Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease

• Published in: Pediatrics (Evanston) Vol. 129; no. 4; p. e1076
• Main Authors: Debray, Francois-Guillaume, de Halleux, Virginie, Guidi, Ornella, Detrembleur, Nancy, Gaillez, Stéphanie, Rausin, Léon, Goyens, Philippe, Pan, Xiaomin, Whitington, Peter F
• Format: Journal Article
• Language: English
• Published: United States 01.04.2012
• Subjects: Autoimmune Diseases - complications; Autoimmune Diseases - congenital; Autoimmune Diseases - diagnosis; Biopsy; Diagnosis, Differential; Female; Follow-Up Studies; Hepatomegaly - diagnostic imaging; Hepatomegaly - embryology; Hepatomegaly - etiology; Humans; Iron - metabolism; Liver - metabolism; Liver - pathology; Liver Cirrhosis - complications; Liver Cirrhosis - diagnosis; Liver Diseases - complications; Liver Diseases - congenital; Liver Diseases - immunology; Pregnancy; Pregnancy Complications; Ultrasonography, Prenatal
• ISSN: 1098-4275
• DOI: 10.1542/peds.2011-0568

Gestational alloimmune liver disease has emerged as the major cause of antenatal liver injury and failure. It usually manifests as neonatal liver failure with hepatic and extrahepatic iron overload, a clinical presentation called neonatal hemochromatosis. We report on a newborn in whom fetal hepatomegaly was detected during pregnancy and who presented at birth with liver cirrhosis and mild liver dysfunction. Liver biopsy showed the absence of iron overload but strong immunostaining of hepatocytes for the C5b-9 complex, the terminal complement cascade neoantigen occurring specifically during complement activation by the immunoglobulin G-mediated classic pathway, which established the alloimmune nature of the hepatocyte injury. The infant survived with no specific therapy, and follow-up until 36 months showed progressive normalization of all liver parameters. This case report expands the recognized clinical spectrum of congenital alloimmune liver disease to include neonatal liver disease and cirrhosis, even in the absence of siderosis. Such a diagnosis is of utmost importance regarding the necessity for immunotherapy in further pregnancies to avoid recurrence of alloimmune injury.