Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita.
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.
Renoux
M C
MC
Pediatric Cardiology and Pulmonology Unit, Hospital Arnaud de Villeneuve, Montpellier, France. mc-renoux@chu-montpellier.fr
Mazars
N
N
Tichit
R
R
Counil
F
F
D001784:Blood Gas Analysis / Q000379:methods; D002675:Child, Preschool; D003490:Cyanosis / Q000209:etiology*; D019871:Dyskeratosis Congenita / Q000150:complications*; D004417:Dyspnea / Q000209:etiology; D020065:Hepatopulmonary Syndrome / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D000860:Hypoxia / Q000209:etiology; D008111:Liver Function Tests / Q000379:methods; D008168:Lung / Q000000981:diagnostic imaging; D008297:Male; D010102:Oxygen Inhalation Therapy / Q000379:methods; D011877:Radionuclide Imaging; D019275:Radiopharmaceuticals; D013668:Technetium Tc 99m Aggregated Albumin; D014057:Tomography, X-Ray Computed
D019275:Radiopharmaceuticals; D013668:Technetium Tc 99m Aggregated Albumin