From the Department of Clinical Genetics (R.O., G.M.S.M.), Erasmus MC University Medical Center, Rotterdam; Department of Genetics (R.O.), University Medical Center Utrecht, the Netherlands; Departments of Radiology and Biomedical Imaging and Neurology and Neurology (A.J.B.), University of California, San Francisco; Department of Neuroscience, Pharmacology and Child Health (R.G.), Children's Hospital A. Meyer and University of Florence, Italy; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute; and Departments of Pediatrics and Neurology (W.B.D.), University of Washington, Seattle.
Neurology. 2019 Oct 1;93(14):e1360-e1373. doi: 10.1212/WNL.0000000000008200. Epub 2019 Sep 4.
To better evaluate the imaging spectrum of subcortical heterotopic gray matter brain malformations (subcortical heterotopia [SUBH]), we systematically reviewed neuroimaging and clinical data of 107 affected individuals.
SUBH is defined as heterotopic gray matter, located within the white matter between the cortex and lateral ventricles. Four large brain malformation databases were searched for individuals with these malformations; data on imaging, clinical outcomes, and results of molecular testing were systematically reviewed and integrated with all previously published subtypes to create a single classification system.
Review of the databases revealed 107 patients with SUBH, the large majority scanned during childhood (84%), including more than half before 4 years (59%). Although most individuals had cognitive or motor disability, 19% had normal development. Epilepsy was documented in 69%. Additional brain malformations were common and included abnormalities of the corpus callosum (65/102 [64%]), and, often, brainstem or cerebellum (47/106 [44%]). Extent of the heterotopic gray matter brain malformations (unilateral or bilateral) did not influence the presence or age at onset of seizures. Although genetic testing was not systematically performed in this group, the sporadic occurrence and frequent asymmetry suggests either postzygotic mutations or prenatal disruptive events. Several rare, bilateral forms are caused by mutations in genes associated with cell proliferation and polarity (, , , ).
This study reveals a broad clinical and imaging spectrum of heterotopic malformations and provides a framework for their classification.
为了更好地评估皮质下异位灰质脑畸形（皮质下异位[SUBH]）的影像学谱，我们系统地回顾了 107 例受影响个体的神经影像学和临床数据。
SUBH 定义为位于皮层和侧脑室之间的白质内的异位灰质。我们在四个大型脑畸形数据库中搜索具有这些畸形的个体；系统地回顾了影像学、临床结果和分子检测结果的数据，并与所有以前发表的亚型进行整合，创建了一个单一的分类系统。
对数据库的审查显示，有 107 例 SUBH 患者，绝大多数在儿童期进行了扫描（84%），其中超过一半在 4 岁之前（59%）。虽然大多数个体有认知或运动障碍，但有 19%的个体发育正常。癫痫在 69%的患者中得到了记录。常见的其他脑畸形包括胼胝体异常（102 例中有 65 例[64%]），以及经常出现的脑干或小脑异常（106 例中有 47 例[44%]）。异位灰质脑畸形的范围（单侧或双侧）并不影响癫痫的发生或发病年龄。尽管该组未系统地进行基因检测，但散发性和频繁的不对称性提示存在合子后突变或产前破坏事件。几种罕见的双侧形式是由与细胞增殖和极性相关的基因突变引起的（、、、）。
本研究揭示了异位畸形的广泛临床和影像学谱，并为其分类提供了框架。
Zotero 插件
