Prenatal discovery of Joubert syndrome associated with small bowel volvulus

• Published in: Archives de pédiatrie : organe officiel de la Société française de pédiatrie Vol. 23; no. 3; pp. 301 - 306
• Main Authors: Aurégan, C, Donciu, V, Millischer, A-E, Khen-Dunlop, N, Deloison, B, Sonigo, P, Magny, J-F
• Format: Journal Article
• Language: French
• Published: France 01.03.2016
• 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
• ISSN: 1769-664X
• DOI: 10.1016/j.arcped.2015.12.019

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.