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胼胝体发育异常的儿童及青少年的临床特征与相关异常情况。

Clinical features and associated abnormalities in children and adolescents with corpus callosal anomalies.

作者信息

Kim Young Uhk, Park Eun Sook, Jung Soojin, Suh Miri, Choi Hyo Seon, Rha Dong-Wook

机构信息

Department of Rehabilitation Medicine and Research Institute of Rehabilitation Medicine, Yonsei University College of Medicine, Seoul, Korea.

出版信息

Ann Rehabil Med. 2014 Feb;38(1):138-43. doi: 10.5535/arm.2014.38.1.138. Epub 2014 Feb 25.

DOI:10.5535/arm.2014.38.1.138
PMID:24639939
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3953358/
Abstract

Callosal anomalies are frequently associated with other central nervous system (CNS) and/or somatic anomalies. We retrospectively analyzed the clinical features of corpus callosal agenesis/hypoplasia accompanying other CNS and/or somatic anomalies. We reviewed the imaging and clinical information of patients who underwent brain magnetic resonance imaging in our hospital, between 2005 and 2012. Callosal anomalies were isolated in 13 patients, accompanied by other CNS anomalies in 10 patients, associated with only non-CNS somatic anomalies in four patients, and with both CNS and non-CNS abnormalities in four patients. Out of 31 patients, four developed normally, without impairments in motor or cognitive functions. Five of nine patients with cerebral palsy were accompanied by other CNS and/or somatic anomalies, and showed worse Gross Motor Function Classification System scores, compared with the other four patients with isolated callosal anomaly. In addition, patients with other CNS anomalies also had a higher seizure risk.

摘要

胼胝体异常常与其他中枢神经系统(CNS)和/或躯体异常相关。我们回顾性分析了伴有其他CNS和/或躯体异常的胼胝体发育不全/发育不良的临床特征。我们回顾了2005年至2012年间在我院接受脑磁共振成像检查的患者的影像学和临床资料。13例患者为孤立性胼胝体异常,10例伴有其他CNS异常,4例仅伴有非CNS躯体异常,4例同时伴有CNS和非CNS异常。在31例患者中,4例发育正常,运动或认知功能无损害。9例脑瘫患者中有5例伴有其他CNS和/或躯体异常,与另外4例孤立性胼胝体异常患者相比,其粗大运动功能分类系统评分更低。此外,伴有其他CNS异常的患者癫痫发作风险也更高。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbe7/3953358/96f70817e53d/arm-38-138-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbe7/3953358/96f70817e53d/arm-38-138-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbe7/3953358/96f70817e53d/arm-38-138-g002.jpg

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本文引用的文献

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Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum.孤立性胼胝体发育不全胎儿的产前诊断与神经发育预后
Ultrasound Obstet Gynecol. 2011 Mar;37(3):290-5. doi: 10.1002/uog.8882.
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Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus.胼胝体发育不全:胎儿相关异常的磁共振成像分析
胼胝体压部:胚胎学、解剖学、功能与影像学表现及病理生理学假说。
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Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.1q44区域缺失和易位断点的定位表明,丝氨酸/苏氨酸激酶AKT3与出生后小头畸形和胼胝体发育不全有关。
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