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Mutilating hand syndrome in an infant with familial carpal tunnel syndrome
K J Swoboda1, E C Engle, B Scheindlin
1Lahey Hitchcock Medical Center, Burlington, Massachusetts, USA.
Insights
A rare case of congenital insensitivity to pain in an infant was linked to severe bilateral carpal tunnel syndrome. Surgical release improved symptoms, suggesting a potential genetic link to familial carpal tunnel syndrome.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Congenital insensitivity to pain (CIP) is a rare condition characterized by the inability to feel physical pain.
- Carpal tunnel syndrome (CTS) involves median nerve compression at the wrist, causing pain, numbness, and tingling.
- Consanguinity increases the risk of autosomal recessive genetic disorders.
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.