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- Approach to Neurometabolic Diseases: Lessons for the Young Paediatric Neurologists
Approach to Neurometabolic Diseases: Lessons for the Young Paediatric Neurologists
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Topic: Approach to Neurometabolic Diseases: Lessons for the Young Paediatric Neurologists
Lecturers: Dr Hadi Helali (Speaker); Dr Sukanya Vrushabendra (Speaker); Dr Samir Khalid Munir (Expert Faculty); Prof. Ingrid Tein (Panellist); Dr Ozlem Ersoy (Moderator)
When: Saturday, October 18, 2025
Time: 09:00 AM Eastern Time ( US/ Canada )
About the topic
2 Early-career physicians in Child Neurology will present two cases of neurometabolic diseases. The cases will be followed by the expert discussion, highlighting the relevance of clinical clues to the diagnosis of neurometabolic disease, how to approach them and the latest precision medicine options to treat them. Neurometabolic disorders are rare, sometimes inherited genetic conditions that disrupt the body's ability to process nutrients, leading to a buildup of harmful substances or a lack of essential energy for the brain and other organs. Symptoms can vary widely and may include seizures, developmental delays, muscle weakness, and problems with vision or hearing. Diagnosis involves specialised medical consultations and testing like blood tests, genetic tests, and MRIs, while treatment focuses on managing symptoms and improving quality of life.
Learning Objectives
o Describe clinical clues to suspect neurometabolic diseases.
o Outline diagnostic approach to neurometabolic diseases.
o Present the latest advancements in the treatment of neurometabolic disease and their outcomes.
2 Early-career physicians in Child Neurology will present two cases of neurometabolic diseases. The cases will be followed by the expert discussion, highlighting the relevance of clinical clues to the diagnosis of neurometabolic disease, how to approach them and the latest precision medicine options to treat them. Neurometabolic disorders are rare, sometimes inherited genetic conditions that disrupt the body's ability to process nutrients, leading to a buildup of harmful substances or a lack of essential energy for the brain and other organs. Symptoms can vary widely and may include seizures, developmental delays, muscle weakness, and problems with vision or hearing. Diagnosis involves specialised medical consultations and testing like blood tests, genetic tests, and MRIs, while treatment focuses on managing symptoms and improving quality of life.
Learning Objectives
o Describe clinical clues to suspect neurometabolic diseases.
o Outline diagnostic approach to neurometabolic diseases.
o Present the latest advancements in the treatment of neurometabolic disease and their outcomes.
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