Finsterer Josef
Klinik Landstrasse, Messerli Institute, Postfach 20, 1180 Vienna, Vienna, Austria.
J Family Med Prim Care. 2021 Aug;10(8):3151-3153. doi: 10.4103/jfmpc.jfmpc_2314_20. Epub 2021 Aug 27.
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.
患者为一名73岁男性，因跌倒前来就诊，跌倒后未失去意识或大小便失禁。临床检查发现患者存在定向障碍、眼球运动麻痹、左侧偏盲、左侧半侧空间忽视、听力减退、四肢瘫痪、全身消瘦、腱反射普遍减弱、轻度强直、右下肢偶尔出现肌阵挛性抽搐以及左下肢共济失调。脑部磁共振成像（MRI）显示有类中风样病变（SLL）、广泛性萎缩、白质病变和脑桥胶质增生。既往病史显示患者患有糖尿病、听力减退、动脉高血压、高脂血症、维生素D缺乏、白内障、食管腺癌、组织细胞瘤、巴雷特食管、食管裂孔疝、结肠息肉和乳酸性酸中毒。基于此临床表现谱、乳酸性酸中毒以及脑部MRI检查结果，诊断为线粒体疾病（MID）。该病例表明，MID可能多年未被诊断出来，SLL可能容易与缺血性中风混淆，并且SLL的最初表现可能是跌倒。
