Adult adrenoleucodystrophy with hypercortisolemia.
A 39-year-old male showed rapid progression of cerebral white matter involvement after 8 years' duration of adrenomyeloneuropathy. Increased ratio of C:26 to C:22 in the fatty acid composition of sphyngomyelin in the blood and needle-like cytoplasmic inclusions in the biopsied peripheral nerve were indicative of adrenoleucodystrophy or adrenoleucomyeloneuropathy. Plasma ACTH levels were extremely elevated, but most of ACTH immunoactivity was eluted at the molecular weight of 55000. Plasma cortisol levels were initially within normal range and were elevated in the final stage. Possible mechanism of elevated ACTH in this disorder was briefly discussed.
D000324:Adrenocorticotropic Hormone / Q000097:blood; D000326:Adrenoleukodystrophy / Q000097:blood* / Q000175:diagnosis / Q000000981:diagnostic imaging; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000097:blood*; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D006854:Hydrocortisone / Q000097:blood*; D008297:Male; D008970:Molecular Weight; D009128:Muscle Spasticity / Q000209:etiology; D010264:Paraplegia / Q000209:etiology; D011877:Radionuclide Imaging
D005227:Fatty Acids; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone