Fatal infantile X-linked neuropathy

E. Sekul, J. E. Carroll, F. Yaghmai, D. L. Armstrong, W. K. Seltzer

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)829-830
Number of pages2
JournalJournal of Child Neurology
Volume15
Issue number12
DOIs
StatePublished - Jan 1 2000

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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  • Cite this

    Sekul, E., Carroll, J. E., Yaghmai, F., Armstrong, D. L., & Seltzer, W. K. (2000). Fatal infantile X-linked neuropathy. Journal of Child Neurology, 15(12), 829-830. https://doi.org/10.1177/088307380001501217