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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.
Reviewing the main red flags, signs and symptoms, the basis of diagnostics and when to refer if you suspect MPS.Better understand how the suspect and confirm MPS patients in your everyday practice.Increase your awareness about the main presenting signs of mucopolysaccharidoses.Exploring the clues on when to suspect MPS based on the symptoms and family history.Reviewing how to best follow up with patients - what are the immediate next steps?