
Excellence in Pediatrics is a non-profit
global network dedicated to advancing
pediatric healthcare.
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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.
Exploring the diagnostic journey of the patient through the lens of a real-life case study examplesConsidering how the path to diagnosis could be improved for individuals and their families. Understanding the importance of an early diagnosis, the barriers to diagnosis and how they can be overcome.