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Neuropediatrics 1983; 14(2): 110-112
DOI: 10.1055/s-2008-1059565
© Georg Thieme Verlag KG Stuttgart · New York

An Atypical Case of Infantile Globoid Cell Leukodystrophy

A. J. M. Vos1 , E. M. G. Joosten1 , A. A. W. M. Gabreëls-Festen1 , F. J. M. Gabreëls1 , E. M. G. Joosten2 , F. A. M. Verspreet3
  • 1Institute of Neurology, Radboud University Hospital, P.O. Box 9101,6500 HB Nijmegen, The Netherlands
  • 2Department of Submicroscopic Morphology, Radboud University Hospital, P.O. Box 9101,6500 HB Nijmegen, The Netherlands
  • 3Department of Pediatrics, St. Anna Hospital, Bogardeind 2, 5664 EM Geldrop, The Netherlands
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Publikationsdatum:
19. März 2008 (online)

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Abstract

A 17-month-old boy with infantile globoid cell leukodystrophy is presented. The diagnosis was made by enzymic assay. Atypical features of his disease included a delayed onset at 12 months and a slow course. At the time of diagnostic evaluation, 5 months after onset, the usual features of opisthotonos posture, slowing of nerve conduction and marked elevation of cerebrospinal fluid protein were still absent. Sural nerve biopsy showed no significant demyelination and only inconspicuous deposition of the characteristic storage products.

Key words

Infantile GLD - Sural nerve biopsy