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, confusing non-trained HCPs at first contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment. Delays in starting treatment significantly affect the conditions’ development and the patient’s health and quality of life. This delay in referral and treatment must be overcome. 

Language: English ● Duration: 30 minutes, followed by questions from the audience 

Presenter: Dr Nicole I Wolf, Ass. Professor, Department of Child Neurology, Center for Childhood White Matter Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, the Netherlands.


This educational activity is designed for an international audience of general pediatricians, general practitioners, pediatric neurologists, physicians, and healthcare professionals interested in metabolic diseases and genetics. 


  1. Explaining the hereditary causes, disease characteristics, signs and symptoms of MLD 
  2. Exploring the impact on the central nervous system, peripheral nervous system and motor function
  3. Reviewing how early-onset clinical manifestations are often overlooked or confused with other conditions 
  4. Understanding the early signs of MLD that every pediatrician should look for that should trigger an early referral


Watch the video!