Accessible 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, 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

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.

  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.

References

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

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

Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2017-0397).

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

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