Stroke-like lesions in mitochondrial disease may resemble ischemic stroke.
Stroke-like lesions in mitochondrial disease may resemble ischemic stroke.
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DOI：
10.4103/jfmpc.jfmpc_2314_20
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发表时间：
2021-08
影响因子：
1.4
通讯作者：
Finsterer J
中科院分区：
文献类型：
--
作者：
Finsterer J
患者是一位73岁的男性，在跌倒后没有失去意识或继发后被转诊。临床检查表现为定向障碍、眼麻痹、左偏盲、左偏视、听觉减退、四肢瘫、全身消瘦、肌腱反射普遍减少、轻度僵硬、偶有右下肢肌阵挛抽搐、左下肢共济失调。脑磁共振成像（MRI）显示脑卒中样病变（SLL），全身性萎缩，白质病变和脑瘫。既往有糖尿病、听觉减退、动脉高血压、高脂血症、维生素d缺乏症、白内障、食管腺癌、组织细胞瘤、Barrett食管、裂孔疝、结肠息肉、乳酸酸中毒。基于这种表型谱，乳酸酸中毒和大脑MRI，诊断为线粒体疾病（MID）。这个病例表明MID可能会被遗漏多年，SLL可能很容易与缺血性中风混淆；并且，SLL的最初表现可能是跌倒。
The patient is a 73-y-male who was referred after a fall without losing consciousness or secessus. Clinical exam revealed disorientation, ophthalmoparesis, hemianopia to the left, left hemineglect, hypoacusis, quadruparesis, general wasting, generally reduced tendon reflexes, mild rigor, occasional myoclonic jerks of the right lower limb, and ataxia of the left lower limb. Cerebral magnetic resonance imaging (MRI) showed a stroke-like lesion (SLL), generalized atrophy, white matter lesions, and ponsgliosis. The previous history was positive for diabetes, hypoacusis, arterial hypertension, hyperlipidemia, vitamin-D deficiency, cataract, esophageal adenocarcinoma, histiocytoma, Barrett esophagus, hiatal hernia, colonic polyps, and lactic acidosis. Based upon this phenotypic spectrum, lactic acidosis, and the cerebral MRI, a mitochondrial disorder (MID) was diagnosed. This case shows that a MID may be missed for years, that an SLL may be easily mixed up with ischemic stroke; and that the initial manifestation of an SLL may be a fall.