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

H. Schulman, Vadim Tsodikow, Menahem Einhorn, Yakov Levy, Zamir Shorer, Yancu Hertzanu

Research output: Contribution to journalArticlepeer-review

35 Scopus citations

Abstract

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 semi-desert 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.

Original languageEnglish
Pages (from-to)701-705
Number of pages5
JournalPediatric Radiology
Volume31
Issue number10
DOIs
StatePublished - 1 Jan 2001
Externally publishedYes

Fingerprint

Dive into the research topics of 'Congenital insensitivity to pain with anhidrosis (CIPA): The spectrum of radiological findings'. Together they form a unique fingerprint.

Cite this