ABSTRACT
Acute Budd-Chiari syndrome is a rare condition characterised by obstruction of hepatic venous outflow. We describe the case of a 52-year-old man, with a congenital Morgagni diaphragmatic hernia, who presented with acute onset abdominal pain, shortness of breath, lactic acidosis, hyperbilirubinaemia and transaminasaemia. Computed tomography revealed strangulation of the diaphragmatic hernia and extrinsic compression of the inferior vena cava from the herniated viscera. Emergency surgery was carried out to repair the hernia with a biosynthetic mesh, with complete resolution of the Budd-Chiari syndrome.
Subject(s)
Budd-Chiari Syndrome , Hernias, Diaphragmatic, Congenital , Vena Cava, Inferior , Constriction, Pathologic , Humans , Male , Middle Aged , Tomography, X-Ray Computed , Torso/diagnostic imagingABSTRACT
45,X/46,XX mosaicism was found in only one of four primary amniotic fluid cultures. Repeat amniocentesis revealed 45,X/46,XX mosaicism in all four primary cultures. Mosaicism was confirmed in tissues from the abortus.