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



Presenter: Prof. Ana Maria Martins, Clinical Geneticist, Director of the Reference Center in Inborn Errors of Metabolism, Adjunct Professor at the Federal University of Sao Paulo, Brazil



  1. Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.
  2. Looking at their main endocrine presenting signs and other signs of MPS.
  3. How to avoid the misdiagnosis in practice.



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!