Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases
Case 4: A 7 year old girl, the child of consanguineous (first cousins) parents, presented to the pediatrics department in Imam Khomeini Hospital 6 years ago with swelling and erythema in her right foot. Two siblings died at 2 and 3 years of age because of unknown reasons. She had a history of several episodes of osteomyelitis and gangrene of the right and left foot. Further, she had osteolytic lesions in her mandible and the vestibular epithelium of the mandible was destroyed. She was advised to do bone graft surgery. All of her teeth fell out when she was 3 years old, and she had total alopecia from 6th month of age. She also had history of recurrent fever, respiratory infection, cellulitis and osteomyelitis. The disease was misdiagnosed as chronic granulomatous disease (CGD) and treated with intravenous immunoglobulin (IVIG). In this admission immunologic tests including complement, NBT, and electrophoresis of immunoglobulins were normal. Seven years ago she became a candidate of amputation of her foot, but as she didn't agree, so received a graft and pin. Now she developed irregularity in the physeal and epiphyseal plate in tibia and fibula and had fracture of epiphyseal plate. Intelligence test was normal.