TheFetus.net

Case of the Week #515

Murat Kaya

Affiliation: Department of Radiology, Aydın Gynecology and Pediatrics Hospital, Aydın, Turkey.

Posting Dates: February 27, 2020 - March 12, 2020

Case report:  A healthy 30-year-old woman was referred for second level ultrasound scan at 20 weeks of gestation. Previous personal, familial and obstetrical history was noncontributory. The following images were obtained.

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Image 1
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Image 2
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Image 3
Video 1

A MRI was done at 20 weeks of pregnancy.

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Image 4

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Answer

We present a case of rhombencephalosynapsis.

The images revealed an enlarged-white cerebellum and vermian agenesis.

  • Images 1-3; video 1: 2D images of the fetal head in transverse view demonstrate absent vermis, echogenic cerebellum without normal clefting between the cerebellar hemispheres, and a single-lobed cerebellum.
  • Image 4: MRI T2 axial image supports the ultrasound findings and confirmed the suspected diagnosis of rhombencephalosynapsis.

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