An atypical case of infantile globoid cell leukodystrophy

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.