Language: English
Duration: 30 minutes, followed by questions from the audience



Presenter: Dr. Dafne HorovitzInstituto Nacional de Saude da Mulher, da Criança e do Adolescente Fernandes Figueira, Fiocruz, Rio de Janeiro, Brazil



  1. Recent Case Study examples of musculoskeletal manifestations of mucopolysaccharidoses.
  2. Using Case Studies to explore the main endocrine presenting signs and other signs of MPS.
  3. Review the next steps after a diagnosis and how to maximise treatment for the patient.



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.

The Spot the Early Signs program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and treatment could make a significant difference in the condition's development, quality of life and survival of patients.


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.


Watch the video!