[tri-med] FYI - Congenital insensitivity to pain with anhidrosis

I am forwarding this article or URL for your information (FYI) as I believe
it may be of interest and is from a reliable source. As always, check the
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or changing any treatments.

Pediatric Radiology
ISSN: 0301-0449 (printed version)
ISSN: 1432-1998 (electronic version)

Table of Contents

Abstract Volume 31 Issue 10 (2001) pp 701-705

Congenital insensitivity to pain with anhidrosis (CIPA): the spectrum of 
radiological findings
H. Schulman (1), Vadim Tsodikow (1), Menahem Einhorn (2), Yakov Levy (2), Zamir 
Shorer (2), Yancu Hertzanu (1)


(1) Department of Radiology, Soroka University Medical Centre, Ben-Gurion 
University of the Negev, P. O. Box 151, Beer-Sheva 84101,
Israel
(2) Department of Pediatrics, Soroka University Medical Centre, Ben-Gurion 
University of the Negev, Beer-Sheva, Israel


Received: 25 January 2000 Revised: 31 October 2000 Accepted: 20 November 2000

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 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.


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