Language: English

Duration: 42 minutes

Topic: Pediatric Presentation and Early Diagnosis of Metachromatic Leukodystrophy (MLD) - Case Study

Speaker: Simon Jones, Consultant in Paediatric Inherited Metabolic Disease, Senior Lecturer, The University of Manchester (UK)

Learning Objectives

  •  Understanding the main neurological presenting signs of Metachromatic Leukodystrophy in children through real-world case studies

  •  Reviewing the early-onset clinical manifestations and presenting symptoms that should trigger an immediate referral to a specialist

  •  Understanding that delays in the start of treatment have significant consequences on the conditions’ development and quality of life


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