PDF(Pubmed)
Abstract：
UNASSIGNED: The stroke-like episodes and brain MRI lesions in MELAS usually have a nonischemic pattern, are resolved over time, and have a migrating pattern that helps us distinguish them from ischemic cerebral infarcts. Nevertheless, conditions such as intracardiac thromboses, PFO, and hypercoagulable state may be present concomitantly, leading to mismanagement. Therefore, further investigation and echocardiography are suggested in MELAS patients.
UNASSIGNED: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is the most common maternally-inherited mitochondrial disorder presenting by stroke-like episodes, seizures, encephalopathy and muscle weakness. We report the clinical, imaging, echocardiography and muscle biopsy findings of a patient presenting by unique characteristics which have not been reported in previous cases of MELAS. The reported case is a 34 year old man with the history of three times hospitalization due to muscle weakness, encephalopathy, progressive cognitive decline, and gradual visual loss. Muscle biopsy revealed Ragged Red Fibers concomitant with mitochondrial disorders. PFO was found in echocardiography leading to mismanagement of this patient and MR imaging showed ischemic lesions with a progressive pattern. This is the first reported case of MELAS accompanying with PFO. All previous reported cases of MELAS have mentioned a fluctuating characteristic for the ischemic lesions; hence this is the first case of MELAS with the progressive pattern of ischemic lesions.
UNASSIGNED: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is the most common maternally-inherited mitochondrial disorder presenting by stroke-like episodes, seizures, encephalopathy and muscle weakness. We report the clinical, imaging, echocardiography and muscle biopsy findings of a patient presenting by unique characteristics which have not been reported in previous cases of MELAS. The reported case is a 34 year old man with the history of three times hospitalization due to muscle weakness, encephalopathy, progressive cognitive decline, and gradual visual loss. Muscle biopsy revealed Ragged Red Fibers concomitant with mitochondrial disorders. PFO was found in echocardiography leading to mismanagement of this patient and MR imaging showed ischemic lesions with a progressive pattern. This is the first reported case of MELAS accompanying with PFO. All previous reported cases of MELAS have mentioned a fluctuating characteristic for the ischemic lesions; hence this is the first case of MELAS with the progressive pattern of ischemic lesions.
摘要：
■MELAS的卒中样发作和脑部MRI病变通常具有非缺血性模式，随着时间的推移，并有迁移模式帮助我们将它们与缺血性脑梗塞区分开来。然而，如心内血栓形成，PFO,高凝状态可能同时存在，导致管理不善。因此,MELAS患者建议进一步检查和超声心动图检查.
■线粒体肌病，脑病,乳酸性酸中毒,中风样发作（MELAS）是最常见的母系遗传性线粒体疾病，表现为中风样发作，癫痫发作,脑病和肌肉无力。我们报告临床，成像,患者的超声心动图和肌肉活检结果表现出独特的特征，这在以前的MELAS病例中没有报道过。报告的病例是一名34岁的男子，因肌肉无力而住院3次，脑病,进行性认知能力下降，和逐渐的视力丧失。肌肉活检显示红色纤维参差不齐并伴有线粒体疾病。在超声心动图中发现PFO，导致该患者管理不善，MR成像显示缺血性病变呈渐进式。这是第一例MELAS伴PFO的病例。先前报道的所有MELAS病例都提到了缺血性病变的波动特征；因此，这是MELAS的第一例，具有缺血性病变的进行性模式。
■线粒体肌病，脑病,乳酸性酸中毒,中风样发作（MELAS）是最常见的母系遗传性线粒体疾病，表现为中风样发作，癫痫发作,脑病和肌肉无力。我们报告临床，成像,患者的超声心动图和肌肉活检结果表现出独特的特征，这在以前的MELAS病例中没有报道过。报告的病例是一名34岁的男子，因肌肉无力而住院3次，脑病,进行性认知能力下降，和逐渐的视力丧失。肌肉活检显示红色纤维参差不齐并伴有线粒体疾病。在超声心动图中发现PFO，导致该患者管理不善，MR成像显示缺血性病变呈渐进式。这是第一例MELAS伴PFO的病例。先前报道的所有MELAS病例都提到了缺血性病变的波动特征；因此，这是MELAS的第一例，具有缺血性病变的进行性模式。
