[Congenital galactosaemia: an unusual presentation].
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.
Marcoux
M O
MO
Service de réanimation pédiatrique, hôpital des enfants, 330 avenue de Grande-Bretagne, Toulouse, France. marcoux.mo@chu-toulouse.fr
Laporte-Turpin
E
E
Alberge
C
C
Fournie-Gardini
E
E
Castex
M P
MP
Rolland
M
M
Brivet
M
M
Broue
P
P
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