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Abstract
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 factor-β superfamily, leading to migration and proliferation of endothelial cells to 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.
Figures and Tables
 | Fig. 4DNA analysis of ENG. Y in Black box means base C and T. CAG is a genetic codon for Gln (56th amino acid of ENG) and TAG is nonsense codon.
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 | Fig. 5(A) A transverse section of the lung tissue in left lower lobe by wedge resection: relatively ill-defined hemorrhagic nodule, which consists of dilated tortuous blood vessels with thin walls, filled with entrapped dark brown blood clot. (B) Microscopic findings of the lung tissue: it shows parts of the wall of the dilated blood vessels with focal thickening due to fibroblast proliferation (H&E, ×100).
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References
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