Acquired Demyelinating Syndromes and Pediatric Multiple Sclerosis

Abstract

__Abstract__ Acquired inflammatory demyelinating diseases of the central nervous system (CNS) cause damage to myelin sheaths and typically result in white matter lesions due to inflammation, myelin loss and axonal pathology. Clinically, this may result in transient, relapsing or progressive neurological dysfunction. Multiple sclerosis (MS) is the most common disease within this spectrum. It typically affects adults between 20 and 40 years old. MS is generally assumed to be an autoimmune disease, of which the exact etiology remains unknown. Genetic, immunological and environmental factors each play a role in the pathophysiology of the disease.1 Several other immune-mediated demyelinating diseases of the CNS are known. These include Acquired Demyelinating Syndrome (ADS) of childhood, Neuromyelitis Optica (NMO), Acute Disseminated Encephalomyelitis (ADEM), Transverse Myelitis (TM) and Optic Neuritis (ON).2 3 All these acquired demyelinating syndromes are rare. In general, clinicians encounter several problems when faced with rare diseases: - diagnosis is more complex or may be delayed, because a clinician rarely encounters these diseases and thus may be inexperienced with or unaware of them - the disease course and future may be hard to predict because of lack of insight into pathogenesis - treatment is often based on expert-opinion instead of large randomized controlled trials, making it difficult to establish the optimal treatment and timing of treatment - research is challenged by the low number of patients. For patients, it is more challenging to find the right information or to find fellow sufferers of the same disease.4 This thesis focuses on pediatric ADS and MS, ADEM and NMO and describes the clinical features of these diseases. The goal of these studies is to find disease-specific characteristics that will improve early and accurate diagnosis