PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■MELAS是一种具有临床变异性的疾病，也是无法解释的遗传性或儿童期听力损失的重要原因。虽然患者通常出现在儿童时期，第一次中风样发作可能发生在一些患者的生命后期，可能与较低的异质体水平有关。如果出现年龄和症状不典型，将MELAS视为中风样事件的潜在原因至关重要，尤其是没有血管危险因素的中年患者。
MELAS综合征（线粒体脑病伴乳酸性酸中毒和中风样发作）是一种罕见的遗传性疾病，大多数患者在40岁之前会出现中风样发作。我们报告了一名52岁的女性，有40年的进行性感觉神经性听力损失史，在她中年时出现视野缺损和中风样事件,最终诊断为MELAS.病人开始服用维生素E，左旋肉碱,l-精氨酸,和辅酶Q10在出院前逐渐好转。该病例强调，如果影像学发现不典型的脑梗死，应将MELAS视为卒中样事件的潜在原因。特别是在没有血管危险因素和不寻常的进行性感觉神经性听力损失的中年患者中。
MELAS综合征（线粒体脑病伴乳酸性酸中毒和中风样发作）是一种罕见的遗传性疾病，大多数患者在40岁之前会出现中风样发作。我们报告了一名52岁的女性，有40年的进行性感觉神经性听力损失史，在她中年时出现视野缺损和中风样事件,最终诊断为MELAS.病人开始服用维生素E，左旋肉碱,l-精氨酸,和辅酶Q10在出院前逐渐好转。该病例强调，如果影像学发现不典型的脑梗死，应将MELAS视为卒中样事件的潜在原因。特别是在没有血管危险因素和不寻常的进行性感觉神经性听力损失的中年患者中。
