Avoiding Misdiagnosis of Metabolic Disorders Course


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 sessions of the course.

ONLINE SESSION RHE-S1: Avoiding Misdiagnosis. Clinical Manifestations of Inherited Metabolic Disorders for Pediatric Rheumatologists and General Pediatricians

♦︎ Date: Wednesday, Oct 10, 2018 
♦︎ Time: 
1:00 PM - 2:00 PM Central European Summer Time 
♦︎ Language: English 
♦︎
Presenter: ROLANDO CIMAZ, Professor, Head, Meyer Pediatric Hospital, Florence, Department of Health Sciences for Women and Children. 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

This Session has been organised and recorded. Click here to access the video

ONLINE SESSION END-S3: Avoiding Misdiagnosis - Clinical Manifestations of Inherited Metabolic Disorders for Pediatric Endocrinologists and General Pediatricians

♦︎ Date: Thursday, Oct 18, 2018 (1:00 PM - 2:00 PM Central European Summer Time) 
♦︎ Language: English 
♦︎ 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 common endocrine condition

This session has been organised and recorded. Click here to access the video

ONLINE SESSION IMD-S1: Mucopolysaccharidosis type I - Hurler / Scheie and in between

♦︎ Date: Wednesday, Nov 21, 2018 (1:00 PM - 2:00 PM Central European Time)
♦︎ Language: English
♦︎ Presenter: SUZANNE KIRCHER,
Prof.Dr.Dr., MBA, LSD Metabolism, Screening and Genetic Counseling, AUSTRIA
♦︎ Learning Objectives: 
A short overview about 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? 

This Session has been organised and recorded. Click here to access the video

ONLINE SESSION IMD-S2: Avoiding the Misdiagnosis of Rheumatic Conditions with Other Disorders. What Pediatric Rheumatologists & Pediatricians Should Look for

♦︎ Date: Thursday, Nov 22, 2018 (1:00 PM - 2:00 PM Central European Time)
♦︎ Language: English
♦︎ Presenter: SYLVIA KAMPHUIS,
Pediatric Rheumatologist / Immunologist, Pediatric Infectiology / Immunology/ Rheumatology, Erasmus MC, University Medical Center Rotterdam, NETHERLANDS
♦︎ Learning Objectives: (1)
Recognize inborn errors of metabolism that can mimick 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

This session has been organised and recorded. Click here to access the video

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 have provided an unrestricted grant in 2018 to partially support EIP's work on the misdiagnosis of metabolic disorders.

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