TY - JOUR
T1 - Fatal infantile X-linked neuropathy
AU - Sekul, E.
AU - Carroll, J. E.
AU - Yaghmai, F.
AU - Armstrong, D. L.
AU - Seltzer, W. K.
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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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U2 - 10.1177/088307380001501217
DO - 10.1177/088307380001501217
M3 - Article
C2 - 11198505
AN - SCOPUS:0034488549
SN - 0883-0738
VL - 15
SP - 829
EP - 830
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 12
ER -