title: [Congenital galactosaemia: an unusual presentation].
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.
authors.affiliation: Service de réanimation pédiatrique, hôpital des enfants, 330 avenue de Grande-Bretagne, Toulouse, France. marcoux.mo@chu-toulouse.fr
authors.forename: M O
authors.initials: MO
authors.lastname: Marcoux
authors.forename: E
authors.initials: E
authors.lastname: Laporte-Turpin
authors.forename: C
authors.initials: C
authors.lastname: Alberge
authors.forename: E
authors.initials: E
authors.lastname: Fournie-Gardini
authors.forename: M P
authors.initials: MP
authors.lastname: Castex
authors.forename: M
authors.initials: M
authors.lastname: Rolland
authors.forename: M
authors.initials: M
authors.lastname: Brivet
authors.forename: P
authors.initials: P
authors.lastname: Broue
mesh_terms: D005693:Galactosemias / Q000473:pathology* / Q000628:therapy; D006470:Hemorrhage / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D007710:Klebsiella Infections / Q000150:complications; D007711:Klebsiella pneumoniae; D017093:Liver Failure / Q000178:diet therapy / Q000209:etiology*; D008171:Lung Diseases / Q000209:etiology*; D008297:Male; D010587:Phagocytosis; D018805:Sepsis / Q000150:complications; D016896:Treatment Outcome