[Congenital galactosaemia: an unusual presentation]

Arch Pediatr. 2005 Feb;12(2):160-2. doi: 10.1016/j.arcped.2004.10.019.
[Article in French]

Abstract

Congenital galactosaemia reveals usually in the second and third weeks of life with a severe liver dysfunction. We report on a case of congenital galactosaemia with, on the one hand, an early onset liver failure, without any free interval, and on the other hand, an hemophagocytic syndrome as a severe secondary outbreak with pulmonary haemorrhage. Appropriate diet led to normalisation of liver function. Hemophagocytosis, probably linked to an associated Klebsiella Pneumoniae sepsis, had a favourable outcome after antibiotic and corticosteroid therapy.

Publication types

  • Case Reports

MeSH terms

  • Galactosemias / pathology*
  • Galactosemias / therapy
  • Hemorrhage / etiology*
  • Humans
  • Infant, Newborn
  • Klebsiella Infections / complications
  • Klebsiella pneumoniae
  • Liver Failure / diet therapy
  • Liver Failure / etiology*
  • Lung Diseases / etiology*
  • Male
  • Phagocytosis
  • Sepsis / complications
  • Treatment Outcome