Language: English Language: English Language: 


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: Prof. Ingeborg Kraegeloh-Mann, Professor of Paediatrics, Managing Director University Children's Hospital, Medical Director Department of Paediatrics and Developmental Neurology, Eberhard Karls University Children Hospital Tübingen (Germany)


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. Reviewing different disease trajectories, their clinical characteristics and dynamics and the different needs
  2. Exploring possible misdiagnosis, wrong referral routes and delays in the early start of treatment that should be avoided
  3. An introduction to clinical management of MLD through case reports and clinical insights
  4. Understanding the need to Spot the Early Signs of MLD and to refer as early as possible


Watch the video!