Neuropathology of 22q11 Deletion Syndrome in an Infant
Neuropathology of 22q11 Deletion Syndrome in an Infant
复制标题
婴儿 22q11 缺失综合征的神经病理学
DOI：
10.2350/13-11-1399-cr.1
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发表时间：
2014
影响因子：
1.9
通讯作者：
K. McFadden
中科院分区：
文献类型：
--
作者：
P. Wu;L. Teot;G. Murdoch;A. Paula Monaghan;K. McFadden
22q11缺失综合征(22q11DS)是人类最常见的微缺失综合征，也是与精神病和自闭症谱系障碍最相关的染色体疾病之一。到目前为止，只有2例22q11DS的神经病理学研究被报道。发现包括多小脑回、神经元异位、皮质下白质(间质)神经元过多、显著的白质胶质化/髓鞘减少，以及微血管病变。在这里，我们报告了一个3个月大的婴儿，有记录的22q11DS，法洛四联症和肺闭锁。大脑显示出曲折的脑血管和比例较小的枕叶。组织学检查显示脑白质病理和皮质分层的细微差异，包括与年龄匹配的对照组样本相比，间质白质神经元过多。DARPP-32+中棘神经元在前上尾状核增加了15%。在这首例患有22q11DS的婴儿的神经病理学报告中，其发现与先前报道的表现相似，可能继发于血流灌注问题、发育性微血管病变和额叶皮质发育异常。
The 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and one of the chromosomal conditions most associated with psychosis and autism spectrum disorder. To date, only 2 neuropathologic studies of 22q11DS have been reported. Findings included polymicrogyria, neuronal heterotopias, excess subcortical white-matter (interstitial) neurons, significant white-matter gliosis/hypomyelination, and microvasculopathy. Here, we report on a 3-month-old infant with documented 22q11DS, tetralogy of Fallot, and pulmonary atresia. The brain exhibited tortuous cerebral vessels and proportionately smaller occipital lobes. Histologic examination revealed cerebral white-matter pathology and subtle differences in cortical lamination, including an excess of interstitial white-matter neurons compared with a sample of age-matched controls. There was a 15% increase in DARPP-32+ medium spiny neurons in the anterior-superior caudate. In this first neuropathologic report of an infant with 22q11DS, the findings were similar to previously reported manifestations and are likely secondary to perfusion issues, developmental microvasculopathy, and abnormal frontal cortical development.
影响因子：
2.7
作者：
Volpe, Joseph J.
通讯作者：
Volpe, Joseph J.