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



Presenter: Dr Alberto Zambon, Neurologist, Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy



  1. Reviewing the main paediatric presentations of MLD that all paediatricians should be aware of
  2. Understanding the challenges of early diagnosis and how to avoid missing early-onset Clinical Manifestations of MLD
  3. Exploring the importance of an early referral and the impact that diagnosis delays have on long-term outcomes



Metachromatic Leukodystrophy (MLD) is a rare hereditary disease characterized by the accumulation of fats called sulfatides. 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 educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Neurologists, and other physicians and healthcare professionals interested in Metabolic Diseases.


Watch the video!