亚历山大病Ⅱ型4例临床及文献复习  

Clinical research of 4 patients with type H Alexander disease and literature review

作　　者：班婷婷[1] 吴晔[1] 张仲斌[1] 臧莉莉[1] 王静敏[1] 姜玉武[1] 

机构地区：[1]北京大学第一医院儿科,100034

出　　处：《中华实用儿科临床杂志》2016年第9期700-705,共6页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金（81171065）;国家科技支撑计划（2012BAI09B04）

摘　　要：目的通过分析Ⅱ型亚历山大病（AxD）患者的临床及头颅MRI特点，提高临床医师对本病的认识，以利于早期识别。方法以北京大学第一医院胶质纤维酸性蛋白基因确诊的4例及文献报道的128例Ⅱ型AxD患者为研究对象，对其临床表型及头颅MRI特征进行总结。结果1．基因确诊的4例Ⅱ型AxD患者中有2例仅头颅MRI异常但尚无临床症状的成年患者；2例患儿临床表现为下肢运动障碍、锥体束症状、发作性加重、癫痫发作等，其中1例患儿病程中出现球麻痹症状。4例患者头颅MRI均出现异常，但仅1例符合本病典型MRI诊断标准，余3例MRI表现为逐渐出现的延髓及上部颈髓的萎缩或脑干病灶、脑室旁白质异常信号或基底核区异常，其中l例无明显白质异常。2．文献报道的128例Ⅱ型AxD患者：发病年龄为（32±19）岁，主要以球麻痹和／或假性球麻痹（32．48％，38／117例）、下肢运动障碍（31．62％，37／117例）、自主神经功能障碍（13．67％，16／117例）等为发病症状，病程中出现球麻痹和／或假性球麻痹（73．50％，86／117例）、锥体束症状（60．68％，71／117例）、共济失调（51．28％，60／117例）等表现。头颅MRI特点为脑干（主要为延髓）及脊髓部位萎缩或异常信号，小脑齿状核、白质、基底核及丘脑信号异常亦较常见。结论Ⅱ型AxD发病较晚，临床表现主要为球麻痹和／或假性球麻痹、下肢运动障碍、锥体束征等，头颅MRI主要表现为脑干（主要为延髓）及脊髓萎缩、异常信号等。Objective To analyze the clinical and MRI features of patients with type Ⅱ Alexander disease （AxD） in order to better understand and diagnose it earlier. Methods Four type Ⅱ AxD patients identified by glial fi- brillary acidic protein gene mutations from Peking University First Hospital and 128 type Ⅱ AxD cases from published literatures were collected,and the clinical and MRI features were summarized. Results （ 1 ） In 4 type Ⅱ AxD patients, 2 adult patients showed abnormal MRI features without clinical manifestation. The other 2 children patients both mani- fested motor dysfunction of lower limbs, pyramidal signs, paroxysmal deterioration, and seizures during the course of disease, while I of them had bulbar paralysis. The MRI of all the cases was abnormal, but only 1 case MRI corresponded with typical MRI features of type Ⅱ AxD. In the other 3 cases MRI showed the atrophy in the medulla and upper spinal cord, or the brainstem lesions and abnormal signal in the periventricular white matter, and abnormal basal ganglia re- gion. （2） In 128 reported type Ⅱ AxD cases,the age of onset was （32 ± 19） years old. The initial syndromes mainly contained bulbar and/or pseudobulbar paralysis （32.48 % ,38/117 cases）, motor dysfunction of the lower limbs （ 31. 62% ,37/117 cases） and autonomic nerve dysfunction （13.67%, 16/117 cases）. During the course of the disease,the clinical manifestation showed bulbar and/or pseudobulbar paralysis （73.50% , 86/117 cases） , pyramidal signs （60. 68% ,71/117 cases） and ataxia （51.28% ,60/117 cases）. The MRI of all cases was characterized by atrophy or ab- normal signals in the brainstem, especially in medulla oblongata, and spinal cord. And abnormal signals in the cerebellar dentate nuclei,white matter, basal ganglia and thalamus were also commonly shown in the MRI. Conclusions The pa- tients with type Ⅱ AxD are late - onset. The clinical manifestation mainly contains bulbar and/or pseudobulbar paralys- is, motor dysfunction of the lower

关 键 词：亚历山大病 胶质纤维酸性蛋白基因 

分 类 号：R742.89[医药卫生—神经病学与精神病学]