Henry Caitlin, Patel Neema, Shaffer William, Murphy Lillian, Park Joe, Spieler Bradley
Louisiana State University Health Sciences Center, School of Medicine, New Orleans, LA.
Department of Radiology, Mayo Clinic Hospital, Jacksonville, FL.
Ochsner J. 2017 Fall;17(3):296-301.
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features.
We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years. We discuss the imaging features distinctive to the case, the mechanism of the disease, typical presentation, imaging diagnosis, and disease management.
This case is a classic example of the relapse-remitting MELAS syndrome progression with episodic clinical flares and fluctuating patterns of stroke-like lesions on imaging. MELAS is an important diagnostic consideration when neuroimaging reveals a pattern of disappearing and relapsing cortical brain lesions that may occur in different areas of the brain and are not necessarily limited to discrete vascular territories. Future studies should investigate disease mechanisms at the cellular level and the value of advanced magnetic resonance imaging techniques for a targeted approach to therapy.
线粒体脑肌病伴乳酸酸中毒及卒中样发作（MELAS）综合征是一种罕见的遗传性疾病，可导致神经系统和肌肉功能出现反复波动。MELAS综合征可能与其他神经系统疾病重叠，但具有独特的影像学特征。
我们报告了一名28岁女性病例，该患者有非典型卒中样症状、卒中样症状的家族史且病程呈复发-缓解型数年。我们讨论了该病例独特的影像学特征、疾病机制、典型表现、影像学诊断及疾病管理。
该病例是复发-缓解型MELAS综合征进展的典型例子，临床发作呈间歇性，影像学上卒中样病变呈波动模式。当神经影像学显示皮质脑病变有消失和复发的模式，且可能发生在大脑不同区域且不一定局限于离散血管区域时，MELAS是一个重要的诊断考虑因素。未来的研究应在细胞水平研究疾病机制以及先进磁共振成像技术在靶向治疗中的价值。
