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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.
An overview of typical features of different forms of mucopolysaccharidoses.Taking a clue-by-clue approach, deconstructing the identification and referral process in detail.What all frontline pediatricians need to look for to spot the very early signs of MPS.Examining the importance of early detection where successful treatment is likely and available.MPS diagnosis case study - skeletal presenting symptoms - diagnosis in action.