Spot the Early SignsProgram

Recorded Courses

Course 1: Avoiding Misdiagnosis by recognising MPS symptoms resembling Endocrine and Rheumatic Conditions


Misdiagnosis of Metabolic Disorders 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; (a) trying to address symptoms directly and therefore delaying actual diagnosis and treatment, or (b) referring the patient to the wrong pediatric specialties causing further delays in the condition’s management chain.

The course is free to attend and a certificate of attendance will be provided by the Excellence in Pediatrics Institute for those who will attend all modules of the course. Visit the links to each module below and register to access the recorded videos.


(SES-C1-M1) Avoiding Misdiagnosis. Clinical Manifestations of Inherited Metabolic Disorders for Pediatric Rheumatologists and General Pediatricians
  Prof. ROLANDO CIMAZ, Meyer Pediatric Hospital, Florence, Italy
(SES-C1-M2) Avoiding Misdiagnosis - Clinical Manifestations of Lysosomal Storage Disorders for Pediatric Endocrinologists and General Pediatricians
  NATALIA BELOVA, Pediatric Endocrinologist and Clinical Geneticist, Russia
(SES-C1-M3) Mucopolysaccharidosis type I - Hurler / Scheie and in between
  Prof. SUZANNE KIRCHER, University of Vienna, Austria
(SES-C1-M4) Avoiding the Misdiagnosis of Rheumatic Conditions with Other Disorders. What Pediatric Rheumatologists & Pediatricians Should Look for
  SYLVIA KAMPHUIS, Erasmus MC, Rotterdam, The Netherlands
  All webinars and courses are independently organised by EiP in terms of content, topics and speakers appointed. Unrestricted grants are sought to support EIP activities and Sanofi Genzyme has provided an unrestricted grant to partially support EIP's work on the misdiagnosis of metabolic disorders.  

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