Neonatal haemochromatosis: report of a patient with favourable outcome

Eur J Pediatr. 1997 Apr;156(4):296-8. doi: 10.1007/s004310050604.


A male newborn was referred on the 2nd day of life because of suspected sepsis. The child became comatose and ventilator dependent owing to progressive hepatic failure with hyperammonaemia. Diagnostic studies revealed an highly elevated ferritin level. The family history was remarkable in that an aunt and a great aunt on his mother's side have idiopathic haemochromatosis. Open liver biopsy showed advanced cirrhosis with cholestasis and excessive hepatocellular siderosis. Concentrations of iron in liver tissue were highly elevated. The child's status improved unexpectedly, and excretory and synthetic liver function gradually returned to normal.

Conclusion: Neonatal haemochromatosis is not an irreversible disease of iron metabolism but rather a distinct outcome of fetal liver disease which predisposes by an yet unknown mechanism to a derangement of fetoplacental iron handling. If patients survive the initial phase of liver failure, prognosis is largely dependent upon liver cirrhosis and its sequels. The iron overload in this type of haemochromatosis is reversible and not progressive.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Diet Therapy
  • Ferritins / blood
  • Hemochromatosis / complications
  • Hemochromatosis / congenital*
  • Hemochromatosis / diagnosis
  • Hemochromatosis / therapy
  • Humans
  • Infant, Newborn
  • Liver / pathology
  • Male
  • Sepsis / diagnosis


  • Ferritins