Fatal infantile X-linked neuropathy

Elizabeth Sekul, James Edwin 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

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Spinal Muscular Atrophy
Neural Conduction
Biopsy
Onions
Pedigree
Magnetic Resonance Spectroscopy
Mothers
Phenotype
Muscles
Brain
Genes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Fatal infantile X-linked neuropathy. / Sekul, Elizabeth; Carroll, James Edwin; Yaghmai, F.; Armstrong, D. L.; Seltzer, W. K.

In: Journal of Child Neurology, Vol. 15, No. 12, 01.01.2000, p. 829-830.

Research output: Contribution to journalArticle

Sekul, E, Carroll, JE, Yaghmai, F, Armstrong, DL & Seltzer, WK 2000, 'Fatal infantile X-linked neuropathy', Journal of Child Neurology, vol. 15, no. 12, pp. 829-830. https://doi.org/10.1177/088307380001501217
Sekul, Elizabeth ; Carroll, James Edwin ; Yaghmai, F. ; Armstrong, D. L. ; Seltzer, W. K. / Fatal infantile X-linked neuropathy. In: Journal of Child Neurology. 2000 ; Vol. 15, No. 12. pp. 829-830.
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