国际医学放射学杂志
國際醫學放射學雜誌
국제의학방사학잡지
International Journal of Medical Radiology
2015年
5期
461-467
,共7页
线粒体肌病%脑病%乳酸性酸中毒%卒中样发作%磁共振成像%成人
線粒體肌病%腦病%乳痠性痠中毒%卒中樣髮作%磁共振成像%成人
선립체기병%뇌병%유산성산중독%졸중양발작%자공진성상%성인
Mitochondrial myopathy%Encephalopathy%Lactic acidosis%Stroke-like episodes%Magnetic resonance imaging%Adult
目的：探讨成人MELAS综合征的临床表现和影像特点，提高对该病的认识，减少误诊。方法复习线粒体脑肌病相关文献，回顾性分析2例经肌肉病理活检证实的MELAS 综合征病人的临床和影像资料。结果病人均为卒中样起病伴癫间发作。影像检查提示：①不对称累及颞顶枕叶的“脑梗死”样病灶：CT 示片状低密度影，MRI 示片状稍长T1稍长T2信号，FLAIR 呈高信号，扩散加权成像（DWI）呈高信号，表观扩散系数（ADC）图呈稍低信号；②病变同时累及大脑中动脉及大脑后动脉供血区；③MR血管成像（MRA）未见相应供血动脉狭窄或闭塞；④灌注加权成像（PWI）显示病变区异常高灌注；⑤磁共振波谱成像（MRS，TE=135 ms）示病灶区明显倒置的乳酸峰。实验室检查示血和脑脊液中乳酸含量明显升高。肌肉活检（改良Gomori Trichrome 染色，MGT）示细胞内散在破碎红纤维。2例均确诊为MELAS综合征。基因检测线粒体DNA（mt DNA） A3243G点突变情况，病例1呈阴性，病例2呈阳性。病例1的病人于首次发病1年后复发，新发病灶向颞极迁移，原发病灶累及脑区萎缩。结论MELAS综合征临床较为罕见，临床表现和影像改变具有一定的特征，多模态MRI检查对本病的临床诊断具有重要的价值。最终确诊依赖于肌肉病理组织学检查。
目的：探討成人MELAS綜閤徵的臨床錶現和影像特點，提高對該病的認識，減少誤診。方法複習線粒體腦肌病相關文獻，迴顧性分析2例經肌肉病理活檢證實的MELAS 綜閤徵病人的臨床和影像資料。結果病人均為卒中樣起病伴癲間髮作。影像檢查提示：①不對稱纍及顳頂枕葉的“腦梗死”樣病竈：CT 示片狀低密度影，MRI 示片狀稍長T1稍長T2信號，FLAIR 呈高信號，擴散加權成像（DWI）呈高信號，錶觀擴散繫數（ADC）圖呈稍低信號；②病變同時纍及大腦中動脈及大腦後動脈供血區；③MR血管成像（MRA）未見相應供血動脈狹窄或閉塞；④灌註加權成像（PWI）顯示病變區異常高灌註；⑤磁共振波譜成像（MRS，TE=135 ms）示病竈區明顯倒置的乳痠峰。實驗室檢查示血和腦脊液中乳痠含量明顯升高。肌肉活檢（改良Gomori Trichrome 染色，MGT）示細胞內散在破碎紅纖維。2例均確診為MELAS綜閤徵。基因檢測線粒體DNA（mt DNA） A3243G點突變情況，病例1呈陰性，病例2呈暘性。病例1的病人于首次髮病1年後複髮，新髮病竈嚮顳極遷移，原髮病竈纍及腦區萎縮。結論MELAS綜閤徵臨床較為罕見，臨床錶現和影像改變具有一定的特徵，多模態MRI檢查對本病的臨床診斷具有重要的價值。最終確診依賴于肌肉病理組織學檢查。
목적：탐토성인MELAS종합정적림상표현화영상특점，제고대해병적인식，감소오진。방법복습선립체뇌기병상관문헌，회고성분석2례경기육병리활검증실적MELAS 종합정병인적림상화영상자료。결과병인균위졸중양기병반전간발작。영상검사제시：①불대칭루급섭정침협적“뇌경사”양병조：CT 시편상저밀도영，MRI 시편상초장T1초장T2신호，FLAIR 정고신호，확산가권성상（DWI）정고신호，표관확산계수（ADC）도정초저신호；②병변동시루급대뇌중동맥급대뇌후동맥공혈구；③MR혈관성상（MRA）미견상응공혈동맥협착혹폐새；④관주가권성상（PWI）현시병변구이상고관주；⑤자공진파보성상（MRS，TE=135 ms）시병조구명현도치적유산봉。실험실검사시혈화뇌척액중유산함량명현승고。기육활검（개량Gomori Trichrome 염색，MGT）시세포내산재파쇄홍섬유。2례균학진위MELAS종합정。기인검측선립체DNA（mt DNA） A3243G점돌변정황，병례1정음성，병례2정양성。병례1적병인우수차발병1년후복발，신발병조향섭겁천이，원발병조루급뇌구위축。결론MELAS종합정림상교위한견，림상표현화영상개변구유일정적특정，다모태MRI검사대본병적림상진단구유중요적개치。최종학진의뢰우기육병리조직학검사。
Objective To investigate the clinical and imaging characteristics of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome in adult, and to enhance the knowledge of this disease and decrease misdiagnose. Methods Relevant literatures were reviewed, and two cases of MELAS syndrome proved by muscle pathology were retrospectively analyzed. Results The two patients presented with the onset of stroke and seizures. Imaging examination: “cerebral infarction”-like lesions asymmetrically involving temporal parietal occipital lobe. CT scan showed patchy low density shadow. On MRI, lesions showed slightly long T1 and T2 signals, hyperintensity on FLAIR and DWI, slightly low signal on ADC map. The lesions involved the territories of middle cerebral artery and the posterior cerebral artery. Brain MRA scan showed supply artery stenosis or occlusion. The perfusion weighted imaging showed abnormal hyperperfusion in the lesion area. Magnetic resonance spectroscopy (TE=135 ms) scan showed obvious inverted lactate peak at lesions. Laboratory tests showed the lactate level of blood and cerebrospinal fluid increased significantly. For biceps brachii biopsy, the scattered and ragged red fibers can be seenon modified Gomori-trichrome. The two cases of last diagnosis is MELAS syndrome. For the mt DNA A3243G of detection, the first case was negative, but the second case was positive. The first patient returned one year later due to second onset, the new lesion involved temporal pole, brain atrophy was seen at the primary lesion area. Conclusion MELAS syndrome is rare in clinic, and clinical and imaging manifestations have certain characteristics. Multi-modality MRI has important value in the diagnosis of the disease. Final diagnosis relies on muscle histological examination.
