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Neuropediatrics 1982; 13(3): 161-167
DOI: 10.1055/s-2008-1059617
© Georg Thieme Verlag KG Stuttgart · New York

Peripheral and Central Myelinopathy in Cockayne's Syndrome. Report of 3 Siblings

M. G. Smits1 , F. J. M. Gabreëls1 , W. O. Renier1 , E. M. G. Joosten2 , A. A. W. M. Gabreëls-Festen2 , H. J. ter Laak2 , A. J. L. Pinckers3 , G. C. J. Hombergen4 , S. L. H. Notermans5 , H. O. M. Thijssen6
  • 1Department of Child Neurology, Radboud University Hospital, Nijmegen, The Netherlands
  • 2Institute of Neurology, Radboud University Hospital, Nijmegen, The Netherlands
  • 3Institute of Ophthalmology, Radboud University Hospital, Nijmegen, The Netherlands
  • 4Institute of Oto-rhino-laryngology, Radboud University Hospital, Nijmegen, The Netherlands
  • 5Department of Clinical Neurophysiology, Radboud University Hospital, Nijmegen, The Netherlands
  • 6Department of Neuroradiology, Radboud University Hospital, Nijmegen, The Netherlands
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Three siblings with Cockayne's syndrome are reported. Sural nerve biopsies revealed segmental de- and remyelination with onion-bulb formation. Disturbed visual and brainstem 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.

Key words

Cockayne's syndrome - Central myelinopathy - Peripheral myelinopathy - Leukodystrophy

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