Clinical features of mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes syndrome (report of 1 case) / 临床神经病学杂志

ABSTRACT

Objective To explore the classical clinical features of mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) syndrome.Methods The clinical data of 1 MELAS syndrome patient was analyzed retrospectively.Results This patient suffered from the symptoms of stroke such as speech disorder and abnormal behavior at the beginning.She had a medical history of maternal family.There were headache and seizure in the process of the disease.The result after a physical examination showed that the patient had hearing loss, visual field defect and decrease of muscle strength.The CT and MRI scan of head showed that the patient had a stroke like lesion which did not follow the distribution of blood vessels.The blood and cerebrospinal fluid examination has ruled out viral and autoimmune encephalitis.The final diagnosis of MELAS syndrome was confirmed by gene analysis.The gene mutation was the m.3243A>G mutation.The clinical symptoms of the patient were comprehensive and the imaging findings were typical.Conclusions Main clinical manifestations of MELAS syndrome are stroke like seizures, epilepsy, headache, dementia, hearing impairment, peripheral neuropathy, myopathy, lactic acidosis, diabetes and so on.Main imaging features of the disease are stroke like lesions, basal ganglia calcification and brain atrophy.