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Sialidosis type 1 in a Turkish family: a case report and review of literatures

  • Mustafa Kılıç ORCID logo EMAIL logo , Suzan İcil ORCID logo , Abdullah Sezer ORCID logo , Öznur Kaya-Güneş ORCID logo und Selim S. Comoğlu ORCID logo
Veröffentlicht/Copyright: 30. Dezember 2024
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 38 Heft 2

Abstract

Objectives

Sialidosis type 1 is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the NEU1 gene, which encodes the sialic acid-degrading enzyme α-neuraminidase. Sialidosis type 1 is a milder form with a late-onset phenotype, characterized by progressive myoclonic epilepsy and ataxia with cherry-red spots. Sialidosis type 2 is an early-onset and more severe form presenting with dysmorphic features, hepatosplenomegaly and cognitive delay. Clinical diagnosis is usually supported by increased urinary bound sialic acid excretion and confirmed by genetic analysis or demonstration of α-neuraminidase enzyme deficiency in cultured fibroblasts. The aim of this study was to present a case of type 1 sialidosis, review the literature, and investigate genotype–phenotype correlations, symptom frequencies, and race-specific mutations in patients diagnosed with type 1 sialidosis.

Case presentation

We report herein a family of four Turkish siblings affected with sialidosis type 1 associated with a homozygous variant, c.403G>A p. (Asp135Asn), in the NEU1 gene. A systematic literature review on sialidosis type 1 was carried out, by the PubMed database was searched using keywords included sialidosis and/or NEU1 gene. We selected case reports or series that included genetically confirmed type 1 sialidosis from 1996 to 2023. So far, nearly genetically confirmed 80 patients from unrelated 65 families, more than 40 NEU1 disease causing mutations, have been identified in patients with sialidosis type 1. Among the reported mutations, missense variants are the most common, and few nonsense, frameshift, exonic duplications or small deletions have been reported. c.239C>T p. (Pro80Leu) variant in Chinese and Japanese patients, c.649G>A p. (Val217Met) variant in Japanese patients, c.880C>T p. (Arg294Cys) variant in Indian patients, c.629C>T p. (Pro210Leu) variant in Ecuadorian patients, c.982G>A p. (Gly328Ser) variant in Italian patients, and c.403G>A p (Asp135Asn) and c.625del p. (Glu209Serfs*94) variants in Turkish patients were found higher.

Conclusions

Race-specific variants were found with higher percentages in certain populations.

Keywords: sialidosis; neuraminidase 1; cherry-red spots; myoclonus; ataxia; NEU1
Corresponding author: Prof. Dr. Mustafa Kılıç, Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, University of Health Science, Varlık mah. Halil Sezai Erkut Cad., Yenimahall 06170, Ankara, Türkiye, E-mail:
Mustafa Kılıç and Suzan İcil contributed equally to this work and share first authorship.

Acknowledgments

The authors would like to thank the patients and their parents for permission to publish this manuscript.

  1. Research ethics: The local Institutional Review Board deemed the study exempt from review.

  2. Informed consent: Informed consent was obtained from all individuals included in this study.

  3. Author contributions: M.K. and S.İ.: Management and writing the manuscript; M.K.: Diagnosis and revision of manuscript and approved the manuscript for important intellectual content and will act as guarantor of the paper. S.S.C.: Participated in the collection of neurological clinical data and interpreted the data. Ö.K.G. and A.S.: Participated in the collection of genetic data and drafted the work. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  4. Use of Large Language Models, AI and Machine Learning Tools: None declared.

  5. Conflict of interest: The authors state no conflict of interest.

  6. Research funding: None declared.

  7. Data availability: Not applicable.

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Received: 2024-09-30
Accepted: 2024-12-10
Published Online: 2024-12-30
Published in Print: 2025-02-25

© 2024 Walter de Gruyter GmbH, Berlin/Boston

Artikel in diesem Heft

  1. Frontmatter
  2. Original Articles
  3. Effects of orlistat on body mass index and serum lipids in overweight and obese adolescents: a meta-analysis
  4. Psychological and behavioral assessments in girls with idiopathic central precocious puberty
  5. The effect of phlebotomy and placement of an intravenous catheter on plasma catecholamine and serum copeptin concentrations
  6. Laparoscopic adrenalectomy in children with diverse adrenal pathologies: the impact of pre-operative imaging in decision making process
  7. Short- to medium-term follow-up of normoponderal children and adolescents with subclinical hypothyroidism: a retrospective study of the last 15 years
  8. Newborn screening follow-up in Bavaria: height and weight in paediatric patients with congenital adrenal hyperplasia
  9. Patterns and determinants of serum amylase, lipase concentrations in Indian adolescents and youth with type 1 diabetes
  10. Pediatric Graves’ disease in Argentina: analyzing treatment strategies and outcomes
  11. Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother
  12. Short Communication
  13. Does clonidine stimulate copeptin in children?
  14. Case Report and Review of the Literature
  15. Sialidosis type 1 in a Turkish family: a case report and review of literatures
  16. Case Reports
  17. Central precocious puberty in a toddler with hypothalamic hamartoma
  18. Autosomally dominantly inherited isolated gonadotropin deficiency via maternal assisted reproduction due to SOX10 mutation
  19. Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency
https://doi.org/10.1515/jpem-2024-0468
Schlagwörter für diesen Artikel
sialidosis; neuraminidase 1; cherry-red spots; myoclonus; ataxia; NEU1

Artikel in diesem Heft

  1. Frontmatter
  2. Original Articles
  3. Effects of orlistat on body mass index and serum lipids in overweight and obese adolescents: a meta-analysis
  4. Psychological and behavioral assessments in girls with idiopathic central precocious puberty
  5. The effect of phlebotomy and placement of an intravenous catheter on plasma catecholamine and serum copeptin concentrations
  6. Laparoscopic adrenalectomy in children with diverse adrenal pathologies: the impact of pre-operative imaging in decision making process
  7. Short- to medium-term follow-up of normoponderal children and adolescents with subclinical hypothyroidism: a retrospective study of the last 15 years
  8. Newborn screening follow-up in Bavaria: height and weight in paediatric patients with congenital adrenal hyperplasia
  9. Patterns and determinants of serum amylase, lipase concentrations in Indian adolescents and youth with type 1 diabetes
  10. Pediatric Graves’ disease in Argentina: analyzing treatment strategies and outcomes
  11. Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother
  12. Short Communication
  13. Does clonidine stimulate copeptin in children?
  14. Case Report and Review of the Literature
  15. Sialidosis type 1 in a Turkish family: a case report and review of literatures
  16. Case Reports
  17. Central precocious puberty in a toddler with hypothalamic hamartoma
  18. Autosomally dominantly inherited isolated gonadotropin deficiency via maternal assisted reproduction due to SOX10 mutation
  19. Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency
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