Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review

European Journal of Paediatric Neurology

Volumn 19, Issue 5, 2015, Pages 497-503

  Castiglioni, Claudia ^a   Verrigni, Daniela ^b   Okuma, Cecilia ^a   Diaz, Alejandra ^c   Alvarez, Karin ^a   Rizza, Teresa ^b   Carrozzo, Rosalba ^b   Bertini, Enrico ^b   Miranda, Marcelo ^a  

^a CLÍNICA LAS CONDES   (Chile)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c INRPAC   (Chile)

Author keywords

Brain MRS; Paroxysmal exercise induced dystonia; Pyruvate dehydrogenase deficiency; Thiamine responsive dystonia

Indexed keywords

PYRUVATE DEHYDROGENASE; THIAMINE;

ADULT; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAM; EXON; FEMALE; FOLLOW UP; GLOBUS PALLIDUS; HEMIDYSTONIA; HUMAN; ISOLATED PAROXYSMAL EXERCISE INDUCED DYSTONIA; LABORATORY TEST; MISSENSE MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PAROXYSMAL DYSTONIA; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RUNNING; WALKING; WESTERN BLOTTING; YOUNG ADULT; BRAIN; COMPLICATION; DIET SUPPLEMENTATION; DYSTONIC DISORDERS; PATHOLOGY; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

BRAIN; DIETARY SUPPLEMENTS; DYSTONIC DISORDERS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; THIAMINE; YOUNG ADULT;

EID: 84938740674     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2015.04.008     Document Type: Review

References (20)

1. S.D. DeBrosse, K. Okajima, S. Zhang, and et al. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype Mol Genet Metab 107 2012 394 402
2. C. Barnerias, J.M. Saudubray, G. Touati, and et al. Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis Dev Med Child Neurol 52 2010 e1 9
3. H.M. Strassburg, J. Koch, J. Mayr, and et al. Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex Neuropediatrics 37 2006 137 141
4. R.A. Head, C.G. de Goede, R.W. Newton, and et al. Pyruvate dehydrogenase deficiency presenting as dystonia in childhood Dev Med Child Neurol 46 2004 710 712
5. R.A. Head, R.M. Brown, Z. Zolkipli, and et al. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamideacetyltransferase (E2) deficiency Ann Neurol 58 2005 234 241
6. R.T. Egel, G.E. Hoganson, M.A. Katerji, and et al. Zonisamide ameliorates symptoms of secondary paroxysmal dystonia Pediatr Neurol 43 2010 205 208
7. C.A. McWilliam, C.K. Ridout, R.M. Brown, and et al. Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia Eur J Paediatr Neurol 14 2010 349 353
8. M. Magner, K. Vinšová, M. Tesařová, and et al. Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene Prague Med Rep 112 2011 18 28
9. T. Rizza, M.E. Vazquez-Memije, M.C. Meschini, and et al. Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders Biochem Biophys Res Commun 383 2009 58 62
10. K.P. Bhatia Paroxysmal dyskinesias Mov Disord 26 2011 1157 1165
11. K.P. Bhatia, V.L. Soland, M.H. Bhatt, N.P. Quinn, and C.D. Marsden Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature Mov Disord 12 1997 1007 1012
12. R. Erro, U.M. Sheerin, and K.P. Bhatia Paroxysmal dyskinesias revisited A review of 500 genetically proven cases and a new classification Mov Disord 29 2014 1108 1116
13. A. Suls, P. Dedeken, K. Goffin, and et al. Paroxysmal exercise-induced dyskinesia andepilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 Brain 131 2008 1831 1844
14. S.A. Schneider, C. Paisan-Ruiz, I. Garcia-Gorostiaga, and et al. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias Mov Disord 24 2009 1684 1688
15. E. Naito, M. Ito, I. Yokota, and et al. Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region Biochim Biophys Acta 1588 2002 79 84
16. G.K. Brown, L.J. Otero, M. LeGris, and R.M. Brown Pyruvate dehydrogenase deficiency J Med Genet 31 1994 875 879
17. E.H. Lee, M.S. Ahn, J.S. Hwang, and et al. A Korean female patient with thiamine responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C) in the PDHA1 gene J Korean Med Sci 21 2006 800 804
18. K. Narisawa, H. Endo, S. Miyabayashi, and et al. Thiamine responsive pyruvate dehydrogenase deficiency J NutrSciVitaminol (Tokyo) 1992 Spec No: 585-588
19. G. Brown Defects of thiamine transport and metabolism J Inherit Metab Dis 37 2014 577 585
20. G. Giribaldi, L. Doria-Lamba, R. Biancheri, and et al. Intermittent-relapsing pyruvatedehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility Dev Med Child Neurol 54 2012 472 476