Adrenoleukodystrophy: unusual clinical and radiographic manifestation.
Adrenoleukodystrophy is an X-linked recessive peroxisomal disorder, characterized by progressive neurologic deterioration due to cerebral white matter demyelination and adrenal insufficiency. Onset is usually in childhood between ages 5 and 10, and its course is fatal within approximately 5 years. Initial symptoms are behavioral, gait, and auditory disturbances and may be a diagnostic dilemma. Abnormally raised plasma very long chain fatty acids (VLCFA) are diagnostic; computed tomography and magnetic resonance imaging findings show symmetrical occipital white matter lesions which progress in a rostralcaudal direction.
Department of Pathology, Orlando Regional Healthcare System, Fla., USA.
G A
GA
Williams
G S
GS
Pearl
M A
MA
Pollack
R E
RE
Anderson
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000000981:diagnostic imaging; D001921:Brain / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed