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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
Published/Copyright: September 22, 2018
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 31 Issue 10

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.

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

  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;77:99–107.10.1016/S1096-7192(02)00124-5Search 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;82:385–91.10.1002/(SICI)1096-8628(19990219)82:5<385::AID-AJMG6>3.0.CO;2-3Search 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;26:267–73.10.1016/S0887-8994(01)00406-4Search 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:28–33.10.1002/ajmg.a.20024Search 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;82:137–43.10.1016/j.ymgme.2004.03.001Search in Google Scholar

7. Erikson A, Aula N, Aula P, Mansson JE. Free sialic acid storage (Salla) disease in Sweden. Acta Paediatr 2002;91:1324–7.10.1111/j.1651-2227.2002.tb02828.xSearch 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;848:251–7.10.1016/j.jchromb.2006.10.066Search 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;55:99–104.10.1212/WNL.55.1.99Search 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;20:814–6.10.1177/08830738050200100601Search 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;7:86.10.1186/1750-1172-7-86Search 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

©2018 Walter de Gruyter GmbH, Berlin/Boston

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  18. Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene
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https://doi.org/10.1515/jpem-2017-0397
Keywords for this article
fetal ascites; fetal MRI; free sialic acid storage disease

Articles in the same Issue

  1. Frontmatter
  2. Original Articles
  3. The associations between mental health, health-related quality of life and insulin pump therapy among children and adolescents with type 1 diabetes
  4. Achieving target levels for vascular risk parameters in Polish school-age children with type 1 diabetes – a single center study
  5. Adipocyte aquaporin 7 (AQP7) expression in lean children and children with obesity. Possible involvement in molecular mechanisms of childhood obesity
  6. Use of complementary and alternative medicine in patients with inherited metabolic disease
  7. Are breast milk adipokines affected by maternal dietary factors?
  8. Comparison of serum 25-hydroxyvitamin D levels between radioimmunoassay and liquid chromatography-tandem mass spectrometry in infants and postpartum women
  9. Reference intervals for neonatal thyroid function tests in the first 7 days of life
  10. Treatment outcomes in pediatric differentiated thyroid carcinoma
  11. Seasonality of month of birth in children and adolescents with autoimmune thyroiditis: a continuing conundrum
  12. Follow-up in children with non-obese and non-autoimmune subclinical hypothyroidism
  13. Glucose intolerance in children with cystic fibrosis: a developing country’s perspective
  14. Letter to the Editor
  15. A patient with classical galactosemia is graduated with a university degree
  16. Case Reports
  17. Prepubertal gynaecomastia in a boy with Peutz-Jeghers syndrome: managing the aromatase overexpression
  18. Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene
  19. Xanthogranuloma of the sellar region accompanied by growth hormone deficiency: case report and literature review
  20. A case of Graves’ disease associated with membranoproliferative glomerulonephritis and leukocytoclastic vasculitis
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