99mTc-MAA Pulmonary Scintigraphy in Hereditary Hemorrhagic Telangiectasia. (August 2016)

• Record Type: Journal Article
• Authors: Yang, Fang; Yuan, Leilei; Ma, Daqing; Yang, Jigang
• Is Part Of: Clinical nuclear medicine. Volume 41:Number 8(2016)
• Publication Date: 2016-08
• Subjects: MAA -- hereditary hemorrhagic telangiectasia -- pulmonary scintigraphy; Nuclear medicine -- Periodicals; Radioisotope scanning -- Periodicals; Nuclear Medicine -- Periodicals; 616.07575
• DOI: 10.1097/RLU.0000000000001249
• Languages: English
• ISSNs: 0363-9762

Abstract

Abstract : Abstract: A 5-year-old boy was admitted due to shortness of breath. Blood gas analysis showed hypoxemia. However, thoracic and abdominal CT, brain MRI, and MR angiography were all normal. A 99m Tc-MAA pulmonary scintigraphy revealed right-to-left shunting of the blood. Further genetic analysis showed the mutations in the activin receptor-like kinase 1 gene, and a diagnosis of hereditary hemorrhagic telangiectasia was made.