Congenital insensitivity to pain with anhidrosis: a case report

J Korean Med Sci. 1999 Aug;14(4):460-4. doi: 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.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Fingers
  • Humans
  • Hypohidrosis / complications
  • Hypohidrosis / pathology*
  • Infant
  • Intellectual Disability / complications
  • Intellectual Disability / pathology
  • Korea
  • Male
  • Microscopy, Electron
  • Nerve Fibers / pathology
  • Nerve Fibers / ultrastructure
  • Pain Insensitivity, Congenital / complications
  • Pain Insensitivity, Congenital / pathology*
  • Self Mutilation / etiology
  • Self Mutilation / pathology
  • Sural Nerve / pathology
  • Tongue