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

• DOI: 10.1002/ccr3.70331
• Publication Date: 2025-03-18T05:07:17Z
• Authors: Kundan Kumar Yadav; Milan Pokhrel; Geeta Bashyal; Shankar Pokharel; Santoshi Pokharel...

ABSTRACT This report presents a 13‐year‐old male with abnormal body movements, generalized 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, management difficult, particularly resource‐limited settings.