Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery.

ABSTRACT: Gaucher type 3C disease with porcelain aorta can cause severe hemodynamic impairment. We report the first case, to our knowledge, of a 13-year-old Mexican girl with a GBA1 homozygous c.1342G>C [p.Asp448His] (commonly known as p.D409H) pathogenic variant who underwent extensive aortic replacement. She has been on enzyme replacement therapy and is alive 5 years after surgery. (Level of Difficulty: Intermediate.).

SUBMITTER: Silva-Estrada J 

PROVIDER: S-EPMC9700068 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature