Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases
Case 1: A 12 year old boy presented with chronic osteomyelitis. He was the fifth child of a consanguineous Iranian couple. In his birth history he had low Apgar score. There was no familial or hereditary disease in the family. Pregnancy was normal. He had several hospitalizations because of fever, seizure, heel sores and osteomyelitis (). He had no reaction to pain and could not feel pain or heat. Brain CT scan and lumbar puncture findings were normal. Metabolic and TORCH study were negative. He is mentally retarded. The electromyography and nerve conduction velocity (EMG and NCV) were normal. The immune tests (complements, nitroblautetrazolium (NBT) test, immune globulins) and viral markers such as HBV, HCV and HIV tests, blood gas and serum uric acid were all normal.\nThis patient was referred to us to control the infection of hill sore (an ulceration measuring 10mm×10mm). We did our best to control the infection by administering appropriate antibiotics and by the debridement of necrotic tissues to avoid limb amputation and to keep his quality of life as good as possible. He had also massive osteolysis in his mandible in which attemts were made for appropriate dental procedures. Obvious, self-mutilation, especially in his finger tips was observed. Radiographies also revealed osteolysis in his digit rum (). The other sites such as lung, heart, abdomen and eyes were normal in physical examination.