Neonatal hemochromatosis and patent ductus venosus: clinical course and diagnostic pitfalls

Pediatr Radiol. 2009 Aug;39(8):823-7. doi: 10.1007/s00247-009-1294-6. Epub 2009 May 21.


Background: Neonatal hemochromatosis is a rare metabolic disorder characterized by excessive iron deposition within the liver leading to hepatic failure and portal hypertension.

Objective: We describe the clinical course and imaging findings in three infants with neonatal hemochromatosis associated with patent ductus venosus. We paid special attention to the diagnostic challenges encountered in these patients in order to emphasize some of the potential diagnostic pitfalls.

Materials and methods: We conducted a comprehensive search of our radiology database of the last 10 years (1999-2008) for the keywords "neonatal hemochromatosis." Medical records and imaging studies of various modalities were reviewed.

Results: Three neonates were found to have neonatal hemochromatosis; all of them were associated with patent ductus venosus. Two of these patients were referred to our tertiary center for embolization of an inaccurately diagnosed hepatic vascular malformation. Two patients underwent successful liver transplantation and one died shortly after referral.

Conclusion: The awareness and inclusion of neonatal hemochromatosis in the differential diagnosis of newborns with liver failure and patent ductus venosus has critical treatment implications.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Diagnostic Imaging / methods*
  • Female
  • Hemochromatosis / diagnosis*
  • Humans
  • Infant, Newborn
  • Male
  • Portal Vein / abnormalities*
  • Portal Vein / diagnostic imaging*
  • Radiography