Hemochromatosis Presenting with Ascites in a Newborn Infant

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 ۳۵-week-old premature female baby was referred us to investigate the etiology of cholestasis. She had a sibling who died at ۳۴ days of age due to liver failure. Abdominal examination revealed a palpable liver ۴ cm from the costal margin. On laboratory, aspartate transaminase was ۱۱۱ U/L (range ۹-۸۰), alanine transaminase ۶۲ U/L (range ۸-۳۲), total bilirubin ۱۲.۶ mg/dL, and direct bilirubin ۵ mg/dL. Prothrombin time was ۱۸.۴ sec (range ۱۰-۱۴) and INR ۱.۸۶ (range ۰.۸-۱.۲). 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 (۱g/kg, single dose) and antioxidant cocktail, her abdominal distension subsided and liver function tests regressed. The patient has been discharged on the postnatal ۶۷th 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.

Keywords:

Ascites , Acute Liver Failure , Neonatal cholestasis , Neonatal hemochromatosis