About the topic

Paediatric stroke due to inborn errors of metabolism (IEMs) is a challenging clinical entity in which a cascade of stress-induced metabolic derangements may precipitate the rapid onset of neurological deficits. These deficits may range from motor, verbal, and cognitive impairments to acute encephalopathy, with or without associated multisystem involvement. Given the marked genetic and clinical heterogeneity of IEMs presenting with stroke, an integrated diagnostic approach incorporating clinical characteristics, neuroimaging, biochemical investigations, and molecular genetic testing is essential to enable timely targeted therapy, accurate prognostication, genetic counselling, and family screening.

Panel

Learning Objectives

By the end of this session, participants will be able to:

• Navigate the diverse landscape of paediatric stroke caused by inborn errors of metabolism, with a focus on clinical, neuroimaging, biochemical, and genetic insights.
• Apply practical diagnostic tools presented through challenging case vignettes and expert panel discussion to improve diagnostic accuracy and support early therapeutic intervention.
• Promote multidisciplinary collaboration and evidence-based practice to enhance functional outcomes for children affected by metabolic stroke.