ArticleOxford medical case reports2026
Pediatric Fabry disease revealed by early neuropathic symptoms: a case report.
Article in Oxford medical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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
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