Neonatal hemochromatosis (NH) has been defined as neonatal liver disorder accompanied by extrahepatic siderosis, and gestational alloimmune liver disease (GALD) is the main cause of NH. We report an atypical case of NH that may have gone underdiagnosed. A male infant was born at term after an uneventful antenatal period. At 7 h of life, he was noted to be tachypneic. Chest X-ray was normal and capillary blood gas analysis showed severe lactic acidosis. An extended blood test showed elevated levels of tyrosine and methionine that, after excluding an inborn error of metabolism, led to the diagnosis of acute liver failure. Hyperferritinemia and elevated transferrin saturation were suggestive of NH. Extrahepatic siderosis on MRI confirmed the diagnosis of NH, so even though the infant was in good general condition, a dose of intravenous immunoglobulin was administered and double volume exchange transfusion was performed. Treatment of a suspected case of GALD and prevention in subsequent gestations is imperative.
Keywords: Exchange transfusion; gestational alloimmune disease; intravenous immunoglobulin; methionine; neonatal hemochromatosis; tyrosine.