Clin Case Rep. 2026 Aug 18;14(8):e73353. doi: 10.1002/ccr3.73353. eCollection 2026 Aug.
ABSTRACT
We described a 12-year-old boy with classic Fabry disease who was diagnosed through newborn screening. At age 6.2, he started agalsidase alfa based on evidence of subclinical organ involvement. At age 7.2, acroparesthesia subsequently developed. At age 10.9, after switching to agalsidase beta due to an insufficient clinical and biochemical response, his acroparesthesia resolved and plasma Lyso-Gb3 decreased. This report broadens the clinical understanding of children with Fabry disease.
PMID:42620782 | PMC:PMC13486963 | DOI:10.1002/ccr3.73353