Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases
Case 2: A 13 year old girl was referred to our department because of purulent discharge from a deep sore in the talus and calcaneus of her right foot with history of recurrent osteomyelitis from the first months of life. She suffered from the absence of normal reaction to painful stimuli or heat. She occasionally had hyperthermia, and convulsions, high fever with abnormal electroencephalogram (EEG) and received anticonvulsant drugs. There was no family history of special or hereditary diseases. She was the second child of related (first cousins) parents. EMG-NCV, and immune tests were normal, and viral markers negative. The patient had first experienced osteomyelitis when she was 3 years old in her buttocks and lumbar sites. Her last hospitalization was because of a resistant infection which did not respond to different antibiotics during the 3 preceding months. Because of a harmful deformity in her heel and ineffective antibiotics, after an orthopedic consult, an amputation was performed (). Three weeks after the amputation, however, she came back with massive cellulitis in the site of surgery which progressed to the knee but she didn't feel any pain. Our case had also significant mandibular lysis and dental laisions. She was mentally retarded. Osteolysis on her fingertips was seen, but there was no sign of ocular disturbance ().