COURSE 1


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.


MODULE 1 

Avoiding Misdiagnosis. Clinical Manifestations of Inherited Metabolic Disorders for Pediatric Rheumatologists and General Pediatricians

Language: English ● Duration: 30 minutes  

Presenter

Prof. ROLANDO CIMAZ, Meyer Pediatric Hospital, Florence, Italy

Learning Objectives:  (1) Understand how metabolic disease may present to a rheumatologist (2) Review the main musculoskeletal signs of mucopolysaccharidosis (3) Consider the signs and symptoms which should raise a suspicion in the differential diagnosis of JIA

FREE REGISTRATION TO DIRECTLY ACCESS THE VIDEO OF THE RECORDED WEBINAR

 


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MODULE 2 

Avoiding Misdiagnosis - Clinical Manifestations of Lysosomal Storage Disorders for Pediatric Endocrinologists and General Pediatricians

Language: English ● Duration: 30 minutes  

Presenter

NATALIA BELOVA, Pediatric Endocrinologist and Clinical Geneticist, Russia 

Learning Objectives: (1) Understand how metabolic disease may present to a paediatric endocrinologist (2) Review the main endocrine signs of mucopolysaccharidosis and other metabolic disorders (3) Consider the signs and symptoms which should raise a suspicion in the differential diagnosis to the common endocrine condition

FREE REGISTRATION TO DIRECTLY ACCESS THE VIDEO OF THE RECORDED WEBINAR

 


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MODULE 3 

Mucopolysaccharidosis type I - Hurler / Scheie and in between

Language: English ● Duration: 30 minutes  

Presenter

Prof. SUSANNE KIRCHER, University of Vienna, Austria

Learning Objectives: A short overview of the group of mucopolysaccharide storage diseases with special focus on mucopolysaccharidosis type I (MPS I). (1) What are the typical signs of Hurler patients and what can we see in Scheie patients? (2) How can the diagnosis be confirmed and why is it important for pediatricians as well as medical doctors for adults? 

FREE REGISTRATION TO DIRECTLY ACCESS THE VIDEO OF THE RECORDED WEBINAR

 


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MODULE 4 

Avoiding the Misdiagnosis of Rheumatic Conditions with Other Disorders. What Pediatric Rheumatologists & Pediatricians Should Look for

Language: English ● Duration: 44 minutes  

Presenter

SYLVIA KAMPHUIS, Erasmus MC, Rotterdam, The Netherlands

Learning Objectives: (1) Recognise inborn errors of metabolism that can mimic the clinical phenotype of JIA (2) Learn which key features distinguish genetic disorders from JIA and systemic autoimmune diseases (3) Learn which diagnostics need to be done to rule out genetic (metabolic) disorders

FREE REGISTRATION TO DIRECTLY ACCESS THE VIDEO OF THE RECORDED WEBINAR

 


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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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