Fatal infantile X-linked neuropathy.
J Child Neurol
; 15(12): 829-30, 2000 Dec.
Article
en En
| MEDLINE
| ID: mdl-11198505
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosoma X
/
Músculo Esquelético
/
Debilidad Muscular
/
Enfermedades del Sistema Nervioso
Límite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Child Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2000
Tipo del documento:
Article
País de afiliación:
Estados Unidos