Agenesis of the corpus callosum: Clinical and genetic study in 63 young patients
Agenesis of the corpus callosum: Clinical and genetic study in 63 young patients
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DOI：
10.1016/j.pediatrneurol.2005.08.008
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发表时间：
2006-03-01
影响因子：
3.8
通讯作者：
Borgatti, R
中科院分区：
文献类型：
--
作者：
Bedeschi, MF;Bonaglia, MC;Borgatti, R
本研究报告了63例胼胝体发育不全患者的临床特征，他们接受了深入的遗传学、临床和实验室检测，目的是为了更好地描述相关的大范围畸形，并帮助临床医生进行诊断。完全发育不全30例，部分发育不全33例。伴发神经系统畸形的有14例(主要与后颅窝畸形有关)和10例完全性发育不全(更常见的是皮质发育畸形)。神经系统以外的器官和器官受累41例(归因于已知证候21例)。细胞遗传学检查发现可检测到的染色体异常(7例)和亚端粒重排(3例)。几乎所有病例均有神经运动功能障碍(58/63)。52例存在不同程度的智力低下，2例为临界型，9例智商正常。这项研究表明，没有独特的预后，因为这种情况是与广泛的临床表现有关，在正常范围和严重的精神运动延迟之间摇摆。(C)2006，Elsevier Inc.保留所有权利。
This study reports the clinical features of 63 patients with agenesis of the corpus callosum who received in-depth genetic, clinical, and laboratory testing with the aim to contribute to a better description of the large spectrum of associated malformations and to assist clinicians in the diagnosis. Thirty patients manifested complete agenesis and 33 patients displayed partial agenesis. Other associated nervous system malformations were detected in 14 patients with partial agenesis of the corpus callosum (mostly correlated to posterior fossa malformations) and in 10 patients with complete agenesis (more frequently associated with malformations of cortical development). Involvement of organs and apparatus other than the nervous system was present in 41 patients (ascribed to known syndromes in 21 cases). Cytogenetically detectable chromosomal abnormalities (7 patients) and subtelomeric rearrangements (3 patients) were found. Neuromotor skills were impaired in almost all cases (58/63). Mental retardation of different severity was present in 52 cases, whereas 2 patients were borderline and 9 patients had normal intelligence quotient. This study demonstrates that there is no unique prognosis for agenesis of the corpus callosum as this condition is associated with a broad range of clinical manifestations, oscillating between the limits of the norm and severe psychomotor delay. (c) 2006 by Elsevier Inc. All rights reserved.