Klempír Jirí, Roth Jan, Zárubová Katerina, Písacka Martin, Spacková Natasa, Tilley Louise
Department of Neurology, 1st Medical Faculty, Charles University, Katerinská 30, 12000 Prague 2, Czech Republic.
Parkinsonism Relat Disord. 2008;14(4):364-6. doi: 10.1016/j.parkreldis.2007.07.011. Epub 2007 Sep 17.
A 45-year-old man developed chorea, behavioural changes, moderate amyotrophy and polyneuropathy. Hypertrophic cardiomyopathy and increased serum lactate dehydrogenase and creatine kinase (CK) were found. Acanthocytes were not detected. The absence of XK protein and faintly expressed Kell antigens on erythrocytes were found. Genetic test revealed a R133X mutation of the XK gene, confirming the McLeod syndrome. After 7 years he suddenly developed delirium followed by severe hypoglycaemia, hyperthermia, rhabdomyolysis, hepatic and renal failure. Malignant arrhythmia caused death.
一名45岁男性出现舞蹈症、行为改变、中度肌萎缩和多发性神经病。发现肥厚型心肌病以及血清乳酸脱氢酶和肌酸激酶（CK）升高。未检测到棘红细胞。发现红细胞上缺乏XK蛋白且凯尔抗原表达微弱。基因检测显示XK基因存在R133X突变，确诊为麦克劳德综合征。7年后，他突然出现谵妄，随后发生严重低血糖、高热、横纹肌溶解、肝肾功能衰竭。恶性心律失常导致死亡。
