DATE AND TIME
Wednesday, 6 September 2023, at 13:00 Central European Summer Time (CEST)
LANGUAGE AND DURATION
Duration: 30 minutes, followed by questions from the audience
Presenter: Dr Maria Del Mar O’Callaghan, Pediatric Neurologist, San Juan De Deu Hospital (SJDH), Barcelona, Spain
- Reviewing examples of paediatric presentations of MLD and the challenges of early diagnosis.
- Exploring the onset of symptoms and the signs to look for in every consultation.
- Avoiding diagnostic delays by looking for clues for early diagnosis.
- An overview of treatment options and why early identification of MLD is so important to 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 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 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.