Fabry disease: a case report

Authors

  • Afroja Alam Associate Professor, Department of Palliative Medicine, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh
  • Nadia Sharleen FCPS Trainee, Department of Dermatology and Venereology, BSMMU, Dhaka, Bangladesh
  • Nusrat Jahan Prianka Phase B Resident, Department of Cardiology, BSMMU, Dhaka, Bangladesh
  • Muhammad Raquib Rahman Junior Consultant, Department of Cornea and Anterior Segment, Ispahani Islamia Eye Institute and Hospital, Dhaka, Bangladesh
  • Mahbuba Yesmin Assistant Professor, Department of Internal Medicine, Enam Medical College and Hospital, Savar, Bangladesh.
  • ATM Asaduzzaman Associate Professor, Department of Dermatology and Venereology, BSMMU, Dhaka, Bangladesh.
  • Md Abul Kalam Azad Professor, Department of Internal Medicine, BSMMU, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/birdem.v11i2.53138

Keywords:

Fabry disease, angiokeratomacorporis diffusum, a-galactosidase A activity.

Abstract

Fabry disease is a rare X-linked recessive inborn error of metabolism due to deficient activity of the lysosomal enzyme, a-galactosidase A (a-Gal A). This results in the tissue accumulation of uncleaved glycosphingolipids within vascular endothelial lysosomes of various organs including skin, heart, kidneys and brain. We report a case of Fabry disease, in an 18-year-old boy, who presented with unilateral leg swelling and angiokeratoma corporis diffusum.

Birdem Med J 2021; 11(2): 145-147

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Published

2021-04-23

How to Cite

Alam, A., Sharleen, N., Prianka, N. J., Rahman, M. R., Yesmin, M., Asaduzzaman, A., & Azad, M. A. K. (2021). Fabry disease: a case report. BIRDEM Medical Journal, 11(2), 145–147. https://doi.org/10.3329/birdem.v11i2.53138

Issue

Section

Case Reports