Neuroimaging findings in Macrocephaly-Capillary Malformation: A longitudinal study of 17 patients
Neuroimaging findings in Macrocephaly-Capillary Malformation: A longitudinal study of 17 patients
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DOI：
10.1002/ajmg.a.32040
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发表时间：
2007-12-15
影响因子：
2
通讯作者：
Graham, John M., Jr.
中科院分区：
文献类型：
--
作者：
Conway, Robert L.;Pressman, Barry D.;Graham, John M., Jr.
在这里，我们报告了 17 名未发表的大头畸形 - 毛细血管畸形 (M-CM) 患者的神经影像学结果和神经学变化。这种综合征传统上被称为先天性毛细血管扩张症 (M-CMTC)，但我们解释了为什么 M-CM 是这种过度生长综合征的更准确术语。我们分析了 17 名具有可用脑部 MRI 或 CT 扫描的患者，并将他们的发现与对已发表病例的综合审查确定的特征进行了比较。 T2 加权图像上信号增加的白质不规则性是常见的观察结果。超过一半患者的一个显着特征是小脑扁桃体突出，与婴儿期大脑快速生长和后颅窝逐渐拥挤相关。在四例此类病例中，我们确认扁桃体突出是后天性事件。与此同时，随着这些发现的发展，在许多小脑扁桃体突出症患者中观察到脑室扩大（经常阻塞）和硬脑膜静脉窦扩张，以及明显的 Virchow-Robin 间隙。我们推测，这些不寻常的特征表明后颅窝存在机械损害的动态过程，可能是由快速生长的小脑引发的，导致静脉引流充血，随后脑脊液重吸收受损，所有这些都会增加后颅窝压力并导致获得性扁桃体疝出。在该综合征中，我们区分先天性 Chiari I 畸形和获得性小脑扁桃体突出症。我们还观察到许多异常皮质形态发生的例子，包括局灶性皮质发育不良、主要涉及侧裂和岛叶区域的多小脑回，以及大脑和/或小脑不对称过度生长。其他发现包括透明隔腔或胼胝体增厚、胼胝体增厚、视神经鞘突出以及一例静脉窦血栓形成。一名患者在 5 岁时被发现额叶镰周围肿块类似脑膜瘤。这是 M-CM 中第二次明显出现这种特定肿瘤。 (C) 2007 Wiley-Liss, Inc.
Here, we report the neuroimaging findings and neurological changes in 17 unpublished patients with Macrocephaly-Capillary Malformation (M-CM). This syndrome has been traditionally known as Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC), but we explain why M-CM is a more accurate term for this overgrowth syndrome. We analyzed the 17 patients with available brain MRI or CT scans and compared their findings with features identified by a comprehensive review Of Published cases. White matter irregularities with increased signal on T2-weighted images were commonly observed findings. A distinctive feature in more than half the patients was cerebellar tonsillar herniation associated with rapid brain growth and progressive crowding of the posterior fossa during infancy. In four such cases, we confirmed that the tonsillar herniation was an acquired event. Concurrently, with the development of these findings, ventriculomegaly (frequently obstructive) and dilated dural venous sinuses were observed in conjunction with prominent Virchow-Robin spaces in many of those in whom cerebellar tonsil herniation had developed. We postulate that this constellation of unusual features suggests a dynamic process of mechanical compromise in the posterior fossa, perhaps initiated by a rapidly growing cerebellum, which leads to congestion of the venous drainage with subsequently compromised cerebrospinal fluid reabsorption, all of which increases the posterior fossa pressure and leads to acquired tonsillar herniation. We make a distinction between congenital Chiari I malformation and acquired cerebellar tonsil herniation in this syndrome. We also observed numerous examples of abnormal cortical morphogenesis, including focal cortical dysplasia, polymicrogyria which primarily involved the perisylvian and insular regions, and cerebral and/or cerebellar asymmetric overgrowth. Other findings included a high frequency of cavum septum pellucidum or vergae, thickened corpus callosum, prominent optic nerve sheaths and a single case of venous sinus thrombosis. One patient was found to have a frontal perifalcine mass resembling a meningioma at age 5 years. This is the second apparent occurrence of this specific tumor in M-CM. (C) 2007 Wiley-Liss, Inc.