Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita

Pediatr Pulmonol. 2010 Jan;45(1):99-102. doi: 10.1002/ppul.21128.

Abstract

We report the case of a 5-year-old child with dyskeratosis congenita who presented cyanosis and dyspnea at exertion. He had severe hypoxemia with elevated alveolar-arterial oxygen gradient in the setting of liver disease. Technetium-99m-labeled macroaggregated albumin scan showed abnormally high uptake in the brain, confirming hepatopulmonary syndrome.

Publication types

  • Case Reports

MeSH terms

  • Blood Gas Analysis / methods
  • Child, Preschool
  • Cyanosis / etiology*
  • Dyskeratosis Congenita / complications*
  • Dyspnea / etiology
  • Hepatopulmonary Syndrome / complications*
  • Hepatopulmonary Syndrome / diagnosis*
  • Humans
  • Hypoxia / etiology
  • Liver Function Tests / methods
  • Lung / diagnostic imaging
  • Male
  • Oxygen Inhalation Therapy / methods
  • Radionuclide Imaging
  • Radiopharmaceuticals
  • Technetium Tc 99m Aggregated Albumin
  • Tomography, X-Ray Computed

Substances

  • Radiopharmaceuticals
  • Technetium Tc 99m Aggregated Albumin