Cortical dysgenesis in 2 patients with chromosome 22q11 deletion
Cortical dysgenesis in 2 patients with chromosome 22q11 deletion
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DOI：
10.1034/j.1399-0004.2000.580111.x
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发表时间：
2000-07-01
影响因子：
3.5
通讯作者：
Scambler, P
中科院分区：
文献类型：
--
作者：
Bird, LM;Scambler, P
本研究报告了两例染色体22q11缺失和皮质发育不全（脑回异常）的患者。其中一位有单侧马蹄内翻足，并有多个特征提示迪乔治综合征（DGS），另一位表现为腿部不对称和癫痫发作，随后被确认为腭心面综合征（VCFS）。在每例患者中，在肢体异常的对侧半球发现了脑回异常。在DGS和VCFS中报告了广泛的中枢神经系统异常，包括3例既往报告的脑回异常（无脑回畸形、小脑回畸形）。本文报道的2例患者加强了22q11缺失谱与皮质发育不全之间的关联，但潜在的发病机制（原发性神经迁移与血管破坏）仍不清楚。
Two patients with chromosome 22q11 deletion and cortical dysgenesis (gyral abnormalities) are reported in this study. One had unilateral clubfoot in addition to multiple features suggestive of the Di George syndrome (DGS), and the other presented with leg asymmetry and seizures, with subsequent recognition of the velo-cardio-facial syndrome (VCFS). In each patient, gyral abnormalities were identified in the hemisphere contralateral to the limb abnormality. A wide range of central nervous system abnormalities have been reported in DGS and VCFS, including three prior reports of gyral abnormalities (lissencephaly, microgyria). The 2 patients reported herein strengthen the association between the 22q11 deletion spectrum and cortical dysgenesis, but the underlying pathogenetic mechanism (primary neural migration vs, vascular disruption) remains unclear.