中国临床神经科学
中國臨床神經科學
중국림상신경과학
CHINESE JOURNAL OF CLINICAL NEUROSCIENCES
2015年
4期
378-383
,共6页
陈燕%曹秉振%刘磊%常高峰%苏净%王树才%程明%房淑欣%杨建军%卢英云
陳燕%曹秉振%劉磊%常高峰%囌淨%王樹纔%程明%房淑訢%楊建軍%盧英雲
진연%조병진%류뢰%상고봉%소정%왕수재%정명%방숙흔%양건군%로영운
MELAS综合征%肌肉病理%磁共振成像
MELAS綜閤徵%肌肉病理%磁共振成像
MELAS종합정%기육병리%자공진성상
MELAS syndrome%muscle pathology%magnetic resonance imaging
目的：探讨线粒体脑肌病中MELAS综合征患者的临床表现、影像学、组织病理学特点及诊断方法。方法对5例MELAS综合征患者的临床、影像学及神经电生理、肌肉和脑组织病理学特点进行系统分析，3例行肌活检，其中1例患者行肌肉电镜检查；2例行脑活检。结果 MELAS综合征患者主要临床表现为运动不耐受、脑卒中发作、抽搐发作、偏盲、偏头痛发作、听力下降、视力下降。5例患者中血乳酸增高4例，肌电图提示肌源性损害4例，脑电图检查提示重度异常脑电图5例，头颅MRI检查主要为颞、枕、顶叶的不对称病灶；3例患者肌肉组织有破碎红纤维，1例行肌肉电镜检查发现异常线粒体，2例患者脑组织活检可见皮质组织成分层样改变。结论根据患者的临床及影像学特点，并结合肌肉及脑组织活检可对线粒体脑肌病MELAS综合征进行诊断。
目的：探討線粒體腦肌病中MELAS綜閤徵患者的臨床錶現、影像學、組織病理學特點及診斷方法。方法對5例MELAS綜閤徵患者的臨床、影像學及神經電生理、肌肉和腦組織病理學特點進行繫統分析，3例行肌活檢，其中1例患者行肌肉電鏡檢查；2例行腦活檢。結果 MELAS綜閤徵患者主要臨床錶現為運動不耐受、腦卒中髮作、抽搐髮作、偏盲、偏頭痛髮作、聽力下降、視力下降。5例患者中血乳痠增高4例，肌電圖提示肌源性損害4例，腦電圖檢查提示重度異常腦電圖5例，頭顱MRI檢查主要為顳、枕、頂葉的不對稱病竈；3例患者肌肉組織有破碎紅纖維，1例行肌肉電鏡檢查髮現異常線粒體，2例患者腦組織活檢可見皮質組織成分層樣改變。結論根據患者的臨床及影像學特點，併結閤肌肉及腦組織活檢可對線粒體腦肌病MELAS綜閤徵進行診斷。
목적：탐토선립체뇌기병중MELAS종합정환자적림상표현、영상학、조직병이학특점급진단방법。방법대5례MELAS종합정환자적림상、영상학급신경전생리、기육화뇌조직병이학특점진행계통분석，3례행기활검，기중1례환자행기육전경검사；2례행뇌활검。결과 MELAS종합정환자주요림상표현위운동불내수、뇌졸중발작、추휵발작、편맹、편두통발작、은력하강、시력하강。5례환자중혈유산증고4례，기전도제시기원성손해4례，뇌전도검사제시중도이상뇌전도5례，두로MRI검사주요위섭、침、정협적불대칭병조；3례환자기육조직유파쇄홍섬유，1례행기육전경검사발현이상선립체，2례환자뇌조직활검가견피질조직성분층양개변。결론근거환자적림상급영상학특점，병결합기육급뇌조직활검가대선립체뇌기병MELAS종합정진행진단。
Aim To study clinical characteristic and imageology and histopathology of MELAS syndrome in order to diagnose the disease as early as possible. Methods Five cases of MELAS syndrome were analyzed on clinical features, imageology, auxiliary examination, histopathology of muscle. Results The most frequent clinical manifestations were stroke-like episodes, seizures, headache, audio-visual deifcit in the ifve ifnal or not ifnal diagnosis of MELAS syndrome;four cases with lactic acidosis;four cases with EEG abnormalities; five cases with EMG abnormalities; the imageology showed that the dissymmetry impairment involved occipital lobe and temporal lobe and apical lobe. Three cases presented red-ragged-ifbres (RRF) and one case was found annormal mitochondrionin in electronmicroscope. Two cases showed layerage structure in brain biopsy. Conclusion Stroke-like episodes, seizures, migraine, hemiamaurosis, psychogenia were the most frequent clinical manifestations in MELAS syndrome, which can be used to diagnose the disease as early as possible.
