Prenatal diagnosis of neonatal hemochromatosis: it is possible?

• Main Authors: Helena Isabel Lopes, Ana Luísa Montes, Mariana Veiga Novais, Otília Brandão, Francisco Valente
• Format: Article
• Language: English
• Published: Centro Hospitalar do Porto 2015-06-01
• Series: Nascer e Crescer
• Subjects: diagnóstico prénatal; ecografia fetal; hemocromatose neonatal
• Online Access: http://revistas.rcaap.pt/nascercrescer/article/view/8566

Introduction: Neonatal Hemochromatosis is a rare liver disease of intrauterine onset, defined by neonatal liver failure associated with extrahepatic siderosis. Gestational alloimmune liver disease has been established as the cause of fetal liver injury. At present, there is no effective approach to prenatal diagnosis. Case Report: A 23-year-old pregnant woman presented at 32 weeks of gestation with oligohydramnios and hyperechogenic liver focus on ultrasound. The premature newborn developed multisystem organ failure and died at the second day of life despite aggressive support care. The autopsy allowed the diagnosis of Neonatal Hemochromatosis. Conclusion: The ultrasound identification of hyperechogenic nodular focus on fetal liver may be suggestive of Neonatal Hemochromatosis. Further investigations are needed to identify the specific alloimmune complex in maternal blood. Establishment of the diagnosis in an affected fetus or newborn may have a major impact for the prognosis of disease and for the outcome of future pregnancies.