Hereditary Hemorrhagic Telangiectasia with Pulmonary and Splenic Arteriovenous Malformation
2012
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is a rare autosomal dominant vascular disorder involving arteriovenous malformation (AVM) due to angiodysplasia. HHT is characterized by mucocutaneous hemorrhagic telangiectasia and AVM of various different organs. The mutated genes in HHT encode proteins that mediate signaling by the transforming growth factorsuperfamily, leading to migration and proliferation of endothelial cells to β finally result in AVMs of various organs. Amongst various affected organs, pulmonary AVM is the most common. This 11-year-old female patient with a past and familial history of frequent epistaxis visited the hospital for abdominal pain and vomiting which developed on the same day. Nodular opacity was found in chest X-ray. Subsequently, AVMs in the lungs and the spleen were recognized in chest computed tomography along with detection of ENG gene mutation. Here we report a case of hereditary hemorrhagic telangiectasia diagnosed by incidental chest X-ray findings followed by genetic and radiologic studies. [Pediatr Allergy Respir Dis(Korea) 2012;22:438-443 ]
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
21
References
0
Citations
NaN
KQI