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Pathogenesis, clinical features, and diagnosis of pediatric multiple sclerosis

Timothy E Lotze, MD
Section Editors
Marc C Patterson, MD, FRACP
Francisco Gonzalez-Scarano, MD
Deputy Editor
John F Dashe, MD, PhD


Multiple sclerosis (MS) is typically considered to be a disease of young adults. However, pediatric MS, defined as onset of MS before the age of 18, is increasingly recognized. This disorder was previously known as early onset MS (EOMS) or juvenile MS.

Since pediatric MS is rare, clinicians who see a child with recurrent episodes of acute neurologic symptoms and white matter lesions on magnetic resonance imaging (MRI) might initially consider a differential diagnosis that includes leukodystrophies, vasculopathies, sarcoidosis, lymphoma, mitochondrial defects, and other metabolic disorders, rather than MS. However, the calculated prevalence of pediatric MS (1.35 to 2.5 per 100,000 children) is in fact very similar to that of all forms of metachromatic leukodystrophy (2.5 per 100,000 births) [1].

Given the availability of disease-modifying therapies for MS and the impact on future prognosis, it is important to consider the possibility of pediatric MS in all children with white matter disease.

The presentations, diagnostic evaluations, treatments, and prognosis for children with MS may differ from those of the more common adult form, and have been the subject of relatively few studies. Nevertheless, research in pediatric MS may provide clues into the underlying genetic substrate and environmental events that trigger this disease in both children and adults.

This topic will discuss the pathogenesis, clinical features, diagnosis, and differential diagnosis of pediatric MS. The treatment and prognosis of pediatric MS is discussed separately. (See "Treatment and prognosis of pediatric multiple sclerosis".)


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Literature review current through: Sep 2016. | This topic last updated: Jul 13, 2016.
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