title: A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA).
abstract: Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory autonomic neuropathies type IV (HSAN type IV) is an extremely rare autosomal recessive 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 unexplained fever that began in early infancy, anhidrosis (inability to sweat), profound loss of pain sensitivity, neurodevelopmental delay, unconscious self-mutilation of fingers, lips and tongue, corneal lacerations, palmar hyperkeratosis, non-painful fracture and joint deformities in the right ankle. Tearing, deep tendon reflexes and motor and sensory nerve action potentials were normal. Prenatal screening is the sole accessible option to prevent the birth of an affected child as no cure is available. Early recognition of CIPA patients and its orthopedic complications, prevention of accidental injuries, regular visual and eye follow-up and specific dental management could be useful in the reduction of frequency and severity of complications.
authors.affiliation: Associate Professor of Pediatrics, Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Mehran
authors.initials: M
authors.lastname: Karimi
authors.affiliation: Associate Professor of Pediatric Neurology, Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Razieh
authors.initials: R
authors.lastname: Fa Llah
keywords: Anhidrosis; Congenital insensitivity to pain; HSAN type IV