Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy.
A case of adrenoleukodystrophy showing neurological features of olivopontocerebellar atrophy is described. A CT scan demonstrated marked atrophy in both cerebellum and pons. ACTH stimulation produced no rise in the plasma cortisol level but a significant rise in the plasma aldosterone level. The ratios of C26:0 to C22:0 in fatty acids of sphingomyelin from erythrocyte membrane and plasma were increased.
D000324:Adrenocorticotropic Hormone / Q000494:pharmacology; D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000000981:diagnostic imaging; D000450:Aldosterone / Q000097:blood; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology*; D003937:Diagnosis, Differential; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D005227:Fatty Acids / Q000032:analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D009847:Olivary Nucleus / Q000473:pathology*; D011149:Pons / Q000473:pathology*; D013109:Sphingomyelins / Q000097:blood; D014057:Tomography, X-Ray Computed
D005227:Fatty Acids; D013109:Sphingomyelins; D000450:Aldosterone; D000324:Adrenocorticotropic Hormone