Hemochromatosis Presenting with Ascites in a Newborn Infant

Document Type : Case Report


1 Department of Pediatrics-Neonatology, Faculty of Medicine, Firat University, Elazig, Turkey

2 Department of Radiology, Faculty of Medicine, Firat University, Elazig, Turkey

3 Department of Pathology, Faculty of Medicine, Firat University, Elazig, Turkey


Background: Although the incidence of neonatal hemochromatosis (NH) is not known exactly, it is one of the causes of acute liver failure in the newborns. NH is a rare iron metabolism disease characterized by excessive iron accumulation in the tissues that onsets in-utero. Here, a patient diagnosed with NH who developed ascites while investigating the etiology of cholestasis has been presented.
Case report: A 35-week-old premature female baby was referred us to investigate the etiology of cholestasis. She had a sibling who died at 34 days of age due to liver failure. Abdominal examination revealed a palpable liver 4 cm from the costal margin. On laboratory, aspartate transaminase was 111 U/L (range 9-80), alanine transaminase 62 U/L (range 8-32), total bilirubin 12.6 mg/dL, and direct bilirubin 5 mg/dL. Prothrombin time was 18.4 sec (range 10-14) and INR 1.86 (range 0.8-1.2). Magnetic resonance imaging revealed a diffuse reduction in liver density due to iron accumulation. Focal iron accumulation consistent with NH was observed in hepatocytes in liver biopsy. In the clinical follow-up, the patient developed abdominal distension. Abdominal ultrasonography showed excessive fluid accumulation in the abdominal cavity. Following intravenous immunoglobulin (1g/kg, single dose) and antioxidant cocktail, her abdominal distension subsided and liver function tests regressed. The patient has been discharged on the postnatal 67th day with planned liver transplantation.
Conclusion: Neonatal hemochromatosis should definitely be kept in mind in newborns with hepatic failure. As seen in this case, NH should also be considered in the differential diagnosis of ascites in newborn infants.


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