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2012-07-23-09 Case of the week #335 © Bronshtein www.TheFetus.net


Answer to the case of the week #335


January 03, 2013 - January 17, 2013
 

Moshe Bronshtein, MD

Department Obstetrics Gynecology, Rambam Medical Center, Haifa, 31096 Israel.

(Edited by F.G.)


Case report

A 25-year-old G2P1 woman presented to our unit at 24 weeks of pregnancy. Her ultrasound scan at 15 weeks was normal. Husband's mother and grandmother suffered from recurrent episodes of nasal bleeding.

Our examination at 24 weeks revealed remarkable turbulent flow and pulsation at the level of the cerebral circle of Willis concordant with arteriovenous malformation. As a consequence of the AV malformation a huge pulsating reversed flow in the upper venous system was discernible. 

The parents opted for the pregnancy termination. Following genetic study of the fetus confirmed our presumed diagnosis of the Osler - Rendu - Weber disease (OMIM: #187300ICD+; Teleangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber; HHT; ORW disease). The same diagnosis was known in father's mother and grandmother.

Images 1, 2: 24 weeks of pregnancy; the image 1 shows transverse scan of the fetal head at the level of circle of Willis with remarkable turbulent, high diastolic flow (low resistance) within the region concordant with arteriovenous malformation. The image 2 shows 3D image of the same AV malformation as described on the image 1.

 

Videos 1, 2: 24 weeks of pregnancy; the videos show transverse color Doppler (video 1) and gray scale (video 2) scans of the fetal head at the level of circle of Willis with remarkable turbulent flow within the region concordant with arteriovenous malformation. Striking pulsation of the aneurysmatic AV malformation can be observed in both video clips.



Images 3, 4, 5, and 6: MRI images of the fetal head at 24 weeks of pregnancy; the images show dilated region of the AV malformation at the level of circle of Willis. In comparison with the ultrasound examination, the MRI is less informative in this case.

 

 



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