title: Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes.
abstract: Experienced clinicians recognize that some children who appear to have static cerebral palsy (CP) actually have underlying genetic-metabolic disorders. We report a series of patients with motor disorders seen in children with extrapyramidal CP in whom brain magnetic resonance imaging abnormalities provided important diagnostic clues in distinguishing genetic-metabolic disorders from other causes. One cause of static extrapyramidal CP, hypoxic-ischemic encephalopathy at the end of a term gestation, produces a characteristic pattern of hyperintense signal and atrophy in the putamen and thalamus. Other signal abnormalities and atrophy in the putamen, globus pallidus, or caudate can point to genetic-metabolic diseases, including disorders of mitochondrial and organic acid metabolism. Progress in understanding and treating genetic diseases of the developing brain makes it essential to diagnose disorders that masquerade as static CP. Brain magnetic resonance imaging is a useful diagnostic tool in the initial evaluation of children who appear to have CP.
authors.affiliation: Department of Developmental Pediatrics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
authors.forename: A H
authors.initials: AH
authors.lastname: Hoon
authors.forename: E M
authors.initials: EM
authors.lastname: Reinhardt
authors.forename: R I
authors.initials: RI
authors.lastname: Kelley
authors.forename: S N
authors.initials: SN
authors.lastname: Breiter
authors.forename: D H
authors.initials: DH
authors.lastname: Morton
authors.forename: S B
authors.initials: SB
authors.lastname: Naidu
authors.forename: M V
authors.initials: MV
authors.lastname: Johnston
mesh_terms: D000140:Acidosis, Lactic / Q000175:diagnosis; D001284:Atrophy; D001480:Basal Ganglia Diseases / Q000175:diagnosis*; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D002545:Brain Ischemia / Q000175:diagnosis; D002421:Caudate Nucleus / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002547:Cerebral Palsy / Q000175:diagnosis*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis; D002534:Hypoxia, Brain / Q000175:diagnosis; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis; D009069:Movement Disorders / Q000175:diagnosis; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis; D011699:Putamen / Q000473:pathology; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000175:diagnosis; D013788:Thalamus / Q000473:pathology