The McLeod syndrome without acanthocytes

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• 作者：Jiř ; í ; Klempí ; ř ; Jan Roth ; Kateř ; ina Zá ; rubová ; Martin Pí ; sač ; ka ; Nataš ; a Š ; pač ; ková ; Louise Tilley
• 关键词：McLeod syndrome ; Acanthocytosis ; Chorea ; Behavioural changes ; Caudate atrophy
• 刊名：Parkinsonism and Related Disorders
• 出版年：2008
• 出版时间：May 2008
• 年：2008
• 卷：14
• 期：4
• 页码：364-366
• 全文大小：92 K

文摘

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.