Chen Q
Zhonghua Shen Jing Jing Shen Ke Za Zhi. 1990 Feb;23(1):38-40, 63.
A typical case of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS) was reported. The main clinical manifestations consisted of short stature, psychomotor deterioration, sensorineural deafness, and hemiparesis. The laboratory findings disclosed abnormal lactic acid tolerance abnormal EEG, VEP, AEP, SEP, and MCV. The CT scan showed multiple intracerebral infarcts, basal ganglia calcifications, and cerebral atrophy. A muscle biopsy was performed. The frozen sections with modified gomori trichrome stain revealed ragged-red-fiber which reacted strongly positive in NADH-TR stain. The electron microscopy revealed subsarcolemmal aggregation of mitochondria of various sizes with paracrystalline inclusions, abnormally arranged cristae, and osmiophilic dense-bodies in their matrices.
报道了一例典型的伴有乳酸性酸中毒和卒中样发作的线粒体脑肌病（MELAS）。主要临床表现包括身材矮小、精神运动发育迟缓、感音神经性耳聋和偏瘫。实验室检查发现乳酸耐量异常、脑电图（EEG）、视觉诱发电位（VEP）、听觉诱发电位（AEP）、体感诱发电位（SEP）和运动神经传导速度（MCV）异常。CT扫描显示多发性脑梗死、基底节钙化和脑萎缩。进行了肌肉活检。改良戈莫里三色染色的冰冻切片显示有破碎红纤维，其在NADH-TR染色中呈强阳性反应。电子显微镜检查显示肌膜下有各种大小的线粒体聚集，伴有副结晶包涵体、排列异常的嵴以及基质中的嗜锇致密小体。
