Valanne L, Pihko H, Katevuo K, Karttunen P, Somer H, Santavuori P
Department of Radiology, Children's Hospital, University of Helsinki, Finland.
Neuroradiology. 1994 Aug;36(6):473-6. doi: 10.1007/BF00593687.
Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy. Their features overlap, and differential diagnosis presents some difficulties. We examined the brain of 10 patients with MEB using high-field MRI and found a uniform pattern consisting of a pachygyria-type cortical migration disorder, septal and corpus callosum defects and severe hypoplasia of the pons in 7 of them.
肌肉-眼-脑（MEB）疾病属于罕见的先天性综合征谱系，伴有脑移行障碍和肌肉营养不良，与沃克-沃尔堡综合征和福山先天性肌营养不良症一样。它们的特征相互重叠，鉴别诊断存在一定困难。我们使用高场磁共振成像（MRI）对10例MEB患者的脑部进行了检查，发现其中7例呈现出一种统一的模式，包括巨脑回型皮质移行障碍、间隔和胼胝体缺陷以及脑桥严重发育不全。
