Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report
ABSTRACT 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, par...
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| Format: | Article |
| Language: | English |
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Wiley
2025-03-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.70331 |
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| author | Kundan Kumar Yadav Milan Pokhrel Geeta Bashyal Shankar Pokharel Santoshi Pokharel Kunwar |
| author_facet | Kundan Kumar Yadav Milan Pokhrel Geeta Bashyal Shankar Pokharel Santoshi Pokharel Kunwar |
| author_sort | Kundan Kumar Yadav |
| collection | DOAJ |
| description | ABSTRACT 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. |
| format | Article |
| id | doaj-art-d0c8d8e4ad434f8f9609c7fdef3033d5 |
| institution | Kabale University |
| issn | 2050-0904 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-d0c8d8e4ad434f8f9609c7fdef3033d52025-08-20T03:39:54ZengWileyClinical Case Reports2050-09042025-03-01133n/an/a10.1002/ccr3.70331Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case ReportKundan Kumar Yadav0Milan Pokhrel1Geeta Bashyal2Shankar Pokharel3Santoshi Pokharel Kunwar4Maharajgunj Medical Campus Institute of Medicine, Tribhuvan University Kathmandu NepalMaharajgunj Medical Campus Institute of Medicine, Tribhuvan University Kathmandu NepalDepartment of Pediatrics Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University Kirtipur NepalKathmandu Medical College and Teaching Hospital Kathmandu NepalNepal Army Institute of Health Sciences‐College of Medicine Kathmandu NepalABSTRACT 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.https://doi.org/10.1002/ccr3.70331autosomal recessivecase reportmucolipidosispediatricsSialidosis |
| spellingShingle | Kundan Kumar Yadav Milan Pokhrel Geeta Bashyal Shankar Pokharel Santoshi Pokharel Kunwar Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report Clinical Case Reports autosomal recessive case report mucolipidosis pediatrics Sialidosis |
| title | Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report |
| title_full | Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report |
| title_fullStr | Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report |
| title_full_unstemmed | Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report |
| title_short | Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report |
| title_sort | type 2 sialidosis a rare autosomal recessive condition in a 13 year old male a case report |
| topic | autosomal recessive case report mucolipidosis pediatrics Sialidosis |
| url | https://doi.org/10.1002/ccr3.70331 |
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