Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13-Year-Old Male: A Case Report

2型唾液酸缺乏症:一例13岁男性罕见的常染色体隐性遗传病病例报告

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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.

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