Neuropediatrics 2011; 42 - P078
DOI: 10.1055/s-0031-1274050

PDH deficiency: identification of a novel mutation in the PDHA1gene in twins with intermittent weakness, resembling Guillain-Barré syndrome

C Bußmann 1, U Kotzaeridou 1, J Pietz 1, M Bauer 2
  • 1Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg, Abteilung für Pädiatrische Neurologie, Heidelberg, Germany
  • 2Institut für Klinische Chemie und Molekulare Diagnostik, Klinikum der Stadt Ludwigshafen, Akadem. Lehrkrankenhaus der Universität Mainz, Ludwigshafen, Germany

We describe monozygotic twin brothers presenting at the age of three years with acute peripheral weakness initially resembling Guillain-Barré syndrome. The two boys presented simultaneously with identical clinical symptoms but with discordant intensity, in both cases following a febrile infection. They recovered completely after 2/6 months. Up to now at the age of six years no further crisis occurred. The twins were found to have pyruvate dehydrogenase (PDH) deficiency with markedly reduced activity of the pyruvate dehydrogenase complex in lymphocytes. Sequence analysis showed a novel C535G substitution in the X-linked gene of the PDHc E1a subunit leading an amino acid exchange leucine to valine at position 179 of the gene product.