Park Sun Yeong, Kim Se Hoon, Lee Young-Mock
Departments of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea.
Departments of Pathology, Yonsei University College of Medicine, Seoul, South Korea.
Front Neurol. 2017 Sep 29;8:520. doi: 10.3389/fneur.2017.00520. eCollection 2017.
Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In these circumstances, MERRF can only be diagnosed using genetic analyses. The symptoms, pathological findings, and imaging results being age dependent, we can construct a protocol based on these characteristics to understand the disease's natural course and to manage patients more effectively. The absence of RRFs should not preclude a MERRF diagnosis.
肌阵挛性癫痫伴破碎红纤维病（MERRF）是一种遗传性线粒体疾病，在肌肉活检中有破碎红纤维（RRF）的特征性形态学改变，若没有这种改变，对于具有MERRF提示性表型的患者，通常不考虑线粒体病因。在这些情况下，只能通过基因分析来诊断MERRF。由于症状、病理结果和影像学结果都与年龄有关，我们可以根据这些特征制定一个方案，以了解疾病的自然病程并更有效地管理患者。没有RRF并不排除MERRF的诊断。
