儿童肾上腺脑白质营养不良11例  

Eleven Children with Adrenoleukodystrophy

作　　者：鲍为群[1] 王治平[1] 吴洁[1] 鲍克容[1] 

机构地区：[1]上海交通大学医学院附属新华医院儿内神经组,上海200092

出　　处：《实用儿科临床杂志》2006年第3期165-166,共2页Journal of Applied Clinical Pediatrics

摘　　要：目的 探讨儿童肾上腺脑白质营养不良（ALD）的临床特点、影像学特点及治疗。方法 回顾总结11例儿童ALD临床及影像学资料，结合文献进行分析。结果 患者均为男性，起病年龄5～12岁，临床表现均有不同程度智力下降、视力减退、四肢活动障碍、构音困难、语言减少，部分患者有抽搐、听力下降、色素沉着。1例患儿血浆极长链脂肪酸（VLCFA）异常增高。影像学特点：1．蝶形病灶，在双侧三角区周围呈现对称的、大片状、局限于脑白质的蝶形病灶。2．花边样强化条带将蝶形病灶分隔成较大片中央和外周区，两个区域的信号强度与密度不同。3．整个胼胝体压部信号异常。4．MRI优于CT能显示视觉、听觉传导通路上病灶。内科治疗无效。结论 AID临床特点为智力下降、视力减退、四肢活动障碍、语言障碍为主。CT、MRI右特扦忡曲峦．VLCFA检测是诊断本病的特异方法。骨髓移植，基因治疗是治疗本病的方法。Objective To explore the clinical manifestation, neuroimage feature,and treatmantof adrenoleukodystrophy. Methods The clinical and radiology data of 11 children with adrenoleukodystrophy were reviewed retrospectively. The prrgnc,sis of the disease was analized by studying associated literature. Results All of 11 patients were boys. The symptoms occured between ages 5 and 12. The manifestations were variable mental retardation, visual loss, and disturbances of movement of extremities, dysarthria, withdraw of the speech. Part of the patients had seizure,deafness;incressed skin pigmentation. The level of very long chain fatty acids （VLCFA） in plasma in 1 patient was increased. Neuroirnaging features were： 1. Butterfly shaped focus. Periatril zone were at the leading frontal edge of the lesions where the myelin destruction was particularly severe. T2 - weighted axial scans showed high intensity areas in periatril areas in the white matter bilaterally. 2. Laeelike high intensity lesions divide the focus into 2 areas where the intensity of the white matter was different. 3. Involvement of the splenium of the corpus callosum could be .seen on the MRI scan. 4. MRI was better to reveal the pathological changes for auditory and visual pathway. There was no effective therapy. Conclusions The main clinical feature of adrenoleukodystrophy is declined mental status, visual deterioration, movement disorder, and speech disorder. CT scan and MRI show characteristic changes. Derermine the level of very long chain fatty acids （VLCFA） in plasma is the special test for diagnosis. The treat ment for the disease is still very difficult. Bone marrow transplantation,genetic therapy might be another option for the patients in the early clinical stages.

关 键 词：脑白质营养不良 儿童 临床 影像学 

分 类 号：R742.89[医药卫生—神经病学与精神病学]