title: Acute basal ganglia infarction in propionic acidemia.
abstract: An 8-year-old girl with propionic acidemia had acute and rapidly fatal symmetric necrosis of the caudate, globus pallidus, and putamen. Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness. There was no evidence of metabolic decompensation, and analysis of the organic acids of the urine indicated good metabolic control. Organic acids in the cerebrospinal fluid were unremarkable. These observations indicate that the pathophysiology of "metabolic stroke" is more complicated than previously thought.
authors.affiliation: Department of Neurosciences, University of California San Diego 92093-0935, USA.
authors.forename: R H
authors.initials: RH
authors.lastname: Haas
authors.forename: D L
authors.initials: DL
authors.lastname: Marsden
authors.forename: S
authors.initials: S
authors.lastname: Capistrano-Estrada
authors.forename: R
authors.initials: R
authors.lastname: Hamilton
authors.forename: M R
authors.initials: MR
authors.lastname: Grafe
authors.forename: W
authors.initials: W
authors.lastname: Wong
authors.forename: W L
authors.initials: WL
authors.lastname: Nyhan
mesh_terms: D017668:Age of Onset; D001037:Aphasia; D001479:Basal Ganglia / Q000098:blood supply*; D002421:Caudate Nucleus / Q000473:pathology; D002544:Cerebral Infarction / Q000097:blood* / Q000175:diagnosis / Q000473:pathology; D002648:Child; D017809:Fatal Outcome; D005260:Female; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D009123:Muscle Hypotonia; D009336:Necrosis / Q000473:pathology; D011422:Propionates / Q000097:blood*; D011699:Putamen / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: D011422:Propionates