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Alpha-mannosidosis: a case with novel ultrastructural and light microscopy findings

  • Matthew Leong , Bindu Sathi , Amy Davis , Syed Hamid , Sandy Wu , Jeremy Woods , Sandhya Kharbanda , Xiaomo Li and Jean Hou EMAIL logo
Published/Copyright: November 20, 2023
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 12

Abstract

Objectives

Alpha-mannosidosis is a rare genetic lysosomal storage condition leading to the systemic buildup of oligomannoside. Clinical presentation and associated conditions, as well as the full extent of histopathologic changes associated with this disease process, are not fully understood.

Case presentation

We present the case of an 8-year-1-month old patient with persistent anemia and who was initially diagnosed with Celiac disease before ultimately being diagnosed with alpha-mannosidosis. As part of his diagnostic work-up, duodenal and bone marrow biopsies were examined by pathology. Duodenal biopsies showed foamy plasma cells expanding the lamina propria which triggered a workup for a genetic storage disease; features suggestive of Celiac disease which resolved on gluten-free diet were also noted by pathology. Bone marrow analysis via electron microscopy showed cytoplasmic granules and inclusions in multiple immune cell lines.

Conclusions

Alpha-mannosidosis can occur with Celiac disease and milder forms may only be suspected from incidental pathology findings. The ultrastructural bone marrow findings from this case, the first to be reported from human, show numerous disease-associated changes in multiple immune cell lines whose contribution to disease-associated immunodeficiency is unclear.

Keywords: alpha-mannosidosis; lysosomal storage disease; ultrastructural pathology; electron microscopy; Celiac disease
Corresponding author: Jean Hou, MD, Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, California, 90048, USA, E-mail:

  1. Research ethics: Not applicable.

  2. Informed consent: Informed consent was obtained from all individuals included in this study, or their legal guardians or wards.

  3. Author contributions: The authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  4. Competing interests: The authors state no conflict of interest.

  5. Research funding: None declared.

  6. Data availability: Not applicable.

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Received: 2023-08-20
Accepted: 2023-10-20
Published Online: 2023-11-20
Published in Print: 2023-12-15

© 2023 Walter de Gruyter GmbH, Berlin/Boston

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  15. Alpha-mannosidosis: a case with novel ultrastructural and light microscopy findings
  16. Letters to the Editor
  17. Reply to: The relationship between estrogen and subsequent growth restriction among adolescents with heavy menstrual bleeding at menarche
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https://doi.org/10.1515/jpem-2023-0357
Keywords for this article
alpha-mannosidosis; lysosomal storage disease; ultrastructural pathology; electron microscopy; Celiac disease

Articles in the same Issue

  1. Frontmatter
  2. Review
  3. Intracranial germ cell tumors: a view of the endocrinologist
  4. Original Articles
  5. Technology use and clinical outcomes in a racial-ethnic minority cohort of children and adolescents with type 1 diabetes
  6. The use of CGM to identify hypoglycemia and glycemic patterns in congenital hyperinsulinism
  7. The N221D variant in PCSK1 is highly prevalent in childhood obesity and can influence the metabolic profile
  8. Evaluation of the risk factors for noncommunicable diseases in patients with inborn errors of amino acid metabolism receiving nutrition therapy
  9. Features of liver injury in 138 Chinese patients with NICCD
  10. A case-control study of early-stage radiological markers of endothelial dysfunction and cardiovascular findings in patients with osteogenesis imperfecta: genotype–phenotype correlations
  11. Caregivers’ knowledge and medication adherence in children with thyroid disorders: an exploratory study
  12. Implementation of IT supported standardization of individualized hydrocortisone management for treatment of patients with adrenal insufficiency
  13. Interdisiplinary and intraobserver reliability of the Greulich-Pyle method among Turkish children
  14. Case Report
  15. Alpha-mannosidosis: a case with novel ultrastructural and light microscopy findings
  16. Letters to the Editor
  17. Reply to: The relationship between estrogen and subsequent growth restriction among adolescents with heavy menstrual bleeding at menarche
  18. In reply re: The relationship between estrogen and subsequent growth restriction among adolescents with heavy menstrual bleeding at menarche
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