Congenital insensitivity to pain with anhidrosis: a case report.
10.3346/jkms.1999.14.4.460
- Author:
Joon Sung KIM
1
;
Young Jong WOO
;
Geun Mo KIM
;
Chan Jong KIM
;
Jae Sook MA
;
Tai Ju HWANG
;
Min Cheol LEE
Author Information
1. Department of Pediatrics, Chonnam National University Medical School, Kwangju, Korea. kimjs21@hitel.net
- Publication Type:Case Report
- Keywords:
Pain insensitivity, congenital;
Hypohidrosis;
Sural nerve
- MeSH:
Atrophy;
Case Report;
Fingers;
Human;
Hypohidrosis/pathology*;
Hypohidrosis/complications;
Infant;
Korea;
Male;
Mental Retardation/pathology;
Mental Retardation/complications;
Microscopy, Electron;
Nerve Fibers/ultrastructure;
Nerve Fibers/pathology;
Pain Insensitivity, Congenital/pathology*;
Pain Insensitivity, Congenital/complications;
Self Mutilation/pathology;
Self Mutilation/etiology;
Sural Nerve/pathology;
Tongue
- From:Journal of Korean Medical Science
1999;14(4):460-464
- CountryRepublic of Korea
- Language:English
-
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.
