Rare Cause of Hypoxemia in a Toddler: New Diagnosis of Hereditary Hemorrhagic Telangiectasia

Saxena et al discuss the case study of a three-year-old female with hypoxemia. She presented with one week of emesis, two months of headaches, and one episode of dusky fingers that occurred one month prior. On admission, she had perioral cyanosis, digital clubbing, polycythemia (Hb 18.9 g/dl and hem...

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Bibliographic Details
Published in:American journal of respiratory and critical care medicine 2023-06, Vol.207 (11), p.1533-1535
Main Authors: Saxena, Shikha, Doyle, Patrick W, Baron, Christopher M, Doyle, Thomas P, Sokolow, Andrew G
Format: Article
Language:English
Subjects:
Cardiology
Case reports
Cyanosis
Genetic disorders
Medical diagnosis
Medical imaging
Oxygen saturation
Pediatrics
Ultrasonic imaging
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Summary:Saxena et al discuss the case study of a three-year-old female with hypoxemia. She presented with one week of emesis, two months of headaches, and one episode of dusky fingers that occurred one month prior. On admission, she had perioral cyanosis, digital clubbing, polycythemia (Hb 18.9 g/dl and hematocrit 54%), and rhinovirus/enterovirus on viral PCR Supplemental oxygen did not significantly alleviate the hypoxemia. Echocardiography with a bubble study demonstrated delayed contrast in the left chambers, suggestive of pulmonary arteriovenous malformations.
ISSN:1073-449X
1535-4970
DOI:10.1164/rccm.202209-1703IM