Shian W J, Chi C S, Mak S C
Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1993 Jul-Aug;34(4):308-13.
A 5-month-old male infant, diagnosed as Leigh syndrome, presented with developmental delay, episodic apnea, metabolic acidosis, and myoclonic seizures. The magnetic resonance image of brain showed multiple symmetric low signals over the putamen in the T1-weighted axial view and linear high signal over the brainstem in the T2-weighted sagittal view. On electron microscopy, subsarcolemmal aggregation of abnormal mitochondria in muscle cells were found via biopsy. Small samples of myocardium, liver and brainstem, obtained via necropsy, were subjected to pathological examinations. On light microscopy, vacuoles were found in the myocardium and hepatocytes, while spongiform lesions in the neuropils, round cell infiltration, and vascular proliferation were observed in the brainstem. On electron microscopy, intramyelin splittings were observed in the spongiform lesions. We believe that intramyelin splitting must play an important role in the pathogenesis of spongiform lesions in Leigh syndrome.
一名5个月大的男婴被诊断为 Leigh 综合征，出现发育迟缓、发作性呼吸暂停、代谢性酸中毒和肌阵挛性癫痫。脑部磁共振成像显示，在T1加权轴位视图中壳核有多个对称低信号，在T2加权矢状视图中脑干有线状高信号。电子显微镜检查发现，通过活检在肌肉细胞中发现肌膜下异常线粒体聚集。通过尸检获取的小块心肌、肝脏和脑干样本进行了病理检查。光学显微镜检查发现，心肌和肝细胞中有空泡，而脑干中观察到神经纤维网海绵状病变、圆形细胞浸润和血管增生。电子显微镜检查发现，海绵状病变中有髓鞘内劈裂。我们认为，髓鞘内劈裂在 Leigh 综合征海绵状病变的发病机制中一定起着重要作用。
