Case Report: Analysis of a Case of Secondary Epilepsy Caused by Mitochondrial Encephalomyopathy
Year: 2026
Type: article
Study design: Case Report
Abstract: Objective: A case of MELAS attack was analyzed to provide reference and help for clinical identification and treatment of the disease.Methods: Patient's main symptoms are paroxysmal loss of consciousness and headache.Plasma lactic acid 5.0 mmol/L, whole blood lactic acid 19.8 mmol/L; MND electromyography showed that the upper and lower limbs showed myogenic changes, and the proximal part was more involved.Muscle biopsy was consistent with the changes of skeletal muscle in mitochondrial encephalomyopathy; Electroencephalogram: abnormal EEG; Multi-modal enhanced MRI scan of brain tumors: MRS suspicious lactic acid peak; The full length of mitochondrial gene showed that m.3243A > G was about 34.09%.The patient's clinical manifestations, laboratory examination, muscle biopsy and genetic testing support the diagnosis.Symptomatic treatment was given, and the patient's symptoms improved and he was discharged.Conclusion: Mitochondrial encephalomyopathy has various clinical manifestations and complicated pathogenesis, and is often misdiagnosed as stroke, epilepsy and other diseases, which is not easy to be found in clinic.Gene detection and muscle biopsy are helpful for diagnosis, and there is no specific treatment scheme, so the prognosis is not good.
Source: Advances in Clinical Medicine
Author: 钰书 唐
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W7212240285