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Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations in children
Thimmesch M. , El Abd K. , Brisbois D. , Khamis J. , Lewin M. , Philippet P.
Rev Med Liege 2016, 71(12),537-540Abstract : Hereditary hemorrhagic telangiectasia is a constitutional vascular dysplasia characterized by chronic epistaxis, mucocutaneous and visceral telangiectasias and arteriovenous malformations. Apart from family screenings, the disease is rarely diagnosed during the pediatric age given the late advent of typical clinical symptoms. Nevertheless, arteriovenous malformations are sometimes already present at a young age with significant morbidity risk. Therefore, it is important to establish an early diagnosis. We describe two pediatric cases of hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations with divergent clinical presentation.
