Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases
Case 3: An 8-year-old girl was referred to the pediatric department of Imam Khomeini Hospital because of fever, severe edema of right leg, inflammation and purulent discharge from the fistula in both legs especially right foot. She was mentally retarded and hit her heel onto the ground without any sensation of pain. She did not respond to any painful stimuli or heat shock, but could feel pressure and touch. There were some scars on her skin on different sites of the body which were, according to her parents, heat scars. Hands and fingers showed signs of biting. Because of chronic osteomyelitis, debridement of infectious site was performed and antibiotics administered several times. An EMG-NCV revealed a small fiber disturbance and low amplitude of SNAPS due to a skin problem. Immune tests, viral markers, blood gas and uric acid level were normal. She had no abnormality in ocular system. The EEG was mildly abnormal, and she was treated by antiepileptic drugs.\nA Family history revealed that her parents were cousins, and she was the fourth child of this family with other children being normal. She had a history of recurrent seizures which were treated as a metabolic disease since she was 4 months old for 4 years but there was no efficacy ().