迟发型线粒体脑肌病伴高乳酸血症和卒中样发作综合征合并阵发性交感神经过度兴奋综合征1例  

A case report of late-onset MELAS with paroxysmal sympathetic hyperactivity syndrome

作　　者：张雯丽 章悦 初曙光 宋冬雷 彭方强 Zhang Wenli;Zhang Yue;Chu Shuguang;Song Donglei;Peng Fangqiang(Department of Neurology,Shanghai Donglei Brain Hospital,Shanghai 201702,China;Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China;Department of Radiology,Shanghai East Hospital,Tongji University,Shanghai 200126,China;Department of Neurosurgery,Shanghai Donglei Brain Hospital,Shanghai 201702,China)

机构地区：[1]上海冬雷脑科医院神经内科,上海201702 [2]复旦大学附属华山医院神经内科,上海200040 [3]同济大学附属东方医院影像科,上海200126 [4]上海冬雷脑科医院神经外科,上海201702

出　　处：《中华神经科杂志》2023年第3期324-328,共5页Chinese Journal of Neurology

摘　　要：阵发性交感神经过度兴奋综合征(PSH)是一种以阵发性心动过速、血压升高、呼吸急促、发热、大汗、姿势异常或肌张力障碍为表现的综合征,好发于中重度脑损伤、脑缺氧、脑积水、脑肿瘤及脑炎等疾病。目前病因及发病机制尚不清楚,临床上极易误诊为癫痫。文中报道1例经基因检测确诊的迟发型线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)患者。患者男性,43岁,在MELAS的治疗过程中出现发作性肢体不自主运动、多汗、心率增快和血压升高等症状,最初诊断为症状性癫痫,但长时程脑电监测未见同步化放电,给予抗癫痫治疗亦无效,头颅磁共振成像发现左侧岛叶及岛盖新发病灶,给予右美托咪定、巴氯芬及加巴喷丁等抑制交感神经兴奋性药物有效,故诊断更正为PSH发作。既往文献中尚无MELAS伴发PSH的报道,可能与PSH的临床知晓率较低有关。本例在发作期间出现新发岛叶及岛盖区的病灶,提示可能与PSH发病有关。Paroxysmal sympathetic hyperactivity(PSH)is a syndrome characterized by paroxysmal tachycardia,increased blood pressure,tachypnea,hyperthermia,profuse sweating,abnormal posture or dystonia.It occurs in diseases such as moderate to severe brain injury,cerebral hypoxia,hydrocephalus,brain tumor and encephalitis.At present,the etiology and pathogenesis are still unclear,and it is easy to be misdiagnosed as epilepsy clinically.This article reports a 43-year-old male patient with late-onset mitochondrial encephalomyopathy,lactic acidosis and stroke-like episodes(MELAS)confirmed by genetic testing.During hospitalization,he suddenly developed episodic involuntary limb movements,profuse sweating,tachycardia,and arterial hypertension.He was initially diagnosed with symptomatic epilepsy,but long-term electroencephalogram monitoring showed no synchronized discharge,and he was given antiepileptic drugs.The treatment was also ineffective.Brain magnetic resonance imaging revealed a new lesion in the left insular and insular operculum.Dexmedetomidine,baclofen,and gabapentin were given to suppress sympathetic nerve excitability.Drugs were effective,so the diagnosis was corrected to PSH.There is no report of MELAS complicated with PSH in the previous literature.It is speculated that it may be related to the low clinical cognition of PSH.In this case,new lesions in the insula and insular operculum appeared during the onset of PSH,suggesting that may be related to the pathogenesis of PSH.

关 键 词：阵发性交感神经过度兴奋综合征 MELAS综合征 交感神经系统 岛叶皮质 

分 类 号：R743.3[医药卫生—神经病学与精神病学] R597[医药卫生—临床医学]