Zijun Lin, Xu Yi, Yujia Yang, Zhiqiang Xu
Department of Neurology Army Medical Center of People's Liberation Army of China Chongqing China.
Clin Case Rep. 2024 Mar 13;12(3):e8438. doi: 10.1002/ccr3.8438. eCollection 2024 Mar.
MELAS is a disorder with clinical variability that also responsible for a significant portion of unexplained hereditary or childhood-onset hearing loss. Although patients typically present in childhood, the first stroke-like episode can occur later in life in some patients, potentially related to a lower heteroplasmy level. It is crucial to consider MELAS as a potential cause of stroke-like events if age at presentation and symptoms are atypical, especially among middle-aged patients without vascular risk factors.
MELAS syndrome (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a rare genetic condition that most patients develop stroke-like episodes before the age of 40. We report a 52-year-old female with a documented 40-year history of progressive sensorineural hearing loss, developed a visual field deficit and stroke-like events in her middle age who finally diagnosed was MELAS. The patient was started on vitamin E, l-carnitine, l-arginine, and coenzyme Q10 that gradually improved before dismissal from the hospital. This case highlights the importance of considering MELAS as a potential cause of stroke-like events if imaging findings are atypical for cerebral infarction, especially among middle-aged patients without vascular risk factors and an unusual cause of progressive sensorineural hearing loss.
线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）是一种临床症状具有变异性的疾病，也是不明原因的遗传性或儿童期起病的听力损失的重要原因。尽管患者通常在儿童期发病，但部分患者首次卒中样发作可能发生在晚年，这可能与较低的异质性水平有关。如果发病年龄和症状不典型，尤其是在没有血管危险因素的中年患者中，将MELAS视为卒中样事件的潜在原因至关重要。
MELAS综合征（线粒体脑肌病伴乳酸血症和卒中样发作）是一种罕见的遗传疾病，大多数患者在40岁之前会出现卒中样发作。我们报告了一名52岁女性，有记录显示其有40年进行性感音神经性听力损失病史，中年时出现视野缺损和卒中样事件，最终被诊断为MELAS。患者开始服用维生素E、左旋肉碱、左旋精氨酸和辅酶Q10，出院前病情逐渐好转。该病例强调，如果脑梗死的影像学表现不典型，尤其是在没有血管危险因素且有进行性感音神经性听力损失异常病因的中年患者中，将MELAS视为卒中样事件的潜在原因的重要性。
