BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) is an exceedingly rare, hereditary, sensory autonomic neuropathy (HSAN). AIM: To evaluate the various skeletal manifestations and cranial CT features in children affected by CIPA. MATERIALS AND METHODS: In the semidesert area of the Negev, the Bedouin tribes constitute a closed society where consanguineous marriages are the custom. 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 Bedouin patients, 12 girls and 8 boys, ages ranging between 1 month and 8 years, were retrospectively analysed. Cranial CT scans were performed in ten children because of neonatal hypotonia and psychomotor retardation. The skeletal findings were classified as follows: fractures, joint deformities, joint dislocations, osteomyelitis, avascular necrosis and acro-osteolysis. RESULTS: All 20 patients had fractures of the extremities and acro-osteolysis of the fingers. Six had joint deformities. Three children had recurrent hip joint dislocations and another three had avascular necrosis. Ten patients presented with osteomyelitis of the limbs, acetabulum and scapula. The cranial CT scans disclosed mild brain volume loss with some ventriculomegaly. CONCLUSIONS: CIPA is a severe autosomal recessive condition that leads to self-mutilation early in life and to fractures, osteomyelitis and limb amputation in older children. Mental retardation is common. Death from hyperpyrexia occurs in almost 20 % of patients in the first 3 years of life.
BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) is an exceedingly rare, hereditary, sensory autonomic neuropathy (HSAN). AIM: To evaluate the various skeletal manifestations and cranial CT features in children affected by CIPA. MATERIALS AND METHODS: In the semidesert area of the Negev, the Bedouin tribes constitute a closed society where consanguineous marriages are the custom. 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 Bedouin patients, 12 girls and 8 boys, ages ranging between 1 month and 8 years, were retrospectively analysed. Cranial CT scans were performed in ten children because of neonatal hypotonia and psychomotor retardation. The skeletal findings were classified as follows: fractures, joint deformities, joint dislocations, osteomyelitis, avascular necrosis and acro-osteolysis. RESULTS: All 20 patients had fractures of the extremities and acro-osteolysis of the fingers. Six had joint deformities. Three children had recurrent hip joint dislocations and another three had avascular necrosis. Ten patients presented with osteomyelitis of the limbs, acetabulum and scapula. The cranial CT scans disclosed mild brain volume loss with some ventriculomegaly. CONCLUSIONS: CIPA is a severe autosomal recessive condition that leads to self-mutilation early in life and to fractures, osteomyelitis and limb amputation in older children. Mental retardation is common. Death from hyperpyrexia occurs in almost 20 % of patients in the first 3 years of life.
Authors: Jose A Caparros-Martin; Mona S Aglan; Samia Temtamy; Ghada A Otaify; Maria Valencia; Julián Nevado; Elena Vallespin; Angela Del Pozo; Carmen Prior de Castro; Lucia Calatrava-Ferreras; Pilar Gutierrez; Ana M Bueno; Belen Sagastizabal; Encarna Guillen-Navarro; Maria Ballesta-Martinez; Vanesa Gonzalez; Sarenur Y Basaran; Ruksan Buyukoglan; Bilge Sarikepe; Cecilia Espinoza-Valdez; Francisco Cammarata-Scalisi; Victor Martinez-Glez; Karen E Heath; Pablo Lapunzina; Victor L Ruiz-Perez Journal: Mol Genet Genomic Med Date: 2016-12-20 Impact factor: 2.183