Delayed diagnosis of homocystinuria presenting with coronavirus disease 2019 in a 17-year-old boy.

Rev Soc Bras Med Trop

Basaksehir Cam and Sakura City Hospital, Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul, Turkey.

Published: September 2022

Homocystinuria is a treatable autosomal recessive inherited disorder. This condition may cause life-threatening complications such as thromboembolic events. Coronavirus disease 2019 (COVID-19) is associated with an increased risk of venous thromboembolic events. Here, we report a case of late diagnosis of homocystinuria presenting with deep venous thrombosis and COVID-19. This study highlights a sustained high index of suspicion for homocystinuria to prevent severe thromboembolic complications.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9549948PMC
http://dx.doi.org/10.1590/0037-8682-0143-2022DOI Listing

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