Abstract / Summary
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, resulting in progressive glycosphingolipid accumulation and multisystem morbidity. Early pediatric manifestations are frequently overlooked, delaying treatment and increasing the risk of irreversible organ damage. We describe a 14-year-old boy presenting with acroparesthesia, recurrent abdominal pain, exercise intolerance, and anhidrosis since early childhood. Clinical evaluation revealed peripheral neuropathy and short stature. Biochemical testing demonstrated nearly absent α-galactosidase A activity (0.1 μmol/L/h; N > 2.8) and markedly elevated lyso-GL-3 (135.6 ng/mL; N < 3.5). Molecular analysis identified a hemizygous pathogenic variant, c.658C>T (p.Arg220*), confirming classic FD. Comprehensive baseline assessment showed no renal, cardiac, ophthalmologic, or cerebrovascular involvement. Familial screening revealed the same mutation in his mother and a symptomatic maternal uncle. Enzyme replacement therapy (ERT) with agalsidase beta was initiated. Early recognition in childhood is critical to optimize outcomes and modify disease progression.