Early Infantile Galactosialidosis Presenting with an Unusual Renal InvolvementBanu Guzel Nur1, Gulsah Kaya Aksoy2, Mustafa Koyun2, Sema Akman2 and Ercan Mihci1*
- *Corresponding Author:
- Ercan Mihci
Pediatrician, Akdeniz University School of Medicine
Department of Pediatric Genetics, Antalya, Turkey
E-mail: [email protected]
Received date: August 01, 2014; Accepted date:September 17, 2014; Published date: September 23, 2014
Citation: Nur BG, Aksoy GK, Koyun M, Akman S, Mihci E (2014) Early Infantile Galactosialidosis Presenting with an Unusual Renal Involvement. J Genet Syndr Gene Ther 5:244 doi: 10.4172/2157-7412.1000244
Copyright: © 2014 Nur BG, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Galactosialidosis is a rare lysosomal storage disease associated with deficiencies of beta-galactosidase and neurominidase. In this report, we present a 9-month-old early infantile Galactosialidosis infant with renal involvement. In the literature only isolated cases of Galactosialidosis with IgA nepropathy, renal insufficiency and renal transplantation reported. To the best of our knowledge, the patient is the first case reported in the literature in which steroid resistant nephrotic syndrome has been found in a Galactosialidosis patient.