线粒体脑病-神经影像病例汇报

1、神经影像病例汇报朱颖2021-10-20Case 1 2090748男，31岁主因“发作性视力下降，听力下降伴癫痫5年，复发表达异常、听理解异常3天入院入院查体：发育差，身材偏瘦，言语欠流利，听理解力障碍，命名障碍，查体欠合作。高级皮层功能查体不配合。四肢腱反射未引出。左侧Babinski+，右侧乳酸 13.8 0.5-2 mmol/l May-04，天坛血mtDNA A3243突变阳性 Case2 631976 女，11岁“间断抽搐伴视力下降2年，右侧肢体活动障碍1周09-4入院2年来2此频繁抽搐、类卒中样发作，伴视力下降，头痛、生长发育缓慢，智力落后、倒退。查体：身材矮小，头围小，计算力差

2、，背部多毛，右眼内斜，拖曳步态；肌力右侧上下肢IV，腱反射弱。脑电图：异常肌电图未见异常。乳酸高 线粒体病定义由于遗传缺损引起线粒体代谢缺陷，导致ATP合成障碍，能量产生缺乏而出现的一组多系统疾病。分类线粒体病线粒体肌病线粒体脑肌病线粒体脑病CPEOKSSMERRFMELASMELASmitochondrial encephalomyopathylactic acidosisstroke-like episodes线粒体脑肌病乳酸血症卒中样发作MELAS发病机制血管病学说异常的线粒体沉积于软脑膜和脑内小动脉的平滑肌细胞和内皮细胞，导致脑组织缺血而致病细胞病学说线粒体功能障碍导致脑神经细胞能量供

3、给缺乏，无氧代谢增加，乳酸酸中毒，当能量需求增高时， 即诱发卒中样发作线粒体的氧化磷酸化异常最容易损伤枕叶非缺血性神经血管细胞学说神经元过度兴奋、神经元脆弱、毛细血管通透性增加和充血MR表现游走皮质受累为主顶枕颞多见不按脑血管分布钙质沉积基底节等脑内神经核团不同时期发作期慢性期钙化MRA少见异常DWIADC血管源性水肿ADC细胞毒性水肿MRSNAALac Fig. 1 MRI exams were realized at admission (D0), at 15 days (D15) of evolution, and for control 6 (M6) and 12 months lat

4、er. Conventional FLAIR and DWI data arerepresented in Fig. 1. FLAIR and DWI sequences are represented at two levels; the first 2 left columns corresponding to a view at the temporal level, and the 2 right columnsto the occipital level. Rows represent successively MRI exams realized at D0, D15, and M

5、6 (MRIs at M12 were not represented as they were similar to images obtained 6months earlier).At admission, recent left temporal lesion appeared with a hyper intensity on FLAIR sequence (1a), and ADCs were heterogeneous; elevated in anterior localization, anddiminished in posterior region (1b). There

6、 were no signal abnormalities on FLAIR or DWI views in the occipital regions (2a and 2b).At D15, bilateral occipital FLAIR hyperintensities appeared (2c). ADCs increased in these regions (2d), and became homogeneously elevated in the left temporal lesion(1d).At M6, FLAIR hyperintensities diminished

7、in the temporal lesion, replaced with gliosis (1e), and disappeared in the occipital region (2e). Lesion regression was more markedin those regions of the temporal lobe in which ADCs were previously the most elevated (white arrow). FLAIR abnormalities disappeared completely in occipital regions (2e)

8、,and ADCs reached normal values (2f).a mild energy failure resulting in moderate cellular dysfunction, responsible for vasogenic edema (high ADCs)a severe energy failure resulting in an irreversible cellular failure, with cytotoxic edema (low ADCs).36岁，女，急性听觉失认急性期CBF(a) MRA on day 9. (b) ce T1WI on d