Novembre 2006 - Volume XXV - numero 9

Medico e Bambino


Pagine elettroniche ; Caso Contributivo

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

P. Quarello, E. Parodi, D. Renga, L. Farinasso, P. Saracco

Divisione di Ematologia, Dipartimento di Scienze Pediatriche e dell’Adolescenza, Università di Torino, Ospedale Infantile Regina Margherita.

Indirizzo per corrispondenza: paola.quarello@unito.it

DIAGNOSIS OF RENDU-OSLER-WEBER SYNDROME IN A CHILD WITH CYANOSIS AND MUCO-CUTANEOUS TELANGIECTASIAS

Key words: Hereditary Hemorrhagic Telangiectasia, Cyanosis, Arteriovenous malformations

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.

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P. Quarello, E. Parodi, D. Renga, L. Farinasso, P. Saracco
Diagnosi di malattia di Rendu-Osler-Weber in bambina con cianosi e teleangectasie cutanee
Medico e Bambino 2006;25(9):601-602 https://www.medicoebambino.com/?id=0609_601.pdf


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