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 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.
MeSH terms
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Activin Receptors, Type II / genetics
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Child
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Humans
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Lung / diagnostic imaging
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Magnetic Resonance Imaging
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Male
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Positron-Emission Tomography
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Radiopharmaceuticals*
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Technetium Tc 99m Aggregated Albumin*
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Telangiectasia, Hereditary Hemorrhagic / diagnostic imaging*
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Telangiectasia, Hereditary Hemorrhagic / genetics
Substances
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Radiopharmaceuticals
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Technetium Tc 99m Aggregated Albumin
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ACVRL1 protein, human
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Activin Receptors, Type II