No abstract

No abstract

Neonatal hemochromatosis is a rare and severe condition of unknown etiology. Recent research suggests that it may have more than one etiology. Suggested theories include an alloimmune process and/or genetic predisposition. We report a case of a male infant who was born premature at 31 weeks of gestation. He was delivered by cesarean section to a 38-year-old G5P3013 woman with no relevant medical or family history and who presented with decreased fetal movement and increased pelvic pressure. Apgar scores at birth were 8 and 9 at 1 and 5 minutes, respectively. The baby developed respiratory distress, severe liver failure, and coagulopathy early in life. Initial blood tests showed normal WBC count, low platelet count, prolonged partial thromboplastin time/prothrombin time (PTT/PT), increased total and direct bilirubin, and low factor VII levels. Genetics, chromosomal analysis, and metabolic evaluation findings were negative. Further laboratory workup revealed markedly elevated ferritin and α-fetoprotein levels. An MRI showed signal abnormalities in liver and pancreas compatible with iron deposition. He was started on intravenous immunoglobulins and exchange transfusion. Liver biopsy was postponed because a chest CT showed pneumonia. As liver failure progressed, hyperammonemia resulted, and the baby needed protein restriction. Brain imaging showed intraventricular, intraparenchymal, and cerebellar hemorrhages with cerebellar hypoplasia. At age 7 weeks, he developed gastrointestinal and pulmonary hemorrhages with progressive bradycardia and desaturation. He eventually died of sequelae of severe coagulopathy secondary to liver failure. Postmortem examination of the liver showed subtotal collapse of parenchyma, diffuse interstitial fibrosis, intrahepatic cholestasis, and marked iron deposition in hepatocytes. Postmortem examination also showed iron depositions in multiple internal organs, including pancreas, myocardium, respiratory secretory glands, thyroid, brain, kidneys, and adrenal glands. No reticuloendothelial iron accumulation was seen. This report describes an unexpected case of neonatal hemochromatosis and emphasizes the importance of early diagnosis and management.