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Published on: July 24, 2016
Cerebellar Malformations in Congenital Cytomegalovirus Infection
Marcus Meneses1, Amirreza Manteghinejad2, Alka Gupta3
1From the Department of Radiology (M.M., A.M., C.R.C.-V., S.R.T., M.T.W.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania silvadecam@chop.edu.
Background And Purpose:
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.
Materials And Methods:
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 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 t tests, Cohen d, McNemar, and χ2 tests, with interrater reliability assessed by Cohen κ and φ coefficient.
Results:
Seventy-two MRIs (64 patients) were included from 36 cytomegalovirus (CMV)-positive patients and 36 controls. In the CMV-positive group, 17 MRIs (47.2%) were fetal (median gestational age: 30 weeks [interquartile range {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 (κ = 0.665). Vermis height (P = .02) and anterior-posterior diameter (P < .001) were smaller in CMV-positive postnatal MRIs, but not in fetal studies. All cases with cerebellar abnormalities also had at least 1 other CMV-related finding (φ = 0.581).
Conclusions:
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.
Insights
Congenital cytomegalovirus (cCMV) can cause cerebellar malformations, which are more common than previously thought. These findings, identified via MRI, always accompany other typical cCMV imaging features.
Area of Science:
- Neuroradiology
- Pediatric Neurology
- Infectious Diseases
Background:
- Congenital cytomegalovirus (cCMV) is the leading infectious cause of birth defects in the US.
- Cerebellar abnormalities are infrequently reported in cCMV literature.
- Neuroimaging findings in cCMV are diverse, necessitating a comprehensive understanding.
Purpose of the Study:
- To detail the spectrum of cerebellar anomalies and malformations in cCMV.
- To associate these cerebellar findings with other typical cCMV imaging features.
- To analyze both prenatal and postnatal brain MRI findings in cCMV.
Main Methods:
- Retrospective observational study at a quaternary children's hospital.
- Inclusion of patients with confirmed cCMV and fetal/postnatal brain MRI.
- Evaluation of cerebellar morphology and common cCMV features by two neuroradiologists.
Main Results:
- Cerebellar dysmorphology was observed in 58.8% of fetal and 57.9% of postnatal cCMV MRIs.
- Vermis height and diameter were smaller in postnatal cCMV MRIs compared to controls.
- All cases with cerebellar abnormalities also presented with other typical cCMV imaging findings.
Conclusions:
- Cerebellar malformations are a more prevalent feature of cCMV than previously recognized.
- Cerebellar abnormalities on MRI should be carefully assessed in all suspected cCMV cases.
- These findings highlight the importance of thorough cerebellar evaluation in cCMV diagnosis.

