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Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   SUMMER 2012 , Volume 6 , Number 3; Page(s) 45 To 48.
 
Paper: 

A CASE REPORT OF CONGENITAL INSENSITIVITY TO PAIN AND ANHIDROSIS (CIPA)

 
 
Author(s):  KARIMI MEHRAN, FALLAH RAZIEH*
 
* SHAHID SADOUGHI HOSPITAL, AVESINA BLVD, SHAHID GHANDI BLVD, YAZD, IRAN
 
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.

 
Keyword(s): HSAN TYPE IV, CONGENITAL INSENSITIVITY TO PAIN, ANHIDROSIS
 
References: 
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