Hemochromatosis Presenting with Ascites in a Newborn Infant

Document Type : Case Report

Authors

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

Abstract

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.
 
 

Keywords

References

  1. Whitington PF. Neonatal hemochromatosis: a congenital alloimmune hepatitis. Semin Liver Dis. 2007; 27(3): 243-50.
  2. Knisely AS, Mieli-Vergani G, Whitington PF. Neonatal hemochromatosis. Gastroenterol Clin North Am. 2003; 32(3): 877-89, vi-vii.
  3. Saenz MS, Van Hove J, Scharer G. Neonatal liver failure: a genetic and metabolic perspective. Curr Opin Pediatr. 2010; 22(2): 241-5.
  4. Pearson L, Bissinger R, Romero KR. Neonatal hemochromatosis: a case report. Adv Neonatal Care. 2009; 9(2): 72-6.
  5. Murray KF, Kowdley KV. Neonatal hemochromatosis. Pediatrics. 2001; 108(4): 960-4.
  6. Hantash EM, Al Zahrani A, Abdoun M, et al. Neonatal hemochromatosis: treatment with exchange transfusion and intravenous immunoglobulin. Dr Sulaiman Al Habib Medical Journal. 2021 (In Press): DOI: https://doi.org/10.2991/dsahmj.k.210715.001.
  7. Pan X, Kelly S, Melin-Aldana H, Malladi P, Whitington PF. Novel mechanism of fetal hepatocyte injury in congenital alloimmune hepatitis involves the terminal complement cascade. Hepatology. 2010; 51(6): 2061-8.
  8. Whitington PF, Hibbard JU. High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis. Lancet. 2004; 364(9446): 1690-8.
  9. Whitington PF. Fetal and infantile hemochromatosis. Hepatology. 2006; 43(4): 654-60.
  10. Chan KC, Edelman M, Fantasia JE. Labial salivary gland involvement in neonatal hemochromatosis: a report of 2 cases and review of literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008; 106(1):e27-30.
  11. Udell IW, Barshes NR, Voloyiannis T, Lee TC, Karpen SJ, Carter BA, et al. Neonatal hemochromatosis: radiographical and histological signs. Liver Transpl. 2005; 11(8): 998-1000.
  12. Semelka RC, Mitchell DG. Liver and biliary system. In: Edelman RR, Hesselink JR, Zlatkin MB, eds. Clinical Magnetic Resonance Imaging. 2nd ed. Philadelphia: W.B. Saunders, 1996; 1490-2.
  13. Feldman AG, Whitington PF. Neonatal hemochromatosis. J Clin Exp Hepatol. 2013; 3(4): 313-20.
  14. Sigurdsson L, Reyes J, Kocoshis SA, Hansen TW, Rosh J, Knisely AS. Neonatal hemochromatosis: outcomes of pharmacologic and surgical therapies. J Pediatr Gastroenterol Nutr. 1998; 26(1): 85-9.
  15. Grabhorn E, Richter A, Burdelski M, Rogiers X, Ganschow R. Neonatal hemochromatosis: long-term experience with favorable outcome. Pediatrics. 2006; 118(5): 2060-5.
  16. Inui A, Fujisawa T, Kubo T, Sogo T, Komatsu H, Kagata Y. A case of neonatal hemochromatosis-like liver failure with spontaneous remission. J Pediatr Gastroenterol Nutr. 2005; 40(3): 374-7.
Iranian Journal of Neonatology
Volume 13, Issue 4
October 2022
Pages 39-43

Files

Share

How to cite

Statistics