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 Caroline Sevin, Pediatric Neurology Leukodystrophy Reference Center, Pediatric Neurology department, Université Paris-Saclay, Hôpital Bicêtre, France 


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 the main red flags - when you should ‘think rare’  
  2. Identifying the red flags in the caregiver's language used in consultations - peer comparisons and described symptoms 
  3. Using all information available to Spot the Early Signs of MLD - feedback from teachers, nursery, and family videos 
  4. Discussing who you can reach out to for support and the next steps to take in the referral process 
  5. Understanding the patient and parent journey - MLD identification, referral and support examples


Watch the video!

The Spot the Early Signs 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.