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Ben Ameur, S.; Chabchoub, I.; Telmoudi, J.; Belfitouri, Y.; Rebah, O.; Lacaille, F.; Aloulou, H.; Mehrzi, A.; Hachicha, M.
Archives de pédiatrie : organe officiel de la Société française de pédiatrie, December 2016, 2016-Dec, 2016-12-00, 20161201, Volume: 23, Issue: 12Journal Article
Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. Drug therapy in addition to surgical intervention may be effective in many patients in reducing serum bile acids, cholesterol levels, pruritus, and skin xanthomas. In this report, we describe a child with Alagille syndrome who presented with severe pruritus and xanthomas as a consequence of severe hypercholesterolemia and discuss the treatment modalities. Le syndrome d’Alagille, ou paucité ductulaire syndromique, est une affection multisystémique héréditaire, de transmission autosomique dominante. Il est caractérisé par l’association d’une cholestase chronique à une atteinte cardiaque, oculaire, squelettique et un faciès caractéristique. Il est souvent associé à prurit et à la formation de xanthomes secondaires à l’hypercholestérolémie. Nous discutons à travers une observation les modalités thérapeutiques chez ces patients souffrant souvent de prurit invalidant.
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