Abstract :
Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensoryautonomic neuropathies type IV (HSAN type IV) is an extremely rare autosomalrecessive disorder initially described by Swanson in 1963.We report a 2.5-year-old boy with clinical features of CIPA as the first case in Iran.The symptoms included recurrent episodes of hyperthermia and unexplainedfever that began in early infancy, anhidrosis (inability to sweat), profound lossof pain sensitivity, neurodevelopmental delay, unconscious self-mutilation offingers, lips and tongue, corneal lacerations, palmar hyperkeratosis, non-painfulfracture and joint deformities in the right ankle. Tearing, deep tendon reflexesand motor and sensory nerve action potentials were normal.Prenatal screening is the sole accessible option to prevent the birth of anaffected child as no cure is available. Early recognition of CIPA patients and itsorthopedic complications, prevention of accidental injuries, regular visual andeye follow-up and specific dental management could be useful in the reductionof frequency and severity of complications.
