Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome
Periventricular nodular heterotopia and bilateral intraventricular xanthogranulomas in 22q11.2 deletion syndrome
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22q11.2 缺失综合征的脑室周围结节性异位和双侧脑室内黄色肉芽肿
DOI：
10.1016/j.ehpc.2016.09.003
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发表时间：
2017
影响因子：
--
通讯作者：
T. Kiehl
中科院分区：
文献类型：
--
作者：
M. Baharnoori;D. Mandell;D. Andrade;E. Chow;A. Bassett;T. Kiehl
22q11.2缺失综合征（22q11DS）是人类最常见的致病性拷贝数变异。神经精神表型，包括精神分裂症，是突出的。对患有这种综合征的个体的成像研究显示出各种异常，这些异常可能表明异常的神经元迁移。在这里，我们提出了神经影像学和神经病理学特征的22 q11 DS患者双侧脑室周围结节性异位（PNH）和脑室内黄色肉芽肿，经尸检确定。
22q11.2 deletion syndrome (22q11DS) is the most common pathogenic copy number variant in humans. Neuropsychiatric phenotypes, including schizophrenia, are prominent. Imaging studies of individuals with this syndrome show a variety of abnormalities that may indicate abnormal neuronal migration. Here we present the neuroimaging and neuropathologic features of a 22q11DS patient with bilateral periventricular nodular heterotopias (PNH) and intraventricular xanthogranulomas that were identified by post-mortem examination.