1. A diagnostic approach for cerebral palsy in the genomic era.
- Author
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Lee RW, Poretti A, Cohen JS, Levey E, Gwynn H, Johnston MV, Hoon AH, and Fatemi A
- Subjects
- Adult, Asphyxia Neonatorum diagnosis, Asphyxia Neonatorum genetics, Birth Injuries diagnosis, Birth Injuries genetics, Brain embryology, Brain Diseases, Metabolic diagnosis, Brain Diseases, Metabolic genetics, Cell Movement, Cerebral Palsy genetics, Child, Child, Preschool, Chromosome Disorders diagnosis, Chromosome Disorders genetics, Developmental Disabilities genetics, Diagnosis, Differential, Exome, Female, Genetic Diseases, Inborn genetics, Genome-Wide Association Study, Genomics, Globus Pallidus pathology, Humans, Hypoxia, Brain diagnosis, Hypoxia, Brain genetics, Infant, Newborn, Leukoencephalopathies diagnosis, Leukoencephalopathies genetics, Leukoencephalopathies metabolism, Lysosomal Storage Diseases, Nervous System diagnosis, Lysosomal Storage Diseases, Nervous System genetics, Male, Mitochondrial Diseases diagnosis, Mitochondrial Diseases genetics, Movement Disorders diagnosis, Movement Disorders genetics, Muscle Spasticity diagnosis, Muscle Spasticity genetics, Nervous System Diseases genetics, Neurotransmitter Agents metabolism, Stroke congenital, Stroke diagnosis, Tissue Array Analysis, Cerebral Palsy diagnosis, Developmental Disabilities diagnosis, Diagnostic Errors, Genetic Diseases, Inborn diagnosis, Molecular Diagnostic Techniques, Nervous System Diseases diagnosis
- 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.
- Published
- 2014
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