Neonatal haemochromatosis: a rare cause of neonatal death

Eur J Obstet Gynecol Reprod Biol. 2004 Oct 15;116(2):233-4. doi: 10.1016/j.ejogrb.2003.11.030.

Abstract

Neonatal haemochromatosis is a very rare disorder with an unclear aetiology and an extremely poor outcome. A 24 year-old patient was delivered at 32 week gestation. The new-born presented a liver failure syndrome and died shortly after birth. The diagnosis of haemochromatosis was based on iron deposition revealed by the autopsy. In families at risk, ultrasound foetal follow up should be proposed and the detection of an anomaly suggestive of NH recurrence justifies a MRI in early third trimester. Liver transplantation is the treatment of choice for advanced disease.

Publication types

  • Case Reports

MeSH terms

  • Autopsy
  • Female
  • Hemochromatosis / complications*
  • Hemochromatosis / diagnosis*
  • Humans
  • Infant, Newborn
  • Liver / chemistry
  • Liver / pathology*
  • Liver Failure / etiology*
  • Liver Failure / pathology