title: Fatal infantile X-linked neuropathy.
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.
authors.affiliation: Department of Neurology, Medical College of Georgia, Augusta 30912, USA. esekul@neuro.mcg.edu
authors.forename: E
authors.initials: E
authors.lastname: Sekul
authors.forename: J E
authors.initials: JE
authors.lastname: Carroll
authors.forename: F
authors.initials: F
authors.lastname: Yaghmai
authors.forename: D L
authors.initials: DL
authors.lastname: Armstrong
authors.forename: W K
authors.initials: WK
authors.lastname: Seltzer
mesh_terms: D000328:Adult; D001284:Atrophy; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D018908:Muscle Weakness / Q000209:etiology*; D018482:Muscle, Skeletal / Q000473:pathology*; D009422:Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D009431:Neural Conduction; D010375:Pedigree; D010641:Phenotype; D014960:X Chromosome / Q000235:genetics*