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Fatal infantile X-linked neuropathy.

Authors
Type
Published Article
Journal
Journal of Child Neurology
0883-0738
Publisher
SAGE Publications
Publication Date
Volume
15
Issue
12
Pages
829–830
Identifiers
PMID: 11198505
Source
Medline
License
Unknown

Abstract

We report a pedigree with severe X-linked neuropathy that occurs in male infants and results in death, typically by 2 years of age. The proband of our report was weak with preserved mentation. He underwent extensive evaluation, which revealed abnormal nerve conduction studies, neurogenic changes on muscle biopsy, a decreased number of large myelinated fibers and rare onion bulb formations on nerve biopsy, negative gene testing for spinal muscular atrophy, CMT1a, and CMTX1 and a normal brain magnetic resonance image. The proband's mother, an obligate carrier, had normal nerve conduction studies. Male infants with a spinal muscular atrophy phenotype but normal genetic studies should be evaluated for this fatal X-linked neuropathy.

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