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

M. G. Smits; F. J. M. Gabreëls; W. O. Renier; E. M. G. Joosten; A. A. W. M. Gabreëls-Festen; H. J. ter Laak; A. J. L. Pinckers; G. C. J. Hombergen; S. L. H. Notermans; H. O. M. Thijssen

doi:10.1055/s-2008-1059617

Neuropediatrics 1982; 13(3): 161-167
DOI: 10.1055/s-2008-1059617

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

Abstract

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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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