Leigh综合征的病理和基因(附4例报告)  

Pathological and genetic studies in Leigh’s syndrome

作　　者：袁云[1] 陈清棠[1] 戚豫[2] 王朝霞[1] 吴丽娟[1] 张月华[3] 姜玉武[3] 肖江喜[4] 那佳[5] 

机构地区：[1]北京大学第一医院神经内科,北京100034 [2]北京大学第一医院中心实验室,北京100034 [3]北京大学第一医院儿科,北京100034 [4]北京大学第一医院放射科,北京100034 [5]北京大学第一医院病理科,北京100034

出　　处：《中国神经精神疾病杂志》2001年第6期421-423,I002,共4页Chinese Journal of Nervous and Mental Diseases

摘　　要：目的 报告 ４例 Ｌｅｉｇｈ综合征的神经病理和基因改变特点，探讨影像学检查的诊断价值。方法 对 ４例具有典型Ｌｅｉｇｈ综合征临床表现的尸解材料行病理检查，其中２例进行基因检查和ＭＲ检查，２例进行ＣＴ检查。结果４例病人的病理均表现为中枢神经系统不同部位的灰质中心出现对称性、多发性海绵样改变伴随毛细血管增生和神经细胞脱失。脑干的黑质、舌下神经核、面神经核、前庭神经核和外展神经核均被累及，而病变在中枢神经系统其他部位的分布存在很大差异。２例行线粒体基因检查，其中１例严重病变者脑组织细胞和血细胞存在ｍｔＤＮＡ ８９３３Ｔ到 Ｇ点突变，其母亲血细胞也存在少量相同基因突变。２例病人 ＣＴ检查显示脑萎缩，其中 １例仅出现壳核低密度改变，２例ＭＲ检查均发现基底节和脑干多发性对称性异常信号。结论 脑干灰质核团出现病变是Ｌｅｉｇｈ综合征的共性改变，而中枢神经系统其他部位的病变存在很大的差异，ＭＲ比ＣＴ检查更有利于诊断此病。出现ｍｔＤＮＡ8９３３Ｔ到Ｇ点突变的患者大脑病变明显，是否提示基因改变和病理改变的分布具有内在联系有待进一步确定。Objective Leigh’s syndrome is a phenotypical expression of a genetically heterogeneous cluster of disorders, with presence of symmetrical spongiform lesions affecting several brain centers as main morphological features. We report neu- mpathological changes in four Chinese children of Leigh’s syndrome and genetic features in 2 of them. Methods Archival materi- al and clinical data of 4 autopsy cases of Leigh’s disease were reviewed. Genetic study was made in two cases. CT and MW were performed in 2 cases respectively. Results Multifocal symmetrical lesions with spongifomi alteration with capillary proliferation and marked neuron degeneration were found in different gray matter centers of the central nervous system. More macrophages appeared in fresh lesions, but glial cell proliferation predominantly presented in old ones. All cases showed involvement of substantia nigra, nuclei nervi abducentis, nuclei nervi facialis, nuclei vestibularis, nuclei nervi hypoglossi. The pathological changes varied in other areas from case to case. One of two genetically studied patients showed mtDNA T 8933 G mutation with marked pathological changes are the most markedly. The same genetic findings were also detected in his mother. CT showed general brain atrophy in both cases and with focal hypodensity lesions in bilateral putamen one of them. MRI showed multifocal symmetrical lesions in puta- men and brain stem. Conclusions The symmetrical pathological changes presented more commonly in gray matter centers of brain stem. The distribution of lesions in other area varied from case to case. In compare with CT examination, MRI is more useful for diagnosis. MtDNA T 8933 G point mutation presented in patient with more severe lesions. It needs to be detemiined if the gene mutation is related to the distribution of the lesions.

关 键 词：LEIGH综合征 亚急性坏死性脑脊髓病 线粒体脑病 病理 期间 病例报告 诊断 CT MRI 

分 类 号：R749.6[医药卫生—神经病学与精神病学]