Infant with Congenital CMV and Abnormal Brainstem Cerebellum: Is it only CMV? Considering the Differential Diagnosis

Background: congenital CMV may cause multiple brain anomalies. Spectrum and severity of brain malformations mainly depends on timing of infection. Abnormal small cerebellum is usually associated with early infection. Other findings that may be associated with early infection include microcephaly, lissencephaly, migration anomalies and ventriculomegaly.

Case Presentation: We present a case of a 2-month-old baby boy who presented with microcephaly and FTT. Initial assessment showed evidence of congenital CMV infection. The child was therefore referred to brain imaging. Brain MRI revealed global cerebellar and brainstem hypoplasia with `dragonfly` appearance on the coronal view. Other than mild ventriculomegaly, no additional significant supra-tentorial abnormalities were noted. A diagnosis of pontocerebellar hypoplasia was suggested according to the unique appearance and later confirmed on genetic analysis.

Conclusion: This report shows a unique case of coexisting 2 CNS disorders in the same infant. Both may potentially affect the brainstem and cerebellum.