adrenoleukodystrophy manifesting as spinocerebellar degeneration.
X-linked adrenoleukodystrophy (XALD) is an inherited disorder of peroxisomal metabolism. Atypical presentations have been occasionally reported in literature. However, extrapyramidal and cerebellar manifestations are distinctly rare. We report a patient of X-linked adrenoleukodystrophy with cranial and cervical dystonia and neurological presentation resembling spinocerebellar degeneration followed by a brief review of relevant literature.
Mishra
Sanjay
S
Department of Neurology, PGIMER, Chandigarh, Punjab, India.
Modi
Manish
M
Das
Chandi P
CP
Prabhakar
Sudesh
S
D000326:Adrenoleukodystrophy / Q000473:pathology*; D000328:Adult; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013132:Spinocerebellar Degenerations / Q000473:pathology*