Progressive spastic paraparesis and adrenal insufficiency.
A 10-year-old boy with progressive paraparesis, personality change, and seizures had laboratory evidence of adrenal insufficiency. Pathologic study showed cerebral edema, but no loss of myelin. Notable pathologic changes were limited to the spinal cord, where the corticospinal and spinocerebellar tracts were demyelinated. Lipid analysis of the brain was normal apart from the finding that galactocerebroside contained a higher proportion than normal of alpha-hydroxy fatty acids. We suggest that this case represents a distinct disease, differing importantly from adrenoleukodystrophy. The underlying defect appears to be in the early enzymatic pathway before cholesterol synthesis, although it is also possible that the defect is at the cell membrane.
D000309:Adrenal Insufficiency / Q000150:complications* / Q000473:pathology; D001923:Brain Chemistry; D002554:Cerebrosides / Q000032:analysis; D002648:Child; D006801:Humans; D008055:Lipids / Q000032:analysis; D008297:Male; D009128:Muscle Spasticity / Q000209:etiology* / Q000473:pathology; D009186:Myelin Sheath / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013577:Syndrome
D002554:Cerebrosides; D008055:Lipids