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Misdiagnosis of Mucopolysaccharidosis (MPS) results in late diagnosis and the late start of treatment, which has significant consequences on long-term outcomes. This gap usually results in confusing symptoms with other conditions, most notably trying to address symptoms directly and delaying actual diagnosis and treatment or referring the patient to the wrong pediatric specialties, causing further delays in the condition’s management chain.
Know what are the musculoskeletal manifestations of mucopolysaccharidoses and Alpha-mannosidosis.Recognize some precocious musculoskeletal signs suggestive for metabolic disease in order to send the patients to the right diagnostic pathway.Understand the orthopaedic surgical options (and their timing) in a child affected by mucopolysaccharidoses.