Congenital insensitivity to pain with anhidrosis (CIPA): the spectrum of radiological findings

Background. Congenital insensitivity to pain with anhidrosis (CIPA) is an e xceedingly rare, hereditary, sensory autonomic neuropathy (HSAN). Aim. To evaluate the various skeletal manifestations and cranial CT feature s in children affected by CIPA. Materials and methods. In the semidesert area of the Negev, the Bedouin tri bes constitute a closed society where consanguineous marriages are the cust om. This has resulted in a group of 20 children being affected by this rare autosomal recessive HSAN. The skeletal surveys and CT scans of these 20 Be douin patients, 12 girls and 8 boys, ages ranging between 1 month and 8 yea rs, were retrospectively analysed. Cranial CT scans were performed in ten c hildren because of neonatal hypotonia and psychomotor retardation. The skel etal findings were classified as follows: fractures, joint deformities, joi nt dislocations, osteomyelitis, avascular necrosis and acro-osteolysis. Results. All 20 patients had fractures of the extremities and acro-osteolys is of the fingers. Six had joint deformities. Three children had recurrent hip joint dislocations and another three had avascular necrosis. Ten patien ts presented with osteomyelitis of the limbs, acetabulum and scapula. The c ranial CT scans disclosed mild brain volume loss with some ventriculomegaly . Conclusions. CIPA is a severe autosomal recessive condition that leads to s elf-mutilation early in life and to fractures, osteomyelitis and limb amput ation in older children. Mental retardation is common. Death from hyperpyre xia occurs in almost 20% of patients in the first 3 years of life.