Neonatal hemochromatosis − a case report

Neonatal hemochromatosis (NH) is a rare disease characterized by diffuse hyperpigmentation of skin and mucosae along with jaundice, seizures, and anasarca. Most cases of NH are due to gestational alloimmune liver disease (GALD). We report a case of an 18-day-old neonate who presented with diffuse hyperpigmentation of skin, seizures, and liver dysfunction. Diagnosis of neonatal hemochromatosis was made based on iron deposits found in minor salivary glands on histopathology. The patient was treated with exchange transfusion and IVIG; however, the neonate succumbed to the illness. This case highlights the challenges of NH diagnosis and the importance of considering NH in neonates with diffuse hyperpigmentation and liver dysfunction. Targeted biopsies like minor-salivary gland biopsy with Prussian blue stain can be crucial for definitive diagnosis and potentially improved outcomes.