Purpura fulminans in a newborn infant with galactosemia

Eur J Pediatr. 2010 Jul;169(7):903-6. doi: 10.1007/s00431-009-1121-y. Epub 2009 Dec 17.

Abstract

An 11-day-old neonate presented with purpura fulminans and was subsequently diagnosed with galactosemia. Neonatal purpura fulminans occurs predominantly in patients suffering from inherited protein C deficiency or disseminated intravascular coagulation associated with septicemia. Hemostatic changes in patients with liver disease may result in bleeding or, rarely, thrombosis. We suppose that in the present patient, deficiency of protein C, secondary to liver disease, was responsible for the development of purpura fulminans. Treatment consisted of blood and blood products and galactose-free formula. The patient recovered with residual mild psychomotor retardation and the lesions with minimal scarring. In conclusion, galactosemia also should be kept in mind as an uncommon cause of purpura fulminans in newborn infants.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Galactosemias / complications*
  • Galactosemias / genetics
  • Galactosemias / metabolism
  • Humans
  • Infant, Newborn
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Mutation
  • Protein C / metabolism
  • Purpura Fulminans / etiology*

Substances

  • Protein C
  • Methylenetetrahydrofolate Reductase (NADPH2)