
Excellence in Pediatrics is a non-profit
global network dedicated to advancing
pediatric healthcare.
Rue des Vignerons 18, 1110 Morges 1 (VD), Switzerland
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.
Recent case study examples of musculoskeletal manifestations of mucopolysaccharidoses.Case studies will be used to explore the main signs of endocrine presenting and other signs of MPS.Review the next steps after a diagnosis and how to maximize treatment for the patient.