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Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis
Authors:Sihem Darouich MD  Nadia Boujelbène MD  Jihen Amraoui MD  Naima Amraoui MD  Aida Masmoudi MD
Institution:1. Fetopathology Unit, Hospital Habib Bougatfa, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia;2. Department of Pathology, Salah Azaiez Institute, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia;3. Department of Obstetrics and Gynecology, Centre de Hospitalier de Sens, Sens, France;4. Clinic Rawabi, Bizerte, Tunisia;5. Department of Embryo-Fetopathology, Maternity and Neonatology Center, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
Abstract:Prenatal diagnosis of neonatal hemochromatosis (NH) is usually raised in front of fetal hepatomegaly and heterogeneous liver architecture. We describe a novel sonographic feature that may be associated with NH. Ultrasound demonstrated reticulonodular liver and distended gallbladder with multiple gallstones in a hydropic fetus. These abnormalities were confirmed to be consistent with NH after correlation with autopsy findings. This case report highlights the value of cholelithiasis in clinical suspicion of NH and the importance to consider this sonographic feature when the liver has abnormal texture.
Keywords:cholelithiasis  hydrops fetalis  neonatal hemochromatosis  prenatal diagnosis  ultrasonography
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