title: Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
abstract: BACKGROUND
  Pyruvate dehydrogenase (PDH) deficiency is a disorder of energy metabolism with variable clinical presentations, ranging from severe infantile lactic acidosis to milder chronic neurological disorders. The spectrum of clinical manifestations is continuously expanding.
  
  
  RESULTS
  We report on a 19-year-old intelligent female with PDH deficiency caused by a Leu216Ser mutation in PDHA1. She presented with recurrent hemidystonic attacks, triggered by prolonged walking or running, as the unique clinical manifestation that manifested since childhood. Laboratory workup and neuroimages were initially normal but bilateral globus pallidum involvement appeared later on brain MRI. Dystonia completely remitted after high doses of thiamine, remaining free of symptoms after 3 years of follow up. We reviewed the literature for similar observations.
  
  
  CONCLUSIONS
  Dystonia precipitated by exercise may be the only symptom of a PDH deficiency, and the hallmark of the disease as high serum lactate or bilateral striatal necrosis at neuroimaging may be absent. A high index of suspicion and follow up is necessary for diagnosis. The clinical presentation of this patient meets the criteria for a Paroxysmal Exercise induced Dystonia, leading us to add this entity as another potential etiology for this type of paroxysmal dyskinesia, which is besides a treatable condition that responds to thiamine supplementation.
authors.affiliation: Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile. Electronic address: ccastiglioni@clc.cl.
authors.forename: Claudia
authors.initials: C
authors.lastname: Castiglioni
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Verrigni
authors.affiliation: Dept. of Radiology, Clínica las Condes, Santiago, Chile.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Okuma
authors.affiliation: National Institute of Rehabilitation, INRPAC, Santiago, Chile.
authors.forename: Alejandra
authors.initials: A
authors.lastname: Diaz
authors.affiliation: Laboratory of Molecular Genetics and Oncology, Clínica las Condes, Santiago, Chile.
authors.forename: Karin
authors.initials: K
authors.lastname: Alvarez
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
authors.forename: Teresa
authors.initials: T
authors.lastname: Rizza
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
authors.forename: Rosalba
authors.initials: R
authors.lastname: Carrozzo
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.affiliation: Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile.
authors.forename: Marcelo
authors.initials: M
authors.lastname: Miranda
mesh_terms: D001921:Brain / Q000473:pathology; D019587:Dietary Supplements; D020821:Dystonic Disorders / Q000209:etiology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy*; D013831:Thiamine / Q000627:therapeutic use*; D055815:Young Adult
chemical_list: D013831:Thiamine
keywords: Brain MRS; Paroxysmal exercise-induced dystonia; Pyruvate dehydrogenase deficiency; Thiamine-responsive dystonia