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2012-11-21-14 Case of the week # 342 © Murad Esetov

Answer to the case of the week # 342

April 11, 2013 - April 25, 2013

Murad Esetov, MD, Gylnabat Bekeladze, MD, Elina Gyseinova, MD

Private Ultrasound practice “SONO”
Republic Hospital, Dagestan, Russia
Case report:

A 23-year-old patient (G1P0) was sent to our office at 20 weeks (+6 day) of gestational age with a fetal hydrocephaly. Her medical history was unremarkable.

Fetal ultrasound examination showed: 
Biometry was compatible with gestational age (in particular, cranial dimensions were within normal range).
Absent septum pellucidum
Bilateral ventriculomegaly (18 mm) and communication of the lobar horns 
The third ventricle measured 4.9 mm
The cerebellum was small (17 mm) 
The normal clefting between the cerebellar hemispheres and the vermis is not seen (the single-lobed cerebellum)
Rounded fastigial recess and absent primary fissure cerebellum
No extracranial abnormalities were detected.
Diagnosis of rhombencephalosynapsis was determined. The couple was counseled and decided to terminate the pregnancy. Autopsy was not performed.

Here are some of the ultrasonographic images that we obtained:

Image 1. Transabdominal axial fetal ultrasound image (1) showing dilatation of lateral  and third ventricles, absent septum pellucidum and communication of the lobar horns, small cerebellum without normal clefting between the cerebellar hemispheres and the vermis (single-lobed cerebellum). 

Image 2. This 3D reconstruction TUI showing normal cleavage of the hemispheres and lateral ventricles separated by the falx.

Image 3. This 3D reconstruction transabdominal fetal ultrasound  image.  Coronal plane (B) showing that the top of the cerebellum is dome-shaped (arrows). Sagittal plane (C) showing a rounded fastigial recess (dotted line), hypoechoic homogeneous cerebellum without primary fissure and on the other hand hyperechoic outer contour cerebellum (arrows)

Image 4. This 3D volume image show partial synostosis of metopic suture 

Image 5.  Sagittal plane; the artery corpus callosum.  Corpus callosum could not be examined

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