Meneses Marcus, Manteghinejad Amirreza, Gupta Alka, Cerron-Vela Carmen R, Reis Teixeira Sara, Whitehead Matthew T
From the Department of Radiology (M.M., A.M., C.R.C.-V., S.R.T., M.T.W.), Children's Hospital of Philadelphia, Perelman School of Medicine (M.T.W.), University of Pennsylvania, Philadelphia, PA, USA and Neuroradiology (A.G.), SUNY Upstate Medical University, Syracuse, NY, USA.
AJNR Am J Neuroradiol. 2026 Mar 5. doi: 10.3174/ajnr.A9277.
Congenital cytomegalovirus (cCMV) is the leading infectious cause of birth defects in the United States; its spectrum of MRI findings is broad, with cerebellar abnormalities scarcely reported in the literature. We aim to describe the neuroimaging spectrum of cerebellar anomalies and malformations in patients with cCMV infection and their associations with other typical cCMV findings in prenatal and postnatal brain MRI.
We conducted a single-center retrospective observational study at a quaternary children's hospital. Included patients had fetal and/or postnatal brain MRI and confirmed congenital cCMV infection. Age-matched controls were also analyzed. Two neuroradiologists evaluated cerebellar morphology on fetal and postnatal brain MRIs; one determined cerebellar size and documented other common cCMV imaging features. Statistical analyses included paired -tests, Cohen's , McNemar's, and Chi-square tests, with inter-rater reliability assessed by Cohen's Kappa and Phi coefficient.
Seventy-two MRIs (64 patients) were included from 36 CMV+ and 36 controls. In the CMV+ group, 17 MRIs (47.2%) were fetal (median gestational age: 30 weeks [IQR: 23-33.6]), and 19 (52.8%) were postnatal (median age: 4.23 months [IQR: 0.36-11.89]). Eight patients underwent both fetal and postnatal imaging. Cerebellar hemisphere and vermian dysmorphology were seen in 10 fetal MRIs (58.8%). Postnatally, the cerebellar hemispheres were abnormal in 11 (57.9%) MRIs, and the vermis in 9 (47.4%), with dysfolia/dysplasia being the most prevalent malformation (57.9% and 47.4%, respectively). Interrater reliability for identifying cerebellar abnormalities showed moderate agreement (kappa=0.665). Vermis height (p=0.02) and anteroposterior diameter (p<0.001) were smaller in CMV+ postnatal MRIs, but not in fetal studies. All cases with cerebellar abnormalities also had at least one other CMV-related finding (φ =0.581).
cCMV-associated cerebellar malformations are more prevalent than previously reported in the literature. Cerebellar abnormalities were nearly as frequent or more frequent than many of the typically reported cCMV features, and were always found in association with other typical imaging findings. The cerebellum requires careful evaluation in all cases of suspected cCMV.
先天性巨细胞病毒（cCMV）感染是美国出生缺陷的主要感染性病因；其MRI表现谱广泛，而文献中关于小脑异常的报道较少。我们旨在描述cCMV感染患者小脑异常和畸形的神经影像学表现谱，以及它们与产前和产后脑MRI中其他典型cCMV表现的相关性。
我们在一家四级儿童医院进行了一项单中心回顾性观察研究。纳入的患者有胎儿期和/或出生后脑MRI检查结果，且确诊为先天性cCMV感染。同时对年龄匹配的对照组进行了分析。两名神经放射科医生评估胎儿期和出生后脑MRI上的小脑形态；一名医生确定小脑大小并记录其他常见的cCMV影像学特征。统计分析包括配对t检验、Cohen's d、McNemar检验和卡方检验，通过Cohen's Kappa和Phi系数评估评分者间信度。
共纳入72例MRI检查（64例患者），其中36例为CMV阳性组，36例为对照组。在CMV阳性组中，17例MRI检查（47.2%）为胎儿期检查（中位孕周：30周[四分位间距：23 - 33.6周]），19例（52.8%）为出生后检查（中位年龄：4.23个月[四分位间距：0.36 - 11.89个月]）。8例患者同时接受了胎儿期和出生后影像学检查。10例胎儿MRI检查（58.8%）可见小脑半球和蚓部形态异常。出生后，11例MRI检查（57.9%）的小脑半球异常，9例（47.4%）的蚓部异常，小叶发育异常/发育不全是最常见的畸形（分别为57.�%和47.4%）。识别小脑异常的评分者间信度显示中度一致性（kappa = 0.665）。CMV阳性组出生后MRI检查中蚓部高度（p = 0.02）和前后径（p < 0.001）较小，但胎儿期研究中未见此情况。所有小脑异常病例均至少有一项其他与CMV相关的表现（φ = 0.581）。
cCMV相关的小脑畸形比文献中先前报道的更为普遍。小脑异常的发生率与许多典型报道的cCMV特征相近或更高，并且总是与其他典型影像学表现相关。对于所有疑似cCMV的病例，都需要仔细评估小脑情况。
