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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke‐like episodes localized to the precentral gyrus
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Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke‐like episodes localized to the precentral gyrus

机译：尸检案例用Merrf / Melas重叠综合症伴随着局部的卒中剧集伴随着先进的回归

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摘要

We present an autopsied case with A8344G‐mutated myoclonus epilepsy with ragged red fibers (MERRF)/mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes (MELAS) overlap syndrome accompanied by stroke‐like episodes localized to the precentral gyrus. A 16‐year‐old Japanese woman suddenly experienced repetitive consciousness disturbances with increased serum lactate and creatine kinase levels. Magnetic resonance imaging showed abnormal intensity of bilateral precentral gyrus. She was clinically diagnosed as having a mitochondrial disorder and the A8344G mutation was detected in mitochondrial DNA. At 17?years of age, she died from congestive heart failure secondary to a third episode of lactic acidosis. Neuropatho‐logically, multifocal laminar necrosis, which is responsible for stroke‐like episodes in MELAS, was seen in the frontal cortex including the precentral gyrus, but there was no neuronal loss and gliosis in the basal ganglia, cerebellum, and brainstem, which were compatible with MERRF. Hypertrophy of the vascular smooth muscle and choroidal epithelium were seen, and were strongly visualized by an anti‐mitochondrial antibody. Skeletal muscles showed uneven muscular diameters, increased central nuclei, and ragged red fibers (RRFs). Decreased cytochrome c oxidase (COX) activity and strongly succinate dehydrogenase (SDH)‐reactive blood vessels were also noted. Stroke‐like episodes in MERRF/MELAS overlap syndrome are thought to be rare in the frontal cortex including the precentral gyrus. Only two cases of MERRF/MELAS overlap syndrome with A8344G mutation, including this case, have shown stroke‐like episodes in the frontal lobes. Other than the A8344G mutation and frontal lobe involvement, they had a high degree of similarity in terms of presence of RRFs, gastrointestinal dysfunction, and lack of typical MERRF neuropathology. In conclusion, this is an important case describing the clinical spectrum associated with A8344G‐mutated MERRF/MELAS overlap syndrome.
机译：我们将尸体案例呈现出A8344G突变的肌阵挛性癫痫患者与缠结的红纤维（MERRF）/线粒体脑脊液病变，伴有乳酸性酸中毒和卒中相集（MELAS）重叠综合征，其伴随着局部的中间血管术。一个16岁的日本女性突然突然经历了血清乳酸和肌酸激酶水平的重复意识紊乱。磁共振成像显示双侧前列腺异常强度。她在临床诊断为具有线粒体疾病，并且在线粒体DNA中检测到A8344G突变。在17岁时，她死于继发于乳酸中的第三集的充血性心力衰竭。神经病理学逻辑上，在额外的波拉斯在包括前术过度的额度皮层中观察到Melas中的卒中类似事件的多焦点层坏死，但基底神经节，小脑和脑干中没有神经元丧失和神经衰弱，这是与merrf兼容。看到血管平滑肌和脉络膜上皮的肥大，并被抗线粒细胞抗体强烈可视化。骨骼肌显示出不均匀的肌肉直径，中央核和粗糙的红纤维（RRF）。还注意到细胞色素C氧化酶（COX）活性和强烈琥珀酸脱氢酶（SDH） - 反应性血管。 Merrf / Melas重叠综合征中的行程类似的发作被认为是额度皮层中的罕见，包括前术回谱。只有两种MerrF / Melas重叠综合征，具有A8344G突变，包括这种情况，已经显示出正面裂片中的卒中相片。除了A8344G突变和额叶的参与之外，它们在RRF的存在，胃肠功能障碍和缺乏典型的MERRF神经病理学方面具有高度相似性。总之，这是描述与A8344G突变的MERRF / MERAS重叠综合征相关的临床频谱的重要案例。

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