Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.
Three siblings with Cockayne's syndrome are reported. Sural nerve biopsies revealed segmental de- and remyelination with onion-bulb formation. Disturbed visual and brain-stem auditory evoked responses indicated demyelination of the central nervous system. The peripheral and central myelinopathy increased with age, suggesting a progressive disorder. Our observations support the theory of Cockayne's syndrome being a leukodystrophy.
D000293:Adolescent; D000328:Adult; D001300:Audiometry, Evoked Response; D001921:Brain / Q000000981:diagnostic imaging; D001933:Brain Stem / Q000503:physiopathology; D003057:Cockayne Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D004392:Dwarfism / Q000175:diagnosis*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009431:Neural Conduction; D011859:Radiography; D013497:Sural Nerve / Q000473:pathology; D014785:Vision, Ocular