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目的分析白质消融性白质脑病的临床特点及诊断方法。方法对9例临床诊断为该病的患儿的临床及头颅影像学特点、实验室检查等进行分析,结合病例对该病进行综述介绍。结果(1)临床表现:9例中8例出现神经系统症状和体征,1例仅有 MRI 异常。发病时间为生后6个月～3岁;5例家族史阳性,病前智力运动发育多正常;多以运动症状起病,下肢为著。6例发病前或每遇病情加重前有呼吸道感染史,3例病前有轻微头部外伤史;到目前为止,有症状的7例呈进行性加重病程,其中4例同时有发作性加重现象。所有病例智力受损相对轻。7例头围正常,8例有上运动单元病变体征,4例有共济失调体征。3例双侧视神经萎缩。(2)头颅 MRI:表现为双侧对称弥漫性深部白质长 T_1长 T_2信号,可累及皮层下白质,额、顶叶为主,Flair 像为对称性白质高信号伴部分白质低信号甚至囊性变或大部分白质低信号仅存少量线状稍高信号,为此症特征性改变。(3)其他遗传性白质脑病相关酶学或生化检查均正常。结论以运动障碍起病、运动障碍重于智力障碍、神经影像学改变显著重于临床表现、MRI 表现为双侧对称弥漫性深部白质长 T_1长 T_2病变伴早期出现白质消融征象是本症的临床特点,临床诊断还需除外其他遗传性及获得性脑白质病。找到相应基因的致病突变可最终确诊。
Objective To analyze the clinical features and diagnostic methods of white matter ablative leukoencephalopathy. Methods Nine cases of clinical diagnosis of the disease in children with clinical and craniographic features, laboratory tests were analyzed, combined with the case of the disease were reviewed. Results (1) Clinical manifestations: Neurological symptoms and signs were found in 8 of 9 cases and MRI abnormalities in 1 case. Incidence of 6 months after birth to 3 years old; 5 cases of family history positive, premorbid mental development and more than normal; mostly onset of motor symptoms, lower extremity. There were 6 cases of respiratory tract infections before or each time the illness was exacerbated, and 3 cases had mild head trauma before the illness. So far, 7 cases with symptoms were progressively aggravating the disease course, of which 4 cases also had exacerbation . All cases of intellectual impairment is relatively light. 7 cases of normal head circumference, 8 cases of upper motor unit lesions signs, 4 cases of ataxia signs. Three cases of bilateral optic atrophy. (2) Head MRI: Bilateral symmetric diffuse deep white matter with long T_1 long T_2 signal may affect the subcortical white matter, the frontal and parietal lobes, Flair like the symmetrical white matter high signal with part of the white matter low signal or even cystic Change or most of the white matter low signal only a small amount of line slightly higher signal for this disease characteristic changes. (3) other hereditary leukoencephalosis related enzyme or biochemical tests were normal. Conclusions The onset of dyskinesia and dyskinesia are more important than mental retardation. The changes of neuroimaging are more important than those of clinical manifestations. MRI manifestations of bilateral symmetrical and diffuse deep white matter with long T_1 T 2 lesions with early signs of white matter ablation are clinical features Characteristics, clinical diagnosis also need to exclude other hereditary and acquired leukoencephalopathy. Pathogenic mutations to find the corresponding gene can be finally diagnosed.