
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.
A short overview of the group of mucopolysaccharide storage diseases with special focus on mucopolysaccharidosis type I (MPS I)What are the typical signs of Hurler patients, and what can we see in Scheie patients?How can the diagnosis be confirmed,d and why is it important for pediatricians and medical doctors for adults?