J Korean Med Sci. 1999 Aug;14(4):460-464. English.
Published online Jun 19, 2009.
https://doi.org/10.3346/jkms.1999.14.4.460
Published online Jun 19, 2009.
https://doi.org/10.3346/jkms.1999.14.4.460
Copyright © 1999 The Korean Academy of Medical Sciences
Case Report
Congenital insensitivity to pain with anhidrosis: a case report
Joon Sung Kim,
Young Jong Woo,
Geun Mo Kim,
Chan Jong Kim,
Jae Sook Ma,
Tai Ju Hwang
and Min Cheol Lee
Abstract
Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.
Keywords
Pain insensitivity, congenital; Hypohidrosis; Sural nerve
MeSH Terms
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