J Korean Med Sci.  1999 Aug;14(4):460-464. 10.3346/jkms.1999.14.4.460.

Congenital insensitivity to pain with anhidrosis: a case report

• Kim JS
• Woo YJ
• Kim GM
• Kim CJ
• Ma JS
• Hwang TJ
• Lee MC

• KMID: 1731324
• DOI: http://doi.org/10.3346/jkms.1999.14.4.460

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.

Keyword

Pain insensitivity, congenital; Hypohidrosis; Sural nerve

MeSH Terms

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