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Licensed Unlicensed Requires Authentication Published by De Gruyter September 22, 2018

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

  • Tamara Žigman ORCID logo EMAIL logo , Danijela Petković Ramadža , Mario Lušić , Marija Zekušić , Dorotea Ninković ORCID logo , Danilo Gardijan , Kristina Potočki , Lana Omerza , Lucija Beljan , Kamelija Žarković , Jennifer Kerkhof , Marija Ljubojević , Monique de Sain-van der Velden , Jurica Vuković , Ksenija Fumić , Bekim Sadiković and Ivo Barić



Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by the accumulation of free sialic acid in lysosomes.

Case presentation

The patient presented prenatally with fetal ascites and large scrotal hernias, without pleural or pericardial effusion. During the infantile period, he was diagnosed with permanent isolated immunoglobulin G (IgG) hypogammaglobulinemia, which thus far has rarely been associated with ISSD. The analysis of the SLC17A5 gene revealed a novel homozygous 94 bp gene deletion. We further provide a detailed description of pre- and postnatal clinical and radiographic findings.


Fetal ascites could be the first sign of several lysosomal storage diseases (LSDs), including ISSD. The analysis of LSD gene panels is an effective approach to diagnosis in the case of non-specific symptoms and when specific biochemical tests are not easily available.

  1. Author contributions: All authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


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Supplementary Material

The online version of this article offers supplementary material (

Received: 2017-10-03
Accepted: 2018-07-16
Published Online: 2018-09-22
Published in Print: 2018-10-25

©2018 Walter de Gruyter GmbH, Berlin/Boston

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