Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report
This report presents a 13-year-old male with abnormal body movements, generalized body weakness, and developmental regression who was further evaluated to conclude type 2 Sialidosis as the diagnosis. Genetic testing is key in diagnosing such rare conditions, and management is difficult, particularly in resource-limited settings.
Authors
- Santoshi Pokharel (ORCID: https://orcid.org/0000-0003-2985-9794)
- Kundan Kumar Yadav (ORCID: https://orcid.org/0009-0004-5649-625X)
- Geeta Bashyal
- Shankar Pokharel
- Milan Pokhrel
Institutions
- Tribhuvan University Teaching Hospital (NP)
- Nepalese Army Institute of Health Services (NP)
- Kathmandu Medical College Teaching Hospital (NP)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1002/ccr3.70331
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00