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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

Online
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2191-0251
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Volume 31, Issue 10

Issues

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

Tamara ŽigmanORCID iD: https://orcid.org/0000-0003-1184-8798 / Danijela Petković Ramadža
  • Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
  • University of Zagreb, School of Medicine, Zagreb, Croatia
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Mario Lušić / Marija Zekušić / Dorotea NinkovićORCID iD: https://orcid.org/0000-0002-4239-519X / Danilo Gardijan / Kristina Potočki
  • University of Zagreb, School of Medicine, Zagreb, Croatia
  • Department of Radiology, University Hospital Center Zagreb, Zagreb, Croatia
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Lana Omerza / Lucija Beljan / Kamelija Žarković
  • University of Zagreb, School of Medicine, Zagreb, Croatia
  • Department of Pathology and Cytology, University Hospital Center Zagreb, Zagreb, Croatia
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/ Jennifer Kerkhof
  • Department of Pathology and Laboratory Medicine, Western University, London Health Sciences Centre and St. Joseph’s Health Care London, London Ontario, Canada
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/ Marija Ljubojević / Monique de Sain-van der Velden / Jurica Vuković
  • Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
  • University of Zagreb, School of Medicine, Zagreb, Croatia
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ksenija Fumić / Bekim Sadiković
  • Department of Pathology and Laboratory Medicine, Western University, London Health Sciences Centre and St. Joseph’s Health Care London, London Ontario, Canada
  • Other articles by this author:
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/ Ivo Barić
  • Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
  • University of Zagreb, School of Medicine, Zagreb, Croatia
  • Other articles by this author:
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Published Online: 2018-09-22 | DOI: https://doi.org/10.1515/jpem-2017-0397

Abstract

Background

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.

Conclusions

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.

This article offers supplementary material which is provided at the end of the article.

Keywords: fetal ascites; fetal MRI; free sialic acid storage disease

References

  • 1.

    Adams D, Gahl W. Free sialic acid storage disorders. GeneReviews. Seattle (WA): University of Washington, Seattle, 1993–2017/Last Update June 2013.Google Scholar

  • 2.

    Aula N, Jalanko A, Aula P, Peltonen L. Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. Mol Genet Metab 2002;77:99–107.PubMedCrossrefGoogle Scholar

  • 3.

    Lemyre E, Russo P, Melancon SB, Gagne R, Potier M, et al. Clinical spectrum of infantile free sialic acid storage disease. Am J Med Genet 1999;82:385–91.PubMedCrossrefGoogle Scholar

  • 4.

    Varho TT, Alajoki LE, Posti KM, Korhonen TT, Renlund MG, et al. Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. Pediatr Neurol 2002;26:267–73.CrossrefPubMedGoogle Scholar

  • 5.

    Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, et al. Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. Am J Med Genet 2003;120A:28–33.CrossrefGoogle Scholar

  • 6.

    Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, et al. Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. Mol Genet Metab 2004;82:137–43.PubMedCrossrefGoogle Scholar

  • 7.

    Erikson A, Aula N, Aula P, Mansson JE. Free sialic acid storage (Salla) disease in Sweden. Acta Paediatr 2002;91:1324–7.PubMedCrossrefGoogle Scholar

  • 8.

    Van der Ham M, Prinsen BH, Huijmans JG, Abeling NG, Dorland B, et al. Quantification of free and total sialic acid excretion by LC-MS/MS. J Chromatogr B Analyt Technol Biomed Life Sci 2007;848:251–7.CrossrefPubMedGoogle Scholar

  • 9.

    Varho T, Jääskeläinen S, Tolonen U, Sonninen P, Vainionpää L, et al. Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. Neurology 2000;55:99–104.PubMedCrossrefGoogle Scholar

  • 10.

    Morse RP, Kleta R, Alroy J, Gahl WA. Novel form of intermediate salla disease: clinical and neuroimaging features. J Child Neurol 2005;20:814–6.PubMedCrossrefGoogle Scholar

  • 11.

    Parazzini C, Arena S, Marchetti L, Menni F, Filocamo M, et al. Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features. Am J Neuroradiol 2004;24:398–400.Google Scholar

  • 12.

    Whybra C, Mengel E, Russo A, Bahlmann F, Kampmann C, et al. Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. Orphanet J Rare Dis 2012;7:86.CrossrefWeb of ScienceGoogle Scholar

About the article

Received: 2017-10-03

Accepted: 2018-07-16

Published Online: 2018-09-22

Published in Print: 2018-10-25


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

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

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.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 31, Issue 10, Pages 1155–1159, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2017-0397.

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