Congenital insensitivity to pain with anhidrosis: a case report.

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 ret...

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Detalles Bibliográficos
Autores principales: Kim, J. S., Woo, Y. J., Kim, G. M., Kim, C. J., Ma, J. S., Hwang, T. J., Lee, M. C.
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 1999
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054407/
https://www.ncbi.nlm.nih.gov/pubmed/10485630
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author Kim, J. S.
Woo, Y. J.
Kim, G. M.
Kim, C. J.
Ma, J. S.
Hwang, T. J.
Lee, M. C.
author_facet Kim, J. S.
Woo, Y. J.
Kim, G. M.
Kim, C. J.
Ma, J. S.
Hwang, T. J.
Lee, M. C.
author_sort Kim, J. S.
collection PubMed
description 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.
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spelling pubmed-30544072011-03-15 Congenital insensitivity to pain with anhidrosis: a case report. Kim, J. S. Woo, Y. J. Kim, G. M. Kim, C. J. Ma, J. S. Hwang, T. J. Lee, M. C. J Korean Med Sci Research Article 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. Korean Academy of Medical Sciences 1999-08 /pmc/articles/PMC3054407/ /pubmed/10485630 Text en
spellingShingle Research Article
Kim, J. S.
Woo, Y. J.
Kim, G. M.
Kim, C. J.
Ma, J. S.
Hwang, T. J.
Lee, M. C.
Congenital insensitivity to pain with anhidrosis: a case report.
title Congenital insensitivity to pain with anhidrosis: a case report.
title_full Congenital insensitivity to pain with anhidrosis: a case report.
title_fullStr Congenital insensitivity to pain with anhidrosis: a case report.
title_full_unstemmed Congenital insensitivity to pain with anhidrosis: a case report.
title_short Congenital insensitivity to pain with anhidrosis: a case report.
title_sort congenital insensitivity to pain with anhidrosis: a case report.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054407/
https://www.ncbi.nlm.nih.gov/pubmed/10485630
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