Finsterer Josef, Hayman John
Neurology, Neurology and Neurophysiology Centre, Vienna, AUT.
Clinical Pathology, The University of Melbourne, Melbourne, AUS.
Cureus. 2022 May 5;14(5):e24746. doi: 10.7759/cureus.24746. eCollection 2022 May.
Mitochondrial disorders are caused due to variants in genes located on the mitochondrial DNA or the nuclear DNA. Here, we report a case with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)/Leigh overlap syndrome due to variant m.13513G>A in ND5. A 60-month-old female with a congenital, complex, multisystem phenotype was diagnosed with MELAS/Leigh overlap syndrome due to variant m.13513G>A in ND5 Brainstem involvement resulted in dysphagia, dysarthria, and respiratory failure with recurrent episodes of aspiration, respiratory insufficiency, desaturations, lack of respiratory drive, hypercapnia, and pneumonia. Treatment was symptomatic and included non-invasive ventilation, antibiotics, implantation of a percutaneous endoscopic gastrostomy, anti-seizure drugs, anti-dystonia medication, a cocktail of vitamins and antioxidants, and analgesics. Despite these measures, the outcome was poor as the patient died at the age of 62 months after being discharged to home palliative care. In summary, the m.13513G>A variant can manifest as MELAS/Leigh overlap syndrome with Leigh syndrome dominating. Because of brainstem involvement leading to respiratory dysfunction, dysarthria, and dysphagia, the outcome is poor, despite symptomatic measures.
线粒体疾病是由线粒体DNA或核DNA上的基因变异引起的。在此，我们报告一例因ND5基因m.13513G>A变异导致的线粒体脑病、乳酸酸中毒和卒中样发作（MELAS）/ Leigh重叠综合征。一名60个月大的女性，具有先天性、复杂的多系统表型，因ND5基因m.13513G>A变异被诊断为MELAS/Leigh重叠综合征。脑干受累导致吞咽困难、构音障碍和呼吸衰竭，伴有反复的误吸、呼吸功能不全、血氧饱和度下降、呼吸驱动力缺乏、高碳酸血症和肺炎。治疗为对症治疗，包括无创通气、抗生素、经皮内镜下胃造瘘术植入、抗癫痫药物、抗肌张力障碍药物、维生素和抗氧化剂鸡尾酒以及镇痛药。尽管采取了这些措施，患者在出院接受家庭姑息治疗后62个月死亡，预后较差。总之，m.13513G>A变异可表现为以Leigh综合征为主导的MELAS/Leigh重叠综合征。由于脑干受累导致呼吸功能障碍、构音障碍和吞咽困难，尽管采取了对症措施，预后仍较差。
