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Neuropediatrics 1983; 14(2): 110-112
DOI: 10.1055/s-2008-1059565
DOI: 10.1055/s-2008-1059565
An Atypical Case of Infantile Globoid Cell Leukodystrophy
Further Information
Publication History
Publication Date:
19 March 2008 (online)
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