Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Fernandes, Samuel; Moura, Carlos; Rodrigues, Beatriz; Correia, Luís; Cortez-Pinto, Helena; Velosa, José
• Is Part Of: BMC gastroenterology. Volume 16:Issue 1(2016)
• Page Start: 1
• Page End: 4
• Publication Date: 2016-12
• Subjects: Crigler Najjar -- Hyperbilirubinemia -- Acute cholangitis -- Choledocolitiasis -- Uridine diphosphate-glucuronosyl-transferase deficiency; Gastroenterology -- Periodicals; Gastrointestinal Diseases -- Periodicals; Biliary Tract Diseases -- Periodicals; Molecular Biology -- Periodicals; Liver Diseases -- Periodicals; 616.33005
• DOI: 10.1186/s12876-016-0449-9
• Languages: English
• ISSNs: 1471-230X

Abstract

Abstract Background Crigler-Najjar syndrome (CN) is a very rare genetic disorder characterized by an inability to conjugate bilirubin. Contrary to CN type I, patients with CN II exhibit residual capacity to conjugate bilirubin and may present a normal life expectancy. Case presentation We report an unusual late diagnosis of CN type II in an 80-year-old female admitted with severe acute cholangitis. While the patient present typical clinical and radiologic signs of bile duct obstruction and cholangitis, her blood analysis showed severe unconjugated hyperbilirubinemia. Endoscopic retrograde cholangiopancreatography confirmed the diagnosis and allowed therapeutic intervention. The anatomopathologic examination of her gallbladder following cholecystectomy showed signs of chronic cholecystitis. Conclusion The risk of gallstone disease may be increased in patients with CN syndrome. While unusual, we alert to this curious and potential life-threatening presentation.