<正>强直性肌营养不良(Myotonic Dystrophy,DM)以肌强直、肌无力为重要临床特点,其跌倒症状未引起临床医生足够重视。本研究报道了1例无明显肌强直、肌无力,以跌倒发作为主诉的DM。1临床资料患者,男,36岁,因反复跌倒2年,于2012年6月21日就诊。无明显诱因突发跌倒,多则每天数次,少则每月1次,每次历时数秒,无意识障碍,很快自行站起并恢复正常,严重时可跌伤。曾就诊于多家医院,怀疑癫痫间、脑血管病等,反复

Objective To study the clinical features of paroxysmal sympathetic hyperactivity (PSH).Methods The clinical data,imaging and electroencephalography (EEG) of 10 patients with PSH was analyzed retrospectively.Results Of the 10 patients with PSH,9 were males and 1 was a female.The overall age of all the patients was (37.6 ± 19.1) years,ranging from 15 to 78 years.The primary diseases included traumatic brain injury 5 cases,intracranial hemorrhage 1 case,cerebral infarction 1 case,hypoxic ischemic encephalopathy 1 case,arachnoid cyst 1 case and cryptococcal meningoencephalitis 1 case.All patients developed at least 5 of 7 features which contained paroxysmal agitation,hyperthemia,diaphoresis,tachypnea,tachycardia,hypertension and dystonia.PSH occurred within 24 hours after brain injury in 3 patients; 24 hours to 3 weeks in 5 patients ; 5 months in 1 patient; 9 years in 1 patient.The frequency varied from one time in several days to several times in one day.The duration varied from 1 minute to 3 hours.The episodes in 4 patients occurred more often at night,1 around palinesthesia and the frequency of other 5 patients showed no differences between day and night.There were 2 cases appeared sober-minded,and the states of consciousness of the other 8 cases were hard to judge during PSH.The Glasgow Coma Scale scores of 8 cases were 3 to 8 points and the other 2 cases were 15 points.No epileptic-form activity was detected by EEG and no particular lesions were responsible.Neuro-imaging examinations suggested frontal lobe,temporal lobe,parietal lobe,occipital lobe,basal ganglion,pons and lateral ventricle were damaged.And 9 patients received an ineffective antiepileptic drug treatment.The efficacy in the management of PSH with dopamine agonists combining with β-blockers was observed.Two patients achieved complete remission,6 patients had a reduction in episode frequency,1 patient showed no response to the therapy and 1 patient discharged and could not be connected.Conclusions PSH can occur after various types and different degrees of brain injury.PSH is often misdiagnosed as epilepsy,and anticonvulsant therapies are useless.PSH receives good responses to β-blockers and dopamine agonists.

先证者(Ⅱ7) 男,35岁.自幼出现遇冷乏力.每到深秋和冬天遇冷后即感身体暴露部位无力,表现为吹冷风后睁闭眼困难,喝冷饮后咀嚼费力、言语欠流利,浸泡冷水后手指活动不灵活、握拳后难以松开,取暖能促进恢复.日常生活无明显受累.夏天或温暖环境下能胜任中重度体力劳动.无肌肉疼痛,无秃发.既往无白内障,无精神异常,无糖尿病及视力下降。

Objective To investigate the association between the Clock T3111C and T257G gene polymorphisms and sleep epilepsy patients in Han population of Hunan province.Methods Three hundred and eleven subjects with epilepsy ( sleep epilepsy group ( n =112 ),aperiodic group ( n =95 ),awakening epilepsy group ( n =104 ) ) and 300 sex- and age-matched healthy controls were enrolled in the study.Genomic DNAs were extracted from peripheral blood leucocytes by phenol-chloroform methods.The Clock T3111C and T257G polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).Results (1) Two genotypes(TT and TC) were detected in Clock T3111C.The frequency of Clock site T3111C genotypes in all of the people was 86.09％ (TT,526/611),13.91％(TC,85/611),0( CC),T allele gene frequency was 93.04％ (1134/1222) and C allele gene frequency was 6.96％ (85/1222).There was no significant difference in genotype and gene distribution of Clock gene T3111C polymorphism between sleep epilepsy group,aperiodic group,awakening epilepsy group and control group.(2)Two genotypes(TT and TG) were detected in Clock T257G.The frequency of Clock site T257G genotypes in all of the people was 85.92％ (TT,525/611 ),14.08％ (TG,86/611 ),0( GG),T allele gene frequency was 92.96％ (1136/1222) and G allele gene frequency was 7.04％ (86/1222).There was no significant difference in genotype and gene distribution of Clock gene T257G polymorphisms between sleep epilepsy group,aperiodic epilepsy group,awakening epilepsy group and control group.(3)There was an almost complete correspondence (complete linkage disequilibrium) of bases between the positions 257 and 3111.Conclusion Clock gene T3111C and T257G polymorphisms are not associated with sleep epilepsy in Han population of Hunan province.