1.Congenital insensitivity to pain with anhidrosis: a case report.
Joon Sung KIM ; Young Jong WOO ; Geun Mo KIM ; Chan Jong KIM ; Jae Sook MA ; Tai Ju HWANG ; Min Cheol LEE
Journal of Korean Medical Science 1999;14(4):460-464
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.
Atrophy
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Case Report
;
Fingers
;
Human
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Hypohidrosis/pathology*
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Hypohidrosis/complications
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Infant
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Korea
;
Male
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Mental Retardation/pathology
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Mental Retardation/complications
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Microscopy, Electron
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Nerve Fibers/ultrastructure
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Nerve Fibers/pathology
;
Pain Insensitivity, Congenital/pathology*
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Pain Insensitivity, Congenital/complications
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Self Mutilation/pathology
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Self Mutilation/etiology
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Sural Nerve/pathology
;
Tongue