Metachromatic Leukodystrophy (MLD) is a rare hereditary disease characterized by the accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central nervous system and the peripheral nervous system, ultimately affecting intellectual and motor function. Early-onset clinical manifestations are often overlooked or confused with other conditions causing confusion among non-trained HCPs at first contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment. Delays in starting treatment have significant consequences on the conditions’ development and the patient’s health and quality of life. This delay in referral and treatment must be overcome. The 2-hours course covers the basics of MLD, practical neurological case studies that offer the opportunity to connect the theory with the practice and treatment options.


By the end of this course, participants will:

  • Understand the key signs and early symptoms on MLD in Children - with a knowledge of the hereditary causes, disease characteristics and what should trigger a referral

  • Identify the main neurological presenting sign and understand the impact of delays on the start of treatment on the condition’s development

  • Understand the main misdiagnosis and wrong referral routes for early onset MLD in children

  • Have a comprehensive overview of the effective clinical management and established and emerging treatments for children with MLD


This educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Neurologists, and other physicians and healthcare professionals with an interest in neurology.



The online course is accredited by the European Accreditation Council for Continuing Medical Education (EACCME). The credits for the users of the course are 1 European CME credit (ECMEC®) for every hour (60 minutes of actual e-learning excluding introductions etc.) of use, provided that the users have completed a module and have passed the relevant assessment.


The scientific content of this course has been developed free from the control of commercial interest and presents a scientifically balanced perspective of the subjects included.


  • 1

    MODULE 1

    • About the Module

    • Video: An Introduction and Overview of Metachromatic Leukodystrophy (MLD) in Children

    • Further Readings

    • Test of Module 1

  • 2

    MODULE 2

    • About the Module

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

    • Referral and Clinical Management of Metachromatic Leukodystrophy (MLD) - Case Study

    • Further Readings

    • Test of Module 2

  • 3

    MODULE 3

    • About the Module

    • Established & Emerging Treatments for Metachromatic Leukodystrophy (MLD)

    • Further Readings

    • Test of Module 3

    • Evaluation Survey


 Dr Nicole I Wolf (NL), Dr Simon Jones (UK), Prof. Ingeborg Kraegeloh-Mann (DE), and Dr Francesca Fumagalli, (IT) 


Complete the test in each module to get your certificate and credits

At the end of each module, you will be able to assess your level of understanding with a short test. This will help you to determine your own understanding of the course material and identify sections you may wish to revisit. With a minimum passing grade of 80%, as soon as you complete the test in each module you will receive the credit points and a certificate. Each test consists of 4 questions and each question is worth 1 point. The questions can have the following formats: True/false Multiple choice, Fill-the-gap, Drag-and-drop.



The Excellence in Pediatrics Institute (EIPI) is a not-for-profit association that provides continuing medical education to a global network of over 45,000 child health care professionals. EIPI's purpose is to act as a hub for sharing the latest developments and advice with all stakeholders involved in the care of children and adolescents. By leveraging the collective expertise and research of leading global pediatric healthcare professionals, EIPI aims to facilitate an open exchange of scientific knowledge and clinical best practices. EIPI strives to build a global community of child healthcare professionals that nurtures and supports their continuing education requirements and ever-changing needs.


The program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients. Following a Peer2Peer educational approach, the program targets to improve everyday practise and the way child healthcare professions advise and treat the children and families they support. Pediatricians and family doctors are likely to be the first healthcare professionals to observe symptoms, and it is important to help these front-line clinicians suspect, diagnose, and refer patients.


The Spot The Early Signs program is partially supported by unrestricted educational grants from Genzyme and Orchard.