Neonatal Hemochromatosis: A Case Report
Abstract
Neonatal hemochromatosis (NH) is a rare disease causing severe liver failure in neonate. Gestational alloimmune liver disease was recently proposed as anetiology. We present a unique case of a male infant with severe cholestasis soon after birth. Preliminary diagnosis of NH was made by detecting high serum ferritin level along with demonstrating iron deposition in hepatic tissues by magnetic resonance imaging (MRI). Despite being treated with blood exchange transfusions, antioxidant and chelating agents when NH was diagnosed around 2 months of age, he continued to have increasing bilirubin level and worsening coagulopathy. Eventually, he died from severe infection and liver failure at 5 months of age. His autopsy showed siderosis of liver and pancreas, which supported the diagnosis of NH. The specific treatments for NH should be initiated as early as possible once the diagnosis has been made, so that improved clinical outcome may be expected.
Keywords: Gestational alloimmune liver disease, siderosis, cirrhosis
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