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Radiologically Isolated Syndrome

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The radiologically isolated syndrome (RIS) refers to the clinical scenario in which individuals with no symptoms of central nervous system demyelination undergo brain magnetic resonance imaging (MRI) for other reasons and have the typical neuroimaging findings of Multiple Sclerosis (MS).

Our lab is the lead site for the Pediatric Radiologically Isolated Syndrome Consortium (PARIS). The goals of this international collaborative group are:

  1. To conduct studies in risk stratification for the subsequent development of clinical MS after a diagnosis of pediatric-onset RIS. Risk factors of interest include:
    1. Genetic
    2. Environmental
    3. Serologic
  2. Prognostication for outcomes following pediatric-onset RIS
  3. Prospective studies aimed towards the development of formal diagnostic criteria for pediatric RIS

Our main finding thus far has been that a significant proportion of children with RIS subsequently develop clinical symptoms of MS within two years of the index MRI. Children with oligoclonal bands in their cerebrospinal fluid or spinal cord lesions on their index MRI, have been shown to be at greatest risk of subsequently developing the clinical symptoms of MS. The presence of oligoclonal bands may also increase the specificity of MS MRI criteria in children with pediatric RIS, suggesting the utility of a comprehensive evaluation.

Other Collaborative Studies

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Other ongoing collaborative projects include those related to acute transverse myelitis, acute flaccid myelitis and multiple sclerosis in children.

Acute transverse myelitis (ATM) is an inflammatory condition affecting the spinal cord that is typically associated with motor, sensory, and autonomic dysfunction. As a collaborating site in a multi-center study, our goals are to:

  1. Understand the natural history and clinical spectrum of transverse myelitis in children.
  2. Evaluate the effect of medical intervention on serologic, radiological, and clinical outcomes and the long-term tolerability and side effects of these therapies in children with transverse myelitis.

Acute flaccid myelitis (AFM) refers to inflammation of the anterior horn cells of the spinal cord that results in flaccid paralysis of various limbs and primarily affecting children. Motivated by our clinical experience treating children with acute flaccid myelitis, we are collaborators in studies to characterize the initial presentation of AFM and to identify factors that may contribute to either a delay in diagnosis or misdiagnosis. We are working with others towards the aim of providing a better framework to guide the practice of general pediatricians and neurologists who are often the first to see these patients.

Other projects related to neuromyelitis optica and multiple sclerosis in children are ongoing.