Tan Timothy Xin Zhong, Lim Kheng Choon, Chan Chung Charles, Aung Than
Department of Emergency Medicine, Singapore General Hospital, Singapore.
Department of Radiology, Singapore General Hospital, Singapore.
BMJ Case Rep. 2019 Jan 3;12(1):e227412. doi: 10.1136/bcr-2018-227412.
A 56-year-old teetotaller man with hypertension and gout presented with a week duration of painless worsening diplopia on a background of loss of weight and appetite, generalised lethargy and weakness for 1 year. On examination, he was noted to be hypothermic and tachycardic with generalised muscle wasting. Proximal myopathy, lower limb fasciculations and areflexia, restricted bilateral eye abduction and nystagmus were observed. Blood investigations demonstrated compensated lactic acidosis, acute kidney injury and leucocytosis. A nerve conduction study showed severe length-dependent axonal sensorimotor polyneuropathy. This was a diagnostic dilemma until an MRI brain revealed symmetrical signal abnormality and enhancement in the periaqueductal area indicative of Wernicke's encephalopathy, caused by thiamine deficiency from poor nutrition. Beriberi, also caused by thiamine deficiency, accounted for his tachycardia, polyneuropathy, areflexia, hypothermia and biochemical abnormalities. Both beriberi and Wernicke's encephalopathy are medical emergencies, which were treated with intravenous thiamine to good effect.
一名56岁的男性,无饮酒史,患有高血压和痛风,在体重减轻、食欲减退、全身乏力和虚弱1年的背景下,出现了为期一周的无痛性复视加重。检查时,发现他体温过低、心动过速,伴有全身肌肉萎缩。观察到近端肌病、下肢肌束震颤和反射消失、双侧眼球外展受限和眼球震颤。血液检查显示代偿性乳酸酸中毒、急性肾损伤和白细胞增多。神经传导研究显示严重的长度依赖性轴索性感觉运动性多发性神经病。在MRI脑部检查显示中脑导水管周围区域出现对称信号异常和强化,提示韦尼克脑病之前,这一直是一个诊断难题,韦尼克脑病是由营养不良导致的硫胺素缺乏引起的。脚气病也是由硫胺素缺乏引起的,导致了他的心动过速、多发性神经病、反射消失、体温过低和生化异常。脚气病和韦尼克脑病都是医疗急症,通过静脉注射硫胺素治疗后效果良好。