MR imaging findings in children with merosin-deficient congenital muscular dystrophy.
MR imaging findings in children with merosin-deficient congenital muscular dystrophy.
复制标题
患有 Merosin 缺乏的先天性肌营养不良症儿童的 MR 成像结果。
DOI：
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发表时间：
1999
期刊：
影响因子：
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通讯作者：
H. Marks
中科院分区：
文献类型：
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作者：
P. Caro;M. Scavina;E. P. Hoffman;E. Pegoraro;H. Marks
背景和目的
我们的目的是确定裂殖蛋白缺陷型先天性肌营养不良症儿童的脑部MR成像特征。
方法
我们回顾了三名患有缺裂蛋白型先天性肌营养不良症的儿童的脑部MRI表现，以确定是否存在任何大脑或小脑发育异常或白色物质异常。
结果
在所有三名患者中，大脑和小脑的形成正常，没有神经元迁移异常的证据。所有三名患者的大脑都有异常的白色物质，胼胝体、内囊、小脑和脑干都有。
结论
缺裂粒蛋白的先天性肌营养不良患儿的脑部MR成像显示一致的白色物质异常。我们推测与merosin缺乏相关的血脑屏障的破坏导致水含量增加，导致异常的白色物质信号强度。
BACKGROUND AND PURPOSE
Our purpose was to determine the brain MR imaging characteristics of merosin-deficient congenital muscular dystrophy in children.
METHODS
We reviewed the MR imaging findings of the brain in three children with known merosin-deficient congenital muscular dystrophy to determine the presence of any cerebral or cerebellar abnormalities of development or abnormalities of the white matter.
RESULTS
In all three patients, there was normal formation of the cerebrum, the cerebellum, and no evidence of neuronal migration anomalies. All three patients had abnormal white matter in the cerebrum, with sparing of the corpus callosum, internal capsule, cerebellum, and brain stem.
CONCLUSION
MR imaging of the brain in children with merosin-deficient congenital muscular dystrophy reveals a consistent pattern of white matter abnormality. We postulate that disruption of the blood-brain barrier associated with merosin deficiency leads to increased water content, resulting in abnormal white matter signal intensity.
先天性肌营养不良症伴原发性层粘连蛋白 α2（merosin）缺乏，表现为炎症性肌病。
影响因子：
11.2
作者：
Pegoraro,E;Mancias,P;Swerdlow,SH;Raikow,RB;Garcia,C;Marks,H;Crawford,T;Carver,V;DiCianno,B;Hoffman,EP
通讯作者：
Hoffman,EP