title: Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.
abstract: Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis.
authors: 1 Division of Clinical Genetics and Metabolism, Department of Paediatrics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA 2 Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, Colorado 80045, USA 3 Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA james.weisfeld-adams@childrenscolorado.org.
authors: James D
authors: JD
authors: Weisfeld-Adams
authors: 4 Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
authors: Ilana B
authors: IB
authors: Katz Sand
authors: 5 Department of Radiology, University of Colorado School of Medicine, Aurora, Colorado 80045, USA.
authors: Justin M
authors: JM
authors: Honce
authors: 4 Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
authors: Fred D
authors: FD
authors: Lublin
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D028361:Mitochondrial Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D009103:Multiple Sclerosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
keywords: inherited disease; misdiagnosis; mitochondrial disease; multiple sclerosis
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