Small fiber neuropathy in pediatric female heterozygotes of Fabry disease: a twin case report
Small fiber neuropathy is an early and clinically relevant manifestation of Fabry disease in pediatric heterozygotes. Early recognition and intervention, including enzyme replacement therapy (ERT), are essential to mitigating disease progression and improving clinical outcomes. These cases underscore the utility of QST in confirming small fiber neuropathy and highlight its potential role in the early diagnosis and monitoring of Fabry-related neuropathy in pediatric patients.
Authors
- Cristian Correa‐Arrieta (ORCID: https://orcid.org/0000-0002-8805-5051)
- Edicson Ruiz Ospina (ORCID: https://orcid.org/0000-0002-3664-4903)
- Fernando Ortiz‐Corredor (ORCID: https://orcid.org/0000-0002-7427-3576)
- Sandra Milena Castellar-Leones (ORCID: https://orcid.org/0000-0002-4559-2965)
- Juan Esteban González-Camargo (ORCID: https://orcid.org/0000-0003-2560-6757)
Institutions
- Biogen (United States) (US)
- Universidad Nacional de Colombia (CO)
- Centro de Ingeniería Genética y Biotecnología (CU)
- ECSI Fibrotools (United States) (US)
- CECOLFES (CO)
- Hospital Universitario Nacional de Colombia (CO)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-12-12
- DOI
- https://doi.org/10.1186/s12887-025-06437-3
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00