Jornal de Síndromes Genéticas e Terapia Gênica
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Early Infantile Galactosialidosis Presenting with an Unusual Renal Involvement

Banu Guzel Nur, Gulsah Kaya Aksoy, Mustafa Koyun, Sema Akman and Ercan Mihci

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.