CASE REPORT Prenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging Pedro Teixeira Castro, MD; 1 Ana Paula Pinho Matos, MD; 2 Heron Werner, PhD; 3 Pedro Daltro, PhD; 3 Tatiana Fazecas, MD; 3 Renata Nogueira, MD; 3 Edward Araujo Júnior, PhD 4 1 Department of Obstetrics and Gynecology, Escola de Medicina Souza Marques, Rio de Janeiro, Brazil 2 Department of Maternal and Child, Fluminense Federal University (UFF), Niteroi, Brazil 3 Department of Radiology, Clínica de Diagnóstico por Imagem (CDPI), Rio de Janeiro, Brazil 4 Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil Abstract Background: Caroli disease is a very rare congenital anomaly characterized by non-obstructive saccular or fusiform dilatation of the intrahepatic bile ducts. It is associated with bile stagnation and hepatolithiasis, which explain the recurrent cholangitis and portal hypertension as a consequence of congenital liver fibrosis. Although there are several reports of diagnosis in childhood and adult life, the prenatal diagnosis using conventional 2-D ultrasound is rare, with few reports in the literature. Case: We present a case of a 26-year-old primigravid woman at 24 weeks of gestation which 3-D ultrasound in the rendering mode clearly revealed the enlarged fetal kidneys and the increased abdominal volume, confirming the diagnosis of autosomal recessive polycystic kidney disease. The MRI was essential to the prenatal diagnosis of Caroli disease, identifying the congenital saccular dilations of intrahepatic bile ducts. Résumé Background : La maladie de Caroli est une anomalie congénitale très rare caractérisée par une dilatation sacciforme ou fusiforme non obstructive des voies biliaires intra-hépatiques. Elle est associée à une stagnation de la bile et à une lithiase intra-hépatique, qui expliquent la cholangite récurrente et l’hypertension portale secondaires à la fibrose hépatique congénitale. De nombreux cas ont été diagnostiqués chez des enfants et des adultes, mais le diagnostic prénatal au moyen d’une échographie traditionnelle 2D est rare, d’où le faible nombre de cas documentés. Case : Nous présentons le cas d’une femme primigeste de 26 ans chez qui une échographie 3D en mode rendu réalisée à 24 semaines de grossesse a permis de détecter, sans équivoque, une hypertrophie des reins fœtaux et une augmentation du volume abdominal fœtal et de confirmer le diagnostic de maladie polykystique des reins autosomique récessive. Une IRM a permis de repérer les dilatations sacciformes congénitales des voies biliaires intra-hépatiques, ce qui a été essentiel au diagnostic prénatal de la maladie de Caroli. Copyright ª 2017 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved. J Obstet Gynaecol Can 2017;-(-):1e4 https://doi.org/10.1016/j.jogc.2017.04.041 INTRODUCTION I n 1958, Jacques Caroli was the first to describe a rare congenital malformation characterized by non- obstructive saccular or fusiform dilatation of the intra- hepatic bile ducts. 1 Although there are several reports of diagnosis during the neonatal period and several of others diagnosed in childhood and adult life, the incidence of this malformation is 6,000-40,000 newborns. 2e4 The clinical presentation can range from neonatal renal dysfunction to the onset of recurrent cholangitis in adults. 5 However, although the symptoms are dynamic and progressive, the clinical presentation and progression are highly variable. 6 The prenatal diagnosis of Caroli disease and polycystic kidney disease was first reported in 1991 by Hussman et al. 7 when liver cysts and polycystic kidney disease were considered a spectrum of the same disorder with a possible genetic relation. In 1997, Torra et al. 8 indicated the pres- ence of an association between ductal plate malformation Key Words: Caroli disease, autosomal recessive polycystic kidney disease, 3-D ultrasound, MRI Corresponding Author: Prof. Edward Araujo Júnior, Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil. araujojred@terra.com.br Received on April 26, 2017 Accepted on April 26, 2017 - JOGC - 2017 l 1