目的 分析肝豆状核变性(Wilson disease,WD)并发肌张力障碍持续状态(status dystonicus,SD)患者的临床特点.方法 回顾性分析15例WD并发SD患者的临床特征、重要辅助检查、治疗及转归.结果 患者均表现为严重的全身型肌张力障碍发作,其中强直型13例,相位型2例.14例伴吞咽障碍、呼吸功能障碍、疼痛和虚脱.WD患者发生SD的主要诱因是铜螯合剂和感染.患者血肌酸激酶(creatine kinase,CK)显著升高,脑MRI呈对称性豆状核,中脑、丘脑和桥脑异常信号伴脑萎缩.患者均在支持和对症治疗基础上,积极寻找和去除诱因,予适度镇静和麻醉,调整特异性抗肌张力障碍方案.随访有效4例,无效10例,死亡1例,总体预后不佳.结论 WD是导致SD的重要潜在病因之一.WD并发SD的临床特征是原有肌张力障碍异常运动和姿势的严重恶化,可伴多种内环境紊乱并发症.虽然及早治疗可终止发作,但本病复发率高,远期结局仍差.

Krabbe disease (KD), also known as globoid cell leukodystrophy, is a rare autosomal recessive condition caused by mutations in the galactocerebrosidase (GALC) gene. KD is more common in infants and young children than in adults. We reported the case of an adult-onset KD presenting with progressive myoclonic epilepsy (PME) and cortical lesions mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. The whole-exome sequencing (WES) identified a pathogenic homozygous missense mutation of the GALC gene. Parents of the patient were heterozygous for the mutation. The clinical, electrophysiological, and radiological data of the patient were retrospectively analyzed. The patient was a 24-year-old woman presenting with generalized seizures, progressive cognitive decline, psychiatric symptoms, gait ataxia, and action-induced myoclonus. The brain magnetic resonance imaging (MRI) revealed a right occipital cortical ribbon sign without any other damage. This single case expands the clinical phenotypes of adult-onset KD.

O'Sullivan-Mcleod syndrome is a very rare variant of MND with a good prognosis. Its clinical feature is distal lower motor neuron syndrome of both upper limbs, and there is no effective treatment at present. We reported a case of O'Sullivan-Mcleod syndrome in this paper.The patient exhibited with middle-aged progressive distal muscle weakness and atrophy of both upper limbs, without sensory, cognitive or behavioral impairment and without pyramidal tract sign. Laboratory examination, imaging and genetic tests showed no obvious abnormalities. EMG revealed neurogenic damage to the small muscles of both hands. Now we retrospectively analyzed the clinical features of a patient with O'Sullivan-McLeod syndrome, and data from 18 cases for comparative analysis, in order to improve its understanding by clinicians.

目的 分析以精神障碍为首发症状的肝豆状核变性(Wilson病,WD)病人的临床特点.方法 回顾性分析24例以精神障碍为首发症状并最终确诊为WD的病人临床资料.结果 本组24例中最常见的精神障碍为情绪障碍,其中焦虑障碍15例(62.50％),且多伴角膜色素环(K-F环),24例(100.00％)均检查出角膜K-F环.病人发病前无明显诱因16例(66.67％),误诊20例(83.33％),误诊率高,故就诊时实验室检查及影像学检查结果多已显示铜代谢异常及相关内脏受损.实验室检查可见血清铜蓝蛋白<200 mg/L者22例(91.67％),行头颅核磁共振(MRI)扫描14例中9例异常(64.29％),24例(100.00％)B超均示不同程度的肝实质异常声像改变.临床上予以驱铜、护肝、对症及中药治疗为主,其中23例(95.83％)有效.结论 肝豆状核变性病人以精神障碍为首发者较少.此类病人精神症状明显,易掩盖其他症状、体征,临床医生应进行详细的神经科查体并完善相关检查,以减少误诊、漏诊率.

目的:介绍陈怀珍教授治疗顽固性带状疱疹后遗神经痛临床经验.方法:通过长期随诊及验案的收集与整理,学习和总结出陈怀珍教授治疗顽固性带状疱疹后遗神经痛的学术观点和临证经验.结果:陈怀珍教授认为,顽固性带状疱疹后遗神经痛的病机多属本虚标实,辨证着眼于“虚”“痰”“瘀”“郁”4字,并结合辨病位遣方用药,治疗上扶正与祛邪并举.结论:陈怀珍教授治疗顽固性带状疱疹后遗神经痛临床疗效显著,其临证经验值得学习和推广使用.

药对系用相辅相成或相反相成的两味药配伍使用以增强疗效.蔡永亮教授临证数十载,擅长运用自拟解郁方加减治疗失眠,并根据患者的自身病机特点予以辨证后加入药对治疗,效果显著.论文对蔡永亮教授治疗失眠常用药对经验进行了总结,对临床应用有一定的指导作用.