title: Congenital insensitivity to pain with anhidrosis: a case report.
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.
authors.affiliation: Department of Pediatrics, Chonnam National University Medical School, Kwangju, Korea. kimjs21@hitel.net
authors.forename: J S
authors.initials: JS
authors.lastname: Kim
authors.forename: Y J
authors.initials: YJ
authors.lastname: Woo
authors.forename: G M
authors.initials: GM
authors.lastname: Kim
authors.forename: C J
authors.initials: CJ
authors.lastname: Kim
authors.forename: J S
authors.initials: JS
authors.lastname: Ma
authors.forename: T J
authors.initials: TJ
authors.lastname: Hwang
authors.forename: M C
authors.initials: MC
authors.lastname: Lee
mesh_terms: D001284:Atrophy; D005385:Fingers; D006801:Humans; D007007:Hypohidrosis / Q000150:complications / Q000473:pathology*; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000473:pathology; D007723:Korea; D008297:Male; D008854:Microscopy, Electron; D009412:Nerve Fibers / Q000473:pathology / Q000648:ultrastructure; D000699:Pain Insensitivity, Congenital / Q000150:complications / Q000473:pathology*; D012652:Self Mutilation / Q000209:etiology / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology; D014059:Tongue