Pediatr Allergy Respir Dis.  2012 Dec;22(4):438-443.

Hereditary Hemorrhagic Telangiectasia with Pulmonary and Splenic Arteriovenous Malformation

• Kim MH
• Namgoong M
• Kim YJ
• Jung SH
• Uh Y
• Lee HY

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-beta 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.

Keyword

Telangiectasia; Hereditary hemorrhagic; Arteriovenous malformations; Lung; Spleen

MeSH Terms

Abdominal Pain
Angiodysplasia
Arteriovenous Malformations
Endothelial Cells
Epistaxis
Female
Humans
Lung
Proteins
Spleen
Telangiectasia, Hereditary Hemorrhagic
Telangiectasis
Thorax
Vomiting
Proteins

Figure

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  Fig. 1 Chest radiograph showing both middle lobe nodular opacity.

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  Fig. 2 Chest computed tomography scan showing multiple enhancing nodules in both mid lungs.

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  Fig. 3 Enhancing mass with multiple punctuated calcifications is seen in spleen.

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  Fig. 4 DNA 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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