Prenatal discovery of Joubert syndrome associated with small bowel volvulus

Joubert syndrome and prenatal volvulus are difficult to diagnose during pregnancy. Joubert syndrome and related diseases should be considered in case of prenatal abnormal features of the fourth ventricle. Small bowel volvulus is also a surgical emergency because of the risk of intestinal necrosis be...

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Bibliographic Details
Published in:Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2016-03, Vol.23 (3), p.301-306
Main Authors: Aurégan, C, Donciu, V, Millischer, A-E, Khen-Dunlop, N, Deloison, B, Sonigo, P, Magny, J-F
Format: Article
Language:fre
Subjects:
Abnormalities, Multiple - diagnostic imaging
Adult
Cerebellum - abnormalities
Cerebellum - diagnostic imaging
Eye Abnormalities - complications
Eye Abnormalities - diagnostic imaging
Female
Humans
Intestinal Volvulus - complications
Intestinal Volvulus - diagnostic imaging
Intestine, Small - diagnostic imaging
Kidney Diseases, Cystic - complications
Kidney Diseases, Cystic - diagnostic imaging
Magnetic Resonance Imaging
Pregnancy
Prenatal Diagnosis
Retina - abnormalities
Retina - diagnostic imaging
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Summary:Joubert syndrome and prenatal volvulus are difficult to diagnose during pregnancy. Joubert syndrome and related diseases should be considered in case of prenatal abnormal features of the fourth ventricle. Small bowel volvulus is also a surgical emergency because of the risk of intestinal necrosis before or after delivery. This type of condition justifies the transfer of pregnant women to a specialized hospital where the newborn may receive appropriate care. We report the case of a 31-week and 4-day gestational-age fetus in whom intrauterine growth retardation and small-bowel volvulus were diagnosed. Additional imaging revealed associated Joubert syndrome. This highlights the need for regular ultrasound monitoring during pregnancy and the comanagement of obstetricians and pediatricians to provide appropriate care before and after delivery.
ISSN:1769-664X
DOI:10.1016/j.arcped.2015.12.019