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 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.
Kim
J S
JS
Department of Pediatrics, Chonnam National University Medical School, Kwangju, Korea. kimjs21@hitel.net
Woo
Y J
YJ
Kim
G M
GM
Kim
C J
CJ
Ma
J S
JS
Hwang
T J
TJ
Lee
M C
MC
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