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作者报告2例在临床确诊5年后又出现肌阵挛发作的成人 Huntington 病(HD)患者。例1男性,28岁时因痴呆、舞蹈样动作和阳性家族史被诊断为 HD.神经心理学检查智商72。正电子发射断层扫描(PET)显示尾状核代谢降低。血浆铜蓝蛋白、血清和尿铜含量、脑电图(EEG)、头颅CT、脑脊液分析正常。5年后出现频繁的全身肌阵挛发作,表现为涉及到躯干肌群的短暂、迅速的不自主跳动样收缩,无意识丧失,活动时加重。苄托品甲磺酸盐和氟哌啶
The authors report 2 adult Huntington’s disease (HD) patients who developed myoclonic seizures 5 years after their clinical diagnosis. Example 1 Male, diagnosed as HD due to dementia, dance-like movements and positive family history at age 28 Neuropsychological test IQ 72. Positron emission tomography (PET) showed a decrease in caudate nucleus metabolism. Plasma ceruloplasmin, serum and urinary copper levels, electroencephalogram (EEG), head CT, cerebrospinal fluid analysis were normal. 5 years after the frequent occurrence of systemic myoclonic seizures, manifested as involving the trunk muscles transient, rapid involuntary jerk-like contraction, unconscious loss, increased activity. Benzyl methanesulfonate and haloperidol