A differential diagnosis of central nervous system demyelination: beyond multiple sclerosis

Abstract

Although multiple sclerosis (MS) is the most common demyelinating disorder of the central nervous system (CNS), it lacks any definitive diagnostic test. Instead, diagnosis of MS primarily depends upon clinical criteria, supported by abnormalities characteristic of MS on para-clinical investigations including magnetic resonance imaging of the brain and spine, in the absence of an alternative explanation for underlying neurologic symptoms. While many of the potential disorders that may mimic MS in routine clinical practice are either extremely rare, or associated with specific and characteristic distinguishing diagnostic features, some inflammatory demyelinating disorders of the CNS may be particularly challenging to distinguish from MS, especially during initial presentation. In particular, acute disseminated encephalomyelitis, neuromyelitis optica, and idiopathic transverse myelitis may closely resemble MS, impeding prompt and accurate diagnosis. In this review, we describe the clinical features, diagnosis, pathology, and treatment of these other CNS demyelinating disorders. In addition, we review relevant features of other CNS inflammatory disorders that may mimic MS, including Sjögren's syndrome, systemic lupus erythematosus, Behçet's disease, and primary CNS vasculitis.

Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population

“…Although genes, the environment and their interactions play signifi cant roles in the pathogenesis of the disease, no clear etiology has been established yet [10] . As reported previously, the genetic component of MS susceptibility is complex and has been studied for several decades, and NMO is presumably a polygenetic condition, like MS.…”

“…However, NMO is relatively common in Asians but rare in Caucasians. We hypothesized that this difference may result from genetic factors [9,10] . To date, little is known about the genetic factors that may distinguish NMO from MS.…”

Longitudinally extensive transverse myelitis suspected for isolated Neuro-Behçet: A diagnostic conundrum

“…Clinical suspicion of NBD should be heightened in the presence of systemic findings suggestive of the disorder (Trebst et al, 2011;Eckstein et al, 2012); however, as our patient illustrates, the clinical features of BD may be absent at the time of presentation. Establishing the diagnosis early may permit the initiation of effective therapies.…”

Nervous system involvement of connective tissue disease

“…Other potential underlying mechanisms of NPSLE include cerebral and spinal demyelinating white matter lesions comparable to those found in MS [28]. Another consistent finding is cortical brain atrophy in chronic SLE [29].…”