Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation
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DOI：
10.1093/brain/aws162
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发表时间：
2012-08-01
期刊：
影响因子：
14.5
通讯作者：
Grijalvo-Perez, Ana Maria
中科院分区：
文献类型：
--
作者：
Zaki, Maha S.;Saleem, Sahar N.;Grijalvo-Perez, Ana Maria
我们描述了来自三个没有血缘关系的埃及血缘家庭的六个病例，他们在间脑-中脑交界处水平上有一种新的特征性脑畸形。脑磁共振成像显示间脑-中脑交界处发育不良，在轴位切片上，中脑呈典型的蝴蝶状轮廓。其他影像特征包括不同程度的幕上脑室扩张和发育不良，以完全发育迟缓。弥散张量成像显示弥漫性髓鞘减少，缺乏可识别的皮质脊髓束。所有患者均表现为严重的认知障碍、产后进行性小头畸形、轴性低眼压、痉挛性四肢瘫痪和癫痫发作。自闭症的特征在较老的病例中被注意到。马蹄内翻足、非梗阻性心肌病和持续性原始玻璃体增生症是另外两个家系的发现。其中一名患者因脑积水需要分流术；然而，脑室大小没有改变，提示发育不良而不是梗阻。我们提出“间脑-中脑交界处发育不良”这个术语来描述这种常染色体隐性遗传畸形。
We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation.