線粒體腦病-神經(jīng)影像病例匯報(bào)

1、神經(jīng)影像病例匯報(bào)朱穎2021-10-20Case 1 2090748男，31歲主因“發(fā)作性視力下降，聽(tīng)力下降伴癲癇5年，復(fù)發(fā)表達(dá)異常、聽(tīng)理解異常3天入院入院查體：發(fā)育差，身材偏瘦，言語(yǔ)欠流利，聽(tīng)理解力障礙，命名障礙，查體欠合作。高級(jí)皮層功能查體不配合。四肢腱反射未引出。左側(cè)Babinski+，右側(cè)乳酸 13.8 0.5-2 mmol/l May-04，天壇血mtDNA A3243突變陽(yáng)性 Case2 631976 女，11歲“間斷抽搐伴視力下降2年，右側(cè)肢體活動(dòng)障礙1周09-4入院2年來(lái)2此頻繁抽搐、類卒中樣發(fā)作，伴視力下降，頭痛、生長(zhǎng)發(fā)育緩慢，智力落后、倒退。查體：身材矮小，頭圍小，計(jì)算力差

2、，背部多毛，右眼內(nèi)斜，拖曳步態(tài)；肌力右側(cè)上下肢I(xiàn)V，腱反射弱。腦電圖：異常肌電圖未見(jiàn)異常。乳酸高 線粒體病定義由于遺傳缺損引起線粒體代謝缺陷，導(dǎo)致ATP合成障礙，能量產(chǎn)生缺乏而出現(xiàn)的一組多系統(tǒng)疾病。分類線粒體病線粒體肌病線粒體腦肌病線粒體腦病CPEOKSSMERRFMELASMELASmitochondrial encephalomyopathylactic acidosisstroke-like episodes線粒體腦肌病乳酸血癥卒中樣發(fā)作MELAS發(fā)病機(jī)制血管病學(xué)說(shuō)異常的線粒體沉積于軟腦膜和腦內(nèi)小動(dòng)脈的平滑肌細(xì)胞和內(nèi)皮細(xì)胞，導(dǎo)致腦組織缺血而致病細(xì)胞病學(xué)說(shuō)線粒體功能障礙導(dǎo)致腦神經(jīng)細(xì)胞能量供

3、給缺乏，無(wú)氧代謝增加，乳酸酸中毒，當(dāng)能量需求增高時(shí)， 即誘發(fā)卒中樣發(fā)作線粒體的氧化磷酸化異常最容易損傷枕葉非缺血性神經(jīng)血管細(xì)胞學(xué)說(shuō)神經(jīng)元過(guò)度興奮、神經(jīng)元脆弱、毛細(xì)血管通透性增加和充血MR表現(xiàn)游走皮質(zhì)受累為主頂枕顳多見(jiàn)不按腦血管分布鈣質(zhì)沉積基底節(jié)等腦內(nèi)神經(jīng)核團(tuán)不同時(shí)期發(fā)作期慢性期鈣化MRA少見(jiàn)異常DWIADC血管源性水腫ADC細(xì)胞毒性水腫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歲，女，急性聽(tīng)覺(jué)失認(rèn)急性期CBF(a) MRA on day 9. (b) ce T1WI on d