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Fatal Infantile X-Linked Neuropathy

Departments of Neurology and Pediatrics

James E. Carroll, MD

Departments of Neurology and Pediatrics

Farivar Yaghmai, MD

Department of Pathology Medical College of Georgia Augusta, Georgia

Dawna L. Armstrong, MD

Department of Pathology Texas Children's Hospital Houston, Texas

William K. Seltzer, PhD, FACMG

Athena Diagnostics, Inc. Worcester, Massachusetts

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. (J Child Neurol 2000; 15:829-830).

Journal of Child Neurology, Vol. 15, No. 12, 829-830 (2000)
DOI: 10.1177/088307380001501217


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