title: Infantile-onset paroxysmal dystonia: a diagnostic dilemma.
abstract: A 4-year-old boy presented with a history of paroxysmal dystonic posturing since birth. Episodes were triggered by stress, fatigue, and cold. Sleep, for as short as 1 minute, resulted in complete resolution of dystonia. He was developmentally normal, with no focal neurologic deficits. Cerebrospinal fluid, homovanillic acid (HVA), and 5-hydroxyindoleacetic acid (5-HIAA) were borderline low. On ictal spectroscopy, there was reduced blood flow to the right temporal region, caudate nuclei, and thalami. The typical infantile form of dystonia is benign, resolving by 2 years of age in an otherwise normal child. Our patient remains symptomatic at 4 years of age.
authors: Department of Neurology, The New Children's Hospital, Sydney, Australia. jaynea@nch.edu.au
authors: J M
authors: JM
authors: Wilmshurst
authors: R
authors: R
authors: Howman-Giles
authors: J
authors: J
authors: Antony
mesh_terms: D001921:Brain / Q000098:blood supply; D003241:Consanguinity; D004292:Dominance, Cerebral / Q000502:physiology; D004421:Dystonia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D008297:Male; D012039:Regional Blood Flow / Q000502:physiology
chemical_list: D006897:Hydroxyindoleacetic Acid; D006719:Homovanillic Acid