Abnormal myelination in Angelman syndrome
Abnormal myelination in Angelman syndrome
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DOI：
10.1016/j.ejpn.2008.04.005
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发表时间：
2009-05-01
影响因子：
3.1
通讯作者：
Wolf, Nicole I.
中科院分区：
文献类型：
--
作者：
Harting, Inga;Seitz, Angelika;Wolf, Nicole I.
通常认为Angelman综合征（OMIM # 105830）患者的脑影像学检查正常，但偶尔出现轻微脑萎缩。我们报告了9例遗传学证实的Angelman综合征患者，他们在7.5个月至5岁之间接受了磁共振成像（MRI）检查。在婴儿期检查的S患者的MRI显示髓鞘形成延迟和白色物质的缺陷。Angelman综合征的髓鞘形成迟缓和/或异常似乎是一种常见的发现，可能会误导诊断。这在评估可能患有Angelman综合征的婴儿时尤其重要，这些婴儿表现出非特异性临床特征，尚未出现特征性行为、语言和运动异常。(C)2008年欧洲儿科神经病学学会。由爱思唯尔有限公司出版。保留所有权利。
Patients with Angelman syndrome (OMIM # 105830) are generally thought to have normal brain imaging studies except for occasional minor cerebral atrophy. We report 9 patients with genetically proven Angelman syndrome, who were examined by magnetic resonance imaging (MRI) between the ages of 7.5 months and 5 years. MRI in the S patients examined during infancy revealed myelination delay and a deficit of white matter. Retarded and/or abnormal myelination in Angelman syndrome seems to be a common finding that may be diagnostically misleading. This is particularly important in the evaluation of infants with possible Angelman syndrome, who present with nonspecific clinical features and have not yet developed the characteristic behavioural, language, and movement abnormalities. (C) 2008 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.