22q11.2缺失综合征的偶然影像学发现。
Incidental radiologic findings in the 22q11.2 deletion syndrome.
作者信息
Schmitt J E, Yi J J, Roalf D R, Loevner L A, Ruparel K, Whinna D, Souders M C, McDonald-McGinn D M, Yodh E, Vandekar S, Zackai E H, Gur R C, Emanuel B S, Gur R E
机构信息
From the Department of Radiology (J.E.S., L.A.L.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania Department of Psychiatry (J.J.Y.).
出版信息
AJNR Am J Neuroradiol. 2014 Nov-Dec;35(11):2186-91. doi: 10.3174/ajnr.A4003. Epub 2014 Jun 19.
BACKGROUND AND PURPOSE
The 22q11.2 deletion syndrome is a common genetic microdeletion syndrome that results in cognitive delays and an increased risk of several psychiatric disorders, particularly schizophrenia. The current study investigates the prevalence of incidental neuroradiologic findings within this population and their relationships with psychiatric conditions.
MATERIALS AND METHODS
Brain MR imaging from 58 individuals with 22q11.2 deletion syndrome was reviewed by board-certified radiologists by using standard clinical procedures. Intracranial incidental findings were classified into 8 categories and compared with a large typically developing cohort.
RESULTS
The rate of incidental findings was significantly higher (P < .0001) in 22q11.2 deletion syndrome compared with typically developing individuals, driven by a high prevalence of cavum septum pellucidum (19.0%) and white matter abnormalities (10.3%). Both of these findings were associated with psychosis in 22q11.2 deletion syndrome.
CONCLUSIONS
Cavum septum pellucidum and white matter hyperintensities are significantly more prevalent in patients with the 22q11.2 deletion syndrome and may represent biomarkers for psychosis.
背景与目的
22q11.2缺失综合征是一种常见的遗传性微缺失综合征，可导致认知发育迟缓以及多种精神疾病风险增加，尤其是精神分裂症。本研究调查了该人群中偶然发现的神经影像学结果的患病率及其与精神疾病的关系。
材料与方法
由经过委员会认证的放射科医生采用标准临床程序对58例22q11.2缺失综合征患者的脑部磁共振成像进行了评估。颅内偶然发现的结果被分为8类，并与一大群发育正常的对照人群进行了比较。
结果
与发育正常的个体相比，22q11.2缺失综合征患者的偶然发现率显著更高（P < .0001），这主要是由于透明隔腔（19.0%）和白质异常（10.3%）的高患病率所致。这两种发现均与22q11.2缺失综合征中的精神病有关。
结论
透明隔腔和白质高信号在22q11.2缺失综合征患者中明显更为普遍，可能代表精神病的生物标志物。
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