Diagnosi di malattia di Rendu-Osler-Weber in bambina con cianosi e teleangectasie cutanee

We report the case of an 9 years old child with cyanosis and clubbing. Her mother was affected by Hereditary Hemorrhagic Telangiectasia (HHT) with muco-cutaneous telangiectasias and epistaxis. Decreased level of oxygen in arterial blood was detected and CT scan showed a pulmonary arteriovenous malformation (AVM). The young patient underwent transcatheter embolization with good results. Diagnosis of HHT was done on the basis of HHT diagnostic criteria. Clinical features, diagnostic approaches and therapeutic strategies during the pediatric age are discussed.