Mutilating hand syndrome in an infant with familial carpal tunnel syndrome

Muscle & Nerve
K J SwobodaH R Jones

Abstract

A 7-month-old infant, son of consanguinous Indian parents, presented with recurrent chewing of his digits in a median nerve distribution as the primary manifestation of carpal tunnel syndrome, in conjunction with features consistent with congenital insensitivity to pain. Electromyography (EMG) demonstrated severe median nerve entrapment at the wrist bilaterally, but other nerves were normal. In spite of clinical evidence of diffuse pain insensitivity, sural nerve and skin biopsies were normal, and he had no evidence of autonomic dysfunction. Hand findings evolved with scarring and infection of median innervated digits and loss of fine motor skills. Carpal tunnel release resulted in complete clinical resolution and significant EMG improvement. Milder symptoms and EMG evidence of median nerve entrapment were demonstrated in both parents, paternal grandparents, and several of his father's siblings. We hypothesize this child may be homozygous for a mutant allele that in its heterozygous state predisposes to familial autosomal dominant carpal tunnel syndrome. Homozygosity for this or another mutant allele may be responsible for his congenital insensitivity to pain.

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Citations

Apr 29, 2011·The Journal of Clinical Endocrinology and Metabolism·Andrew W JosephEmily L Germain-Lee
Sep 4, 2012·The Journal of Hand Surgery·Anselm Harry WongH Kirk Watson
Feb 3, 2011·Journal of Child Neurology·Ahmad MohamedAndrew Kornberg
Sep 14, 2018·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Javier Robla CostalesDavid Robla Costales
Dec 4, 2004·Journal of Pediatric Orthopedics. Part B·Nathalie Van Meir, Luc De Smet

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