Takahashi K, Saitoh M, Hoshino H, Mimaki M, Yokoyama Y, Takamizawa M, Mizuguchi M, Lin Z-M, Yang Y, Igarashi T
Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
Neuropediatrics. 2007 Jun;38(3):157-9. doi: 10.1055/s-2007-990265.
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.
原发性红斑性肢痛症是一种罕见的神经病变，其特征是肢体在受到温暖刺激时会发作灼痛和发红。我们在此描述一名患有红斑性肢痛症的男孩，其疼痛发作始于婴儿期。我们发现了SCN9A基因的一种新突变，在该病例中此基因是原发性红斑性肢痛症的致病基因。在他十几岁时，他出现了冬季体温过低，导致神经功能障碍和反复肺炎。在肺炎病程中，他出现了短暂性脑病，胼胝体压部有可逆性病变。除了过度冷却外，中枢体温调节缺陷可能导致了该患者的体温过低。
