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.
Duration: 30 minutes, followed by questions from the audience
Presenter: Roberto Giugliani, Professor of Medical Genetics, Federal University of Rio Grande do Sul, Brazil
This educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Endocrinologists, Pediatric Rheumatologists, and other physicians and healthcare professionals interested in Metabolic Diseases.
Reviewing several case studies demonstrating the importance of suspecting and detecting MPS through the various signs.
Examining the multi-systemic features of the diseases through cases.
Know what the musculoskeletal manifestations of mucopolysaccharidoses are.
Understanding the latest treatment options available to the patient.