Neglected right diaphragmatic hernia with transthoracic herniation of gallbladder and malrotated left liver lobe in an adult

Abstract Diaphragmatic hernias are commonly encountered in radiological practice, especially in pediatric patients. Delayed presentation of diaphragmatic hernias can occur in children and less frequently in adult patients. We present an extremely rare case of a 15-year-old male patient with recurrent attacks of cholestatic hepatitis who has been misdiagnosed to have primary sclerosing cholangitis and was planned for liver transplantation. On imaging, the patient was found to have neglected right diaphragmatic hernia causing hypogenesis of the right hemithorax and right lower lung lobe. A transthoracic herniation of gallbladder and malrotated left liver lobe is also diagnosed on imaging. Biliary dilatation with transition point at the diaphragmatic hernia neck was identified. Major hepatic anomaly such as liver malformation is an exceedingly rare case with only 3 reported cases in the literature. In our case, the patient suffered from recurrent cholestatic hepatitis and unfortunate misdiagnosis with primary sclerosing cholangitis, which have delayed his appropriate management. In addition, the patient was found to have interrupted IVC with azygos and hemiazygos continuation without evidence of heterotaxy syndrome.