Case of the Week # 515

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Murat Kaya, MD1

February 27, 2020 - March 12, 2020

1. Department of Radiology, Aydın Gynecology and Pediatrics Hospital, Aydın, Turkey.

Case report

A healthy 30-year-old gravida was referred for second level ultrasound scan at 20 weeks of gestation.
Previous personal, familial and obstetrical history was non relevant.
Following images revealed the findings of the ultrasound examination:

Images 1-3; video 1.

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Image 4.

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Answer

Case report

A healthy 30-year-old gravida was referred for second level ultrasound scan at 20 weeks of gestation.
Previous personal, familial and obstetrical history was non relevant.
Following images revealed an enlarged-white cerebellum and vermian agnesis. A MRI was done at 20 weeks of pregnancy. The confirmed diagnosis was rhombencephalosynapsis.

Images 1-3; video 1: 2D images of the fetal head in transverse view absent vermis, echogenic cerebellum without normal clefting between the cerebellar hemispheres, single-lobed cerebellum.

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Image 4: MRI T2 axial image supports the ultrasound findings and confirmed the suspected diagnosis of rhombencephalosynapsis.

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