Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): Case report

Mohammadreza Malek Zadeh ℗, Pourandokht Mousavian, Fariborz Rezaei Talab ©, Mohammad Ali Nahayati

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): Case report

کد: G-1018

نویسندگان: Mohammadreza Malek Zadeh ℗, Pourandokht Mousavian, Fariborz Rezaei Talab ©, Mohammad Ali Nahayati

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خلاصه مقاله

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited multi-organ disorder resulting from a mutation in a mitochondrial gene. This condition manifests with recurrent migraine headaches, seizures, cerebral insults leading to hemiparesis and hemianopia, progressive hearing loss, and cognitive impairments. Here, we present the case of a 30-year-old woman with a history of seizures, recurrent headaches, transient cerebral ischemic attacks, anorexia, nausea, and vomiting. Her symptoms escalated, including generalized tonic-clonic seizures, headaches, blurred vision, dysarthria, behavioral changes, ataxia, and a decline in consciousness, prompting hospitalization. Due to her critical condition, she was admitted to the intensive care unit. A comprehensive evaluation was conducted to determine the underlying cause, ruling out viral encephalitis, autoimmune encephalitis, paraneoplastic syndromes, and stroke. Diagnostic measures encompassed brain MRI, MRS, lumbar puncture, abdominal and pelvic CT scans, echocardiography, and laboratory tests, with a focus on serum and cerebrospinal fluid lactate levels. Based on the presence of clinical symptoms, imaging abnormalities, and elevated lactic acid levels, a diagnosis of MELAS syndrome was strongly considered. The patient received appropriate anticonvulsant therapy and pulse corticosteroids, resulting in significant improvement. Subsequently, the patient's overall condition improved, and she was discharged. Genetic testing is underway to identify the specific gene responsible for this condition. Keywords: Mitochondrial Encephalomyopathies, Stroke, Seizure, Lactic Acidosis

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