Aladashvili Zaza, Rodriguez Thalia B, Izquierdo-Pretel Guillermo
Internal Medicine/Critical Care, Jackson Memorial Hospital, Miami, USA.
Faculty of Medicine, Tbilisi State Medical University, Tbilisi, GEO.
Cureus. 2025 May 12;17(5):e83959. doi: 10.7759/cureus.83959. eCollection 2025 May.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder characterized by recurrent stroke-like episodes, seizures, and progressive neurological decline. We presented the case of an 18-year-old female, diagnosed with MELAS syndrome at age 11, who presented with acute vision loss and seizures. Neuroimaging revealed acute infarcts in the occipital and parietal lobes, consistent with MELAS syndrome-related strokes. Elevated lactate levels confirmed metabolic dysfunction. Management included arginine supplementation, seizure medication optimization, and a high-fat, low-carbohydrate diet. The patient's vision improved, seizures subsided, and lactate levels normalized. This case highlights the importance of early recognition and a multidisciplinary approach in optimizing the metabolic and neurological management of MELAS syndrome.
线粒体脑肌病伴乳酸酸中毒和卒中样发作（MELAS）是一种罕见的线粒体疾病，其特征为反复发作的卒中样发作、癫痫和进行性神经功能衰退。我们报告了一例18岁女性病例，该患者11岁时被诊断为MELAS综合征，此次因急性视力丧失和癫痫发作就诊。神经影像学检查显示枕叶和顶叶急性梗死灶，符合MELAS综合征相关的卒中表现。乳酸水平升高证实存在代谢功能障碍。治疗措施包括补充精氨酸、优化抗癫痫药物治疗以及高脂低碳水化合物饮食。患者视力改善，癫痫发作缓解，乳酸水平恢复正常。该病例凸显了早期识别以及多学科方法在优化MELAS综合征代谢和神经管理方面的重要性。
