All issues > Volume 50(10); 2007

Case Report

Korean J Pediatr. 2007;50(10):1018-1023. Published online October 15, 2007.

A case of hereditary hemorrhagic telangiectasia

Young Seung YS Lee¹, Seonguk SG Kim¹, Eun Kyeong EK Kang¹, June Dong JD Park¹

¹Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

Correspondence June Dong JD Park ,Email: jdparkmd@snu.ac.kr

Abstract

Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary and cerebral AVMs and a familial occurrence.

Keywords :Telangiectasia, Hereditary Hemorrhagic, Recurrence, Epistaxis, Arteriovenous Malformations, Inheritance Patterns