目的　探讨新生儿特发性含铁血黄素沉着症的诊断和治疗。方法　回顾分析1例新生儿特发性含铁血黄素 沉着症患儿的临床资料，并复习相关文献。结果　女性患儿，胎儿期及出生时检查未见明显异常；生后4小时起出现皮肤 黄染，并进行性加重，经换血及白蛋白输注等治疗未见改善。肝脏病理提示肝细胞弥漫性气球样变伴多核巨肝细胞转化， 肝细胞内胆汁淤积伴毛细胆管扩张，胆栓形成，可见散在髓外造血灶，肝细胞内大量棕黄色颗粒沉着；普鲁士蓝染色显示 为铁沉着。确诊为特发性含铁血黄素沉着症，随后加用N-乙酰半胱氨酸治疗，病情渐改善。结论　新生儿含铁血黄素沉着 症是新生儿期表现为伴有肝外含铁血黄素沉积的重度肝病，肝脏病理检查见肝细胞内铁沉积为确诊金标准。

　Objective　To explore the diagnosis and treatment of neonatal hemochromatosis (NH). Method　The clinical data of NH in a child were retrospectively analyzed and the related literature was reviewed. Result　A female infant showed no obvious abnormalities in fetal and birth examinations. Skin yellowing occurred 8 hours after birth and aggravated progressively, and no improvement was observed after transfusion and albumin infusion. Liver pathology showed diffuse ballooning of hepatocytes with multinucleated giant hepatocyte transformation, intrahepatic cholestasis with formation of bile duct dilatation and thrombosis, scattered extramedullary hematopoietic foci, and a large number of brownish yellow particles deposited in hepatocytes. Prussian blue staining showed iron deposition, and NH was diagnosed. Subsequently, the patient was treated with N-acetylcysteine and the disease was gradually improved. Conclusion　NH is a severe liver disease with extrahepatic hemosiderin deposition in neonatal period. Iron deposition in hepatocytes by liver pathological examination is the gold standard for diagnosis.