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22q11.2 缺失综合征的神经学挑战。

Neurologic challenges in 22q11.2 deletion syndrome.

机构信息

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

出版信息

Am J Med Genet A. 2018 Oct;176(10):2140-2145. doi: 10.1002/ajmg.a.38614. Epub 2018 Oct 26.

Abstract

Children with 22q11.2 deletion syndrome often come to medical attention due to signs and symptoms of neurologic dysfunction. It is imperative to understand the expected neurologic development of patients with this diagnosis in order to be alert for the potential neurologic complications, including cortical malformations, tethered cord, epilepsy, and movement disorders. We present an update of brain imaging findings from the CHOP 22q and You Center, a review of the current literature, and our current management practices for neurological issues.

摘要

患有 22q11.2 缺失综合征的儿童通常由于神经功能障碍的体征和症状而引起医疗关注。了解此类诊断患者的预期神经发育情况至关重要,以便警惕潜在的神经并发症,包括皮质畸形、脊髓栓系、癫痫和运动障碍。我们介绍了 CHOP 22q 和 You 中心的脑部影像学研究结果更新、对当前文献的回顾以及我们目前对神经问题的管理做法。

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