European Journal of Pediatrics

, Volume 156, Issue 4, pp 296–298

Neonatal haemochromatosis: report of a patient with favourable outcome

  • J. Müller-Berghaus
  • A. S. Knisely
  • R. Zaum
  • A. Vierzig
  • E. Kirn
  • D. V. Michalk
  • B. Roth
METABOLIC DISEASES

Abstract

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.

Key words Neonatal haemochromatosis Ferritin 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • J. Müller-Berghaus
    • 1
  • A. S. Knisely
    • 2
  • R. Zaum
    • 1
  • A. Vierzig
    • 1
  • E. Kirn
    • 3
  • D. V. Michalk
    • 1
  • B. Roth
    • 1
  1. 1.Universitätskinderklinik Köln, Joseph-Stelzmann-Strasse 9, D-50924 Köln, Germany Fax: 0049–221–478–4635DE
  2. 2.Children's Hospital of Pittsburgh, U.S.A.US
  3. 3.Institute for Pathology, University of Cologne, GermanyDE

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