Primary progressive multiple sclerosis presenting under the age of 18 years: Fact or fiction?

Author:

Abdel-Mannan Omar1,Cortese Rosa2,Wassmer Evangeline3,Hemingway Cheryl4,Thompson Alan5,Brownlee Wallace2,Ciccarelli Olga6,Hacohen Yael1

Affiliation:

1. Department of Neuroinflammation, Queen Square Multiple Sclerosis Centre, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK/Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK

2. Department of Neuroinflammation, Queen Square Multiple Sclerosis Centre, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK

3. Department of Paediatric Neurology, Birmingham Children’s Hospital, Birmingham, UK

4. Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK

5. Department of Neuroinflammation, Queen Square Multiple Sclerosis Centre, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK/Department of Brain Repair and Rehabilitation, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK/NIHR UCLH Biomedical Research Centre, London, UK

6. Department of Neuroinflammation, Queen Square Multiple Sclerosis Centre, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK/NIHR UCLH Biomedical Research Centre, London, UK

Abstract

Previous cohort studies on paediatric multiple sclerosis (MS) have reported very low frequencies for a primary progressive MS (PPMS) course ranging from 0% to 7%. We identified six patients presenting prior to the age of 18 years and fulfilling the 2017 McDonald Criteria for PPMS. Presentation with progressive neurological symptoms and signs in young people should prompt evaluation for genetic causes such as leukodystrophies, hereditary spastic paraparesis and mitochondrial diseases given the rarity of primary progressive course in paediatric MS. In the absence of an alternative diagnosis, with new therapeutic options becoming available for PPMS, this diagnosis should then be considered.

Publisher

SAGE Publications

Subject

Neurology (clinical),Neurology

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