中华神经医学杂志
中華神經醫學雜誌
중화신경의학잡지
CHINESE JOURNAL OF NEUROMEDICINE
2012年
10期
1050-1053
,共4页
喻绪恩%王训%石永光%高伟明%严彦%饶娆%王伟%周志华%程楠%彭刚
喻緒恩%王訓%石永光%高偉明%嚴彥%饒嬈%王偉%週誌華%程楠%彭剛
유서은%왕훈%석영광%고위명%엄언%요요%왕위%주지화%정남%팽강
线粒体脑肌病%临床表现%肌肉病理
線粒體腦肌病%臨床錶現%肌肉病理
선립체뇌기병%림상표현%기육병리
Mitochondrial myopathy%Clinical manifestation%Muscle pathology
目的 报道5例线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS)综合征患者的临床、肌肉病理表现和近期随访结果. 方法 同顾性分析安徽中医学院神经病学研究所附属医院神经内科自2008年12月至2011年6月5例MELAS综合征患者的临床表现、血清酶学、电生理、影像学、肌肉活检组织病理及近期随访的结果. 结果 3例首发症状为头痛,以偏瘫和上消化道出血为首发症状各1例,病程中有全身抽搐发作4例,精神症状2例.肌酸激酶4例正常,1例轻度升高.肌电图4例未见异常,1例肌源性损害.头颅MRI示5例均有明显异常,以永久性脑梗死和脑萎缩为主.肌肉组织病理检查5例均发现强反应性血管(SSVs),且SSVs的细胞色素C氧化酶的酶活性增强.经过线粒体保护等综合治疗,随访6个月3例已恢复到能正常工作,2例病情轻度好转. 结论 MELAS综合征患者的头颅MRI均有明显异常,肌活检组织病理及组织酶学染色是诊断该病关键手段,一般预后良好.
目的 報道5例線粒體腦肌病伴乳痠痠中毒和卒中樣髮作(MELAS)綜閤徵患者的臨床、肌肉病理錶現和近期隨訪結果. 方法 同顧性分析安徽中醫學院神經病學研究所附屬醫院神經內科自2008年12月至2011年6月5例MELAS綜閤徵患者的臨床錶現、血清酶學、電生理、影像學、肌肉活檢組織病理及近期隨訪的結果. 結果 3例首髮癥狀為頭痛,以偏癱和上消化道齣血為首髮癥狀各1例,病程中有全身抽搐髮作4例,精神癥狀2例.肌痠激酶4例正常,1例輕度升高.肌電圖4例未見異常,1例肌源性損害.頭顱MRI示5例均有明顯異常,以永久性腦梗死和腦萎縮為主.肌肉組織病理檢查5例均髮現彊反應性血管(SSVs),且SSVs的細胞色素C氧化酶的酶活性增彊.經過線粒體保護等綜閤治療,隨訪6箇月3例已恢複到能正常工作,2例病情輕度好轉. 結論 MELAS綜閤徵患者的頭顱MRI均有明顯異常,肌活檢組織病理及組織酶學染色是診斷該病關鍵手段,一般預後良好.
목적 보도5례선립체뇌기병반유산산중독화졸중양발작(MELAS)종합정환자적림상、기육병리표현화근기수방결과. 방법 동고성분석안휘중의학원신경병학연구소부속의원신경내과자2008년12월지2011년6월5례MELAS종합정환자적림상표현、혈청매학、전생리、영상학、기육활검조직병리급근기수방적결과. 결과 3례수발증상위두통,이편탄화상소화도출혈위수발증상각1례,병정중유전신추휵발작4례,정신증상2례.기산격매4례정상,1례경도승고.기전도4례미견이상,1례기원성손해.두로MRI시5례균유명현이상,이영구성뇌경사화뇌위축위주.기육조직병리검사5례균발현강반응성혈관(SSVs),차SSVs적세포색소C양화매적매활성증강.경과선립체보호등종합치료,수방6개월3례이회복도능정상공작,2례병정경도호전. 결론 MELAS종합정환자적두로MRI균유명현이상,기활검조직병리급조직매학염색시진단해병관건수단,일반예후량호.
Objective To explore the clinical data,muscle pathological findings and recent follow-up results of 5 patients being diagnosed as having mitochondrial encephalopathy,lactic acidosis,and stroke-like episodes (MELAS).Methods A retrospective analysis was carried out on the clinical manifestations,sero-enzymology,electrophysiology,iconography and muscle biopsy pathology,and recent follow-up results of 5 patients with MELAS,who admitted to our hospital from December 2008 to June 2011.Results Headache as first symptom appeared in 3 patients,hemiparesis as first symptom in 1 patient and upper gastrointestinal bleeding in 1.The total body seizure in the course was noted in 4 patients and psychiatric symptoms in 2.The creatine kinase level was normal in 4 with one being mildly elevated.Four patients were observed no abnormal electromyography with one having myogenic lesions.Brain MRI showed significant abnormality in 5 patients,mainly presented as permanent cerebral infarction and cerebral atrophy.Five patients were found strongly SDH-reactive blood vessels (SSVs) in muscle tissue pathological staining and the SSVs of CCO (+).After mitochondrial protection treatment,follow-up for six months showed that 3 patients has been restored to normal work and mildly improvement was noted 2 patients.Conclusion The brain MR imaging of 5 patients with MELAS is significantly abnormal,and muscle biopsy pathology and tissue enzymatic staining are important methods in diagnosing the disease; generally,the disease is a benign course.
