99mTc-MAA Pulmonary Scintigraphy in Hereditary Hemorrhagic Telangiectasia

Clin Nucl Med. 2016 Aug;41(8):671-3. doi: 10.1097/RLU.0000000000001249.

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.

Publication types

  • Case Reports

MeSH terms

  • Activin Receptors, Type II / genetics
  • Child
  • Humans
  • Lung / diagnostic imaging
  • Magnetic Resonance Imaging
  • Male
  • Positron-Emission Tomography
  • Radiopharmaceuticals*
  • Technetium Tc 99m Aggregated Albumin*
  • Telangiectasia, Hereditary Hemorrhagic / diagnostic imaging*
  • Telangiectasia, Hereditary Hemorrhagic / genetics

Substances

  • Radiopharmaceuticals
  • Technetium Tc 99m Aggregated Albumin
  • ACVRL1 protein, human
  • Activin Receptors, Type II