Congenital Insensitivity to Pain with Anhidrosis


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A neurologic disorder characterised by impaired nociception with intact cognition and sensation including discriminative touch. While these patients may be mildly retarded, there are no detectable physical abnormalities. Children with CIPA often bite their tongues, suffer corneal damage and may be unaware of fractures
Aetiology Some cases are due to excessive endophin production for which naloxone may be effective. In others, one of several loss-of-function mutations have been identified in the voltage-gated sodium channel SCN9A, preventing forward propagation of nociceptive information to the brain. While it is very rare, CIPA is more common in consanguineous populations including one cohort in northern Sweden and another in Ashkenazi Jews
References in periodicals archive ?
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
Intrasinus wood foreign body causing orbital cellulitis in congenital insensitivity to pain with anhidrosis.
In patients with congenital insensitivity to pain with anhidrosis, oral lesions, tissue loss in the fingers, tongue and lips, wound site infection, acute and chronic osteomyelitis, finger amputations and joint abnormalities are frequently found because of self harm behavior (1).
Findings including hypotonia, absence of deep tendon reflexes or decreased deep tendon reflexes are expected in patients with congenital insensitivity to pain with anhidrosis (1).

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