title: A diagnostic approach for cerebral palsy in the genomic era.
abstract: An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as cerebral palsy (CP). To help distinguish patients in these two groups, conventional magnetic resonance imaging of the brain has been of great benefit in "unmasking" many of these genetic etiologies and has provided important clues to differential diagnosis in others. Recent advances in molecular genetics such as chromosomal microarray and next-generation sequencing have further revolutionized the understanding of etiology by more precisely classifying these disorders with a molecular cause. In this paper, we present a review of neurogenetic disorders masquerading as cerebral palsy evaluated at one institution. We have included representative case examples children presenting with dyskinetic, spastic, and ataxic phenotypes, with the intent to highlight the time-honored approach of using clinical tools of history and examination to focus the subsequent etiologic search with advanced neuroimaging modalities and molecular genetic tools. A precise diagnosis of these masqueraders and their differentiation from CP is important in terms of therapy, prognosis, and family counseling. In summary, this review serves as a continued call to remain vigilant for current and other to-be-discovered neurogenetic masqueraders of cerebral palsy, thereby optimizing care for patients and their families.
authors.affiliation: Department of Pediatrics, Shriners Hospitals for Children - Honolulu, University of Hawaii, Honolulu, HI, USA.
authors.forename: Ryan W
authors.initials: RW
authors.lastname: Lee
authors.forename: Andrea
authors.initials: A
authors.lastname: Poretti
authors.forename: Julie S
authors.initials: JS
authors.lastname: Cohen
authors.forename: Eric
authors.initials: E
authors.lastname: Levey
authors.forename: Hilary
authors.initials: H
authors.lastname: Gwynn
authors.forename: Michael V
authors.initials: MV
authors.lastname: Johnston
authors.forename: Alexander H
authors.initials: AH
authors.lastname: Hoon
authors.forename: Ali
authors.initials: A
authors.lastname: Fatemi
mesh_terms: D000328:Adult; D001238:Asphyxia Neonatorum / Q000175:diagnosis / Q000235:genetics; D001720:Birth Injuries / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000196:embryology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics; D002465:Cell Movement; D002547:Cerebral Palsy / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D059472:Exome; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D055106:Genome-Wide Association Study; D023281:Genomics; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D002534:Hypoxia, Brain / Q000175:diagnosis / Q000235:genetics; D007231:Infant, Newborn; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D020140:Lysosomal Storage Diseases, Nervous System / Q000175:diagnosis / Q000235:genetics; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics; D025202:Molecular Diagnostic Techniques; D009069:Movement Disorders / Q000175:diagnosis / Q000235:genetics; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics; D018377:Neurotransmitter Agents / Q000378:metabolism; D020521:Stroke / Q000151:congenital / Q000175:diagnosis; D046888:Tissue Array Analysis
chemical_list: D018377:Neurotransmitter Agents