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2010-11-24-11 Answer to the case of the week #285 © Cuillier

Answer to the case of the week #285

January 20, 2011 - February 3, 2011.

Fabrice Cuillier, MD.*, J.L. Alessandri, MD.**, F.Cartault, MD. ***, L.Vinatier MD.*

*   Service de Gynécologie-Obstétrique, Hôpital Félix Guyon, Saint-Denis de La Réunion, France.
**  Service de Néonatologie, Hôpital Félix Guyon, 97400 Saint-Denis, La Réunion. France.
*** Service de Cytogénétique, Hôpital Félix Guyon, 97400 Saint-Denis, La Réunion. France.

Case report

This is a case of a 26-year-old G3 P2 with one previous cesarean section who was referred to our antenatal unit at 25 weeks of gestation. The patient had a diabetes mellitus, her family history was unremarkable.

The ultrasound examination showed the following findings: agenesis of the right kidney, agenesis of the ductus venosus with suprahepatic connection of the umbilical vein to the right atrium and replaced umbilical artery. Umbilical artery was replaced to the superior mesenteric artery (replaced umbilical artery or aberrant umbilical artery or persistent vitelline artery). It originated from the abdominal aorta and connected directly to the umbilical cord. The diameter of the umbilical artery was of the same size as of the aorta. No umbilical arteries were detected in the normal location, adjacent to the urinary bladder after branching off the internal iliac arteries. Umbilical cord had only two vessels.
Amniocentesis showed normal karyotype, 46 XX.

Patient was followed up every 2 weeks. Ultrasound examination around 31 weeks showed incipient heart failure. Patient delivered spontaneously at 37 weeks of gestation, baby girl of 2500 grams.

The postnatal adaptation was difficult, complicated by progressive pulmonary hypertension. The abnormal vascularization was seen postnatally, the abnormal vessel was noted in the abdomen between the aorta and umbilicus. This finding diminished when vessel obliterated within the 1st month of life. CT images showed horseshoe kidney, not a renal agenesis as we assumed according to our ultrasound examination. Unfortunately, the baby died 6 weeks after delivery probably due to pulmonary hypertension, parents refused the autopsy. Molecular genetic testing confirmed mutation in SOS1 gene which is characteristic for Noonan syndrome.

Images 1,2: Image 1 shows a 3D-image of the fetal face with a thick philtrum. Image 2 shows umbilical vein connecting to straight to the right atrium.

Images 3-6
: Images show umbilical vein draining to the right atrium.

Images 7,8: Images show sagittal view of the umbilical artery replaced to the superior mesenteric artery.

Images 9,10: Image 9 shows the transverse view of the umbilical artery originating from the aorta. Image 10 shows Doppler of the umbilical artery.

Images 11,12: Image 11 shows 2 vessel cord, there is single umbilical artery. Image 12 shows the "agenesis" of the right kidney.

Videos 1-3: Doppler imaging showing replaced umbilical artery and agenesis of the ductus venosus.


Images 13,14: CT images of the neonate, image 13 shows the left renal artery and a horseshoe kidney. Image 14 shows the vessel branching off the abdominal aorta, running towards the umbilicus.

This is the answer of Javier Cortejoso from Spain. Enjoy!
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