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



Presenter: Dr. Bianca Link, Senior Physician and Specialist Registrar, Metabolic Department and Soft Tissue Unit Kinderspital Zurich, Switzerland (CH)



  1. Recent Case Study examples of musculoskeletal manifestations of mucopolysaccharidoses.
  2. Reviewing how to recognize precocious musculoskeletal signs for metabolic disease and what these look like in practice.
  3. Using examples to understand the timing of orthopaedic surgical options based on the presenting signs of MPS.



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 early treatment could make a significant difference in the condition's development, the quality of life and the 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!