A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood

摘要: Objective: X-linked Charcot-Marie-Tooth disease (CMTX) is infrequently diagnosed in childhood, and its clinical neurophysiologic features are not well-described. We reviewed clinical, neurophysiologic, pathologic findings 17 children with CMTX. Methods: This was a retrospective review of CMTX from 2 tertiary pediatric hospitals. The diagnosis based on an identifiable connexin 32 mutation (CMTX1) or consistent pedigree without (CMTX-other). Results: Six boys girls 8 kindreds had CMTX1, 1 girl 5 other forms Fifteen children, including males carrier females, were symptomatic infancy early childhood (younger than years). In addition to the typical phenotype, some patients delayed motor development, sensorineural hearing loss, tremor, fractures, transient CNS disturbances. Eleven underwent nerve conduction studies. Median velocities intermediate normal range (30–54 m/s) all older years. Axon reflected by low-amplitude compound muscle action potentials, present patients. A pattern dominant inheritance, females showing abnormal neurologic examination, correlated presence but pedigrees. Conclusions: phenotype broader previously reported. Onset most often childhood. Families inheritance likely have CMTX1.