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...

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Bibliographic Details
Published inNeuropediatrics Vol. 13; no. 3; p. 161
Main Authors Smits, M G, Gabreëls, F J, Renier, W O, Joosten, E M, Gabreëls-Festen, A A, ter Laak, H J, Pinckers, A J, Hombergen, G C, Notermans, S L, Thijssen, H O
Format Journal Article
LanguageEnglish
Published Germany 01.08.1982
Subjects
Adolescent
Adult
Audiometry, Evoked Response
Brain - diagnostic imaging
Brain Stem - physiopathology
Cockayne Syndrome - diagnosis
Cockayne Syndrome - physiopathology
Dwarfism - diagnosis
Electroencephalography
Female
Humans
Male
Muscles - pathology
Neural Conduction
Radiography
Sural Nerve - pathology
Vision, Ocular
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Summary: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.
ISSN:0174-304X
DOI:10.1055/s-2008-1059617