Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16
Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16
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DOI：
10.1002/ana.10520
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发表时间：
2003-05-01
影响因子：
11.2
通讯作者：
Walsh, CA
中科院分区：
文献类型：
--
作者：
Chang, BS;Piao, XH;Walsh, CA
多小回畸形是一种常见的皮质发育畸形，其特征是小回数量过多和皮质层状异常。区域特异性双侧对称性多小回症的多重综合征已被报道。我们之前描述了两个双侧额顶多小回症（BFPP）的家族，这是一种常染色体隐性综合征，我们定位到染色体16q12-21上的一个位点。在这里，我们将我们的观察扩展到来自10个种类的19名患者，所有患者都与染色体16q位点相关，从而使我们能够详细定义BFPP的临床和放射学特征。该综合征的特征是至少中度严重的整体发育迟缓，癫痫发作，共轭凝视异常，双侧锥体和小脑体征。磁共振成像显示对称性多小回症对额顶叶区影响最严重，脑室肿大，双侧白质信号改变，脑干和小脑结构较小。我们已经完善了我们的遗传图谱，并描述了两个明显的创始单倍型，其中一个存在于两个患有BFPP和相关小头畸形的家庭中。由于我们的11例患者最初被分类为有其他畸形，BFPP综合征似乎比以前认识到的更常见，并且可能经常误诊。
Polymicrogyria is a common malformation of cortical development characterized by an excessive number of small gyri and abnormal cortical lamination. Multiple syndromes of region-specific bilateral symmetric polymicrogyria have been reported. We previously have described two families with bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive syndrome that we mapped to, a locus on chromosome 16q12-21. Here, we extend our observations to include 19 patients from 10 kindreds, all linked to the chromosome 16q locus, allowing us to define the clinical and radiological features of BFPP in detail. The syndrome is characterized by global developmental delay of at least moderate severity, seizures, dysconjugate gaze, and bilateral pyramidal and cerebellar signs. Magnetic resonance imaging demonstrated symmetric polymicrogyria affecting the frontoparietal regions most severely, as well as ventriculomegaly, bilateral white matter signal changes, and small brainstem and cerebellar structures. We have refined our genetic mapping and describe two apparent founder haplotypes, one of which is present in two families with BFPP and associated microcephaly. Because 11 of our patients initially were classified as having other malformations, the syndrome of BFPP appears to be more common than previously recognized and may be frequently misdiagnosed.