2型唾液酸沉积症：一名13岁男性的罕见常染色体隐性疾病：病例报告
Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13-Year-Old Male: A Case Report.
作者信息
Yadav Kundan Kumar, Pokhrel Milan, Bashyal Geeta, Pokharel Shankar, Kunwar Santoshi Pokharel
机构信息
Maharajgunj Medical Campus Institute of Medicine, Tribhuvan University Kathmandu Nepal.
Department of Pediatrics Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University Kirtipur Nepal.
出版信息
Clin Case Rep. 2025 Mar 17;13(3):e70331. doi: 10.1002/ccr3.70331. eCollection 2025 Mar.
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.
本报告介绍了一名13岁男性，有身体异常运动、全身无力和发育倒退症状，经进一步评估确诊为2型唾液酸沉积症。基因检测是诊断此类罕见疾病的关键，且治疗困难，尤其是在资源有限的环境中。
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