Year: 2011
Type: review
Study design: Systematic Review
Abstract: Multiple sclerosis (MS) is a neurodegenerative disease with highly variable phenotypic expression and neuroradiological findings, which can lead to making an accurate diagnosis difficult at times.The monogenic disease differential diagnosis list has not been extensively reviewed in over fifteen years.The purpose of this research was to identify monogenic diseases that can masquerade as MS in order to create tools to aid clinicians in the differential diagnostic process.A systematic literature review was performed using PubMed and CINAHL databases.From this review, a total of twenty-two monogenic diseases were identified and examined for similarities and differences with MS.Analyses of the data generated four tables: 1) comparison of clinical similarities, 2) clinical differences from MS, 3) common MRI findings, and 4) additional screening and testing options.Knowledge of these rare diseases is important for avoiding diagnostic mistakes and use of inappropriate treatment approaches.
Author: Meghan J. Marino
Institution: Case Western Reserve University
Language: English
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2600416771