Abstract / Summary
Neonatal hemochromatosis (NH) is a rare cause of neonatal acute liver failure.Hepatic injury disrupts iron homeostasis, including hepatic hepcidin regulation, resulting in systemic iron overload and iron deposition in extrahepatic tissues.However, diagnosing it remains challenging because clinical manifestations are nonspecific and histological confirmation may be difficult to obtain.Herein, we report a fatal case of NH in a term neonate who developed fulminant multiorgan failure shortly after birth, followed by a prolonged critical course.The patient developed severe metabolic acidosis, coagulopathy, anuric renal failure requiring continuous renal replacement therapy, and persistent cardiovascular instability despite intensive treatment.Magnetic resonance imaging showed characteristic extrahepatic siderosis with sparing of the spleen.Although salivary gland biopsy findings were negative, the autopsy confirmed widespread iron deposition consistent with NH.Extensive investigations excluded metabolic, mitochondrial, and lysosomal disorders, including Niemann-Pick disease type C.This case highlights the diagnostic difficulty of NH and the importance of early recognition and comprehensive evaluation in neonates with acute liver failure.