Fabry disease in childhood – overview and a case report

Czech version

Authors: Munzar Petr ¹; Mazurová Stella ²; Dubská Zora ³
Authors‘ workplace: Dětská neurologie Pardubice, s. r. o. ¹; Klinika pediatrie a dědičných poruch metabolismu, Všeobecná fakultní nemocnice v Praze a 1. lékařská fakulta, Univerzita Karlova, Praha ²; Oční klinika, Všeobecná fakultní nemocnice v Praze a 1. lékařská fakulta, Univerzita Karlova, Praha ³
Published in: Čes-slov Pediat 2022; 77 (4): 219-225.
Category: Case Report
doi: https://doi.org/10.55095/CSPediatrie2022/036

Overview

Fabry disease is a rare lysosomal storage disorder leading to glycosphingolipid accumulation in most of tissues. Its singns and symptoms are quite distinctive, particulary in childhood. It is possible and so imperative to detect the disease at young age and start the enzyme replacement therapy to decrease the risk of late complication development in adulthood. The article offers a brief description of the disease and an illustrative case report of 12-years-old boy.

Keywords:

Fabry disease – childhood – acroparesthesia – angiokeratomas – cornea verticillata – agalsidase – ERT

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