Congenital insensitivity to pain with anhidrosis (CIPA): the spectrum of radiological findings.
BACKGROUND
Congenital insensitivity to pain with anhidrosis (CIPA) is an exceedingly rare, hereditary, sensory autonomic neuropathy (HSAN).


OBJECTIVE
To evaluate the various skeletal manifestations and cranial CT features in children affected by CIPA.


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.
Schulman
H
H
Department of Radiology, Soroka University Medical Centre, Ben-Gurion University of the Negev, P. O. Box 151, Beer-Sheva 84101, Israel.
Tsodikow
V
V
Einhorn
M
M
Levy
Y
Y
Shorer
Z
Z
Hertzanu
Y
Y
D018912:Arabs / Q000235:genetics; D001847:Bone Diseases / Q000000981:diagnostic imaging*; D001842:Bone and Bones / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D050723:Fractures, Bone / Q000000981:diagnostic imaging; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007223:Infant; D007557:Israel; D004204:Joint Dislocations / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D012189:Retrospective Studies