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  • Title: [Congenital galactosaemia: an unusual presentation].
    Author: Marcoux MO, Laporte-Turpin E, Alberge C, Fournie-Gardini E, Castex MP, Rolland M, Brivet M, Broue P.
    Journal: Arch Pediatr; 2005 Feb; 12(2):160-2. PubMed ID: 15694540.
    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.
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