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DOI: 10.1055/s-2007-990265
© Georg Thieme Verlag KG Stuttgart · New York
A Case of Primary Erythermalgia, Wintry Hypothermia and Encephalopathy
Publication History
received 11. 04. 2007
Accepted 09. 08. 2007
Publication Date:
05 November 2007 (online)
Abstract
Primary erythermalgia is a rare neuropathy characterized by attacks of burning pain and redness in the extremities in response to warm stimuli. We describe here a boy with erythermalgia whose painful attacks began in infancy. We found a novel mutation of SCN9A, which is a responsible gene for primary erythermalgia in this case. In his teens, he developed wintry hypothermia with resultant neurological dysfunction and recurrent pneumonia. During the course of pneumonia, he had transient encephalopaty with a reversible lesion in the splenium of the corpus callosum. In addition to excessive cooling, a defect in central thermoregulation may have caused hypothermia in this patient.
Key words
erythermalgia - hypothermia - acute encephalopathy - corpus callosum
References
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Correspondence
M. SaitohMD
Department of Pediatrics
Faculty of Medicine
University of Tokyo
Hongo 7-3-1
Bunkyo-ku
113-8655 Tokyo
Japan
Phone: +81/3/5841 23615
Fax: +81/3/3816 41 08
Email: makisaito-tky@umin.ac.jp