A case of middle-aged mitochondrial encephalomyopathy with multiple cerebrovascular stenosis / 中国脑血管病杂志

ABSTRACT

A case of middle-age-onset mitochondrial encephalomyopathy,lactic acidosis and stroke-like episodes (MELAS) type mitochondrial myopathy was retrospectively analyzed, and clinical features and diagnostic criteria of MELAS with multiple cerebrovascular stenosis in the middle-aged were summarized. The patient was a middle-aged woman who suffered from repeated headaches and limb convulsions and admitted by Xuanwu Hospital Capital Medical University. She had various risk factors of atherosclerosis. Related examination revealed multiple intracranial vascular stenosis. The lesions could be caused by the stenotic vessels. Therefore, the first diagnosis was ' acute cerebral infarction' after admission. But the clinical symptoms were characterized by ' relapse-remission'. The patient also suffered from headaches, seizures, and cognitive decline. There was past history of ' neurological deafness' and hearing loss in both ears. Magnetic resonance imaging (MRI) showed that ischemic lesions were distributed in the cortex. So further examinations were conducted. She was diagnosed as MELAS-type mitochondrial myopathy by head MR, magnetic resonance spectroscopy (MRS) and genetic examination. Neurotrophic factors, mitochondria-protection,anti-epilepsy,and relief therapy were given. The genetics and clinical manifestations of MELAS-type of mitochondrial myopathy are broadly heterogeneous. For middle-age-onset patients who have various atherosclerotic risk factors and stroke-like symptoms, doctors should be cautious about the mitochondrial disease by dynamically observing patient's clinical symptoms and head MRI, and perform pathology and gene mutation examination for comprehensive analysis. Only in this way,can we timely consider the possibility of mitochondrial encephalomyopathy and correctly make diagnosis as early as possible.