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Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy
  1. F Sedel1,2,
  2. G Challe3,
  3. J-M Mayer1,
  4. A Boutron6,
  5. B Fontaine1,4,
  6. J M Saudubray5,
  7. M Brivet6
  1. 1
    Federation of Nervous System Diseases, Hôpital de la Salpêtrière, Assistance Publique-Hôpitaux de Paris, France
  2. 2
    National Reference Centre for Lysosomal Diseases, Hôpital de la Salpêtrière, Assistance Publique-Hôpitaux de Paris, France
  3. 3
    Department of Ophthalmology and Department of Internal Medicine, Hôpital de la Salpêtrière, Assistance Publique-Hôpitaux de Paris, France
  4. 4
    Unité mixte de recherche INSERM U-546, Hôpital de la Salpêtrière and Université Pierre et Marie Curie (Paris VI), France
  5. 5
    National Reference Centre for Metabolic Diseases, Necker-enfants malades Hospital and Université René Descartes (Paris V), Assistance Publique-Hôpitaux de Paris, France
  6. 6
    Laboratoire de Biochimie, Hôpital Bicêtre, Le Kremlin-Bicêtre, Assistance Publique-Hôpitaux de Paris, France
  1. Dr F Sedel, Fédération des Maladies du Système Nerveux, Groupe Hospitalier Pitié-Salpêtrière, 47 Boulevard de l’Hôpital, 75651 Paris cedex 13, France; frederic.sedel{at}psl.aphp.fr

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Pyruvate dehydrogenase complex (PDHc) is a thiamine dependent key enzyme for energy production which catalyses decarboxylation of pyruvate into acetyl CoA for the Krebs cycle.1 PDHc deficiency is generally (80%) caused by mutations in the E1α subunit gene, PDHA1, located on chromosome Xp22.1, but other genes have been reported to be mutated (eg, PDHX, encoding the E3 binding protein, DLAT, encoding the E2 subunit PDHX, and PDHB, encoding the E1 beta subunit). The disease usually presents with lactic acidosis, psychomotor retardation and Leigh syndrome leading to death or severe handicap in infancy or childhood.1 Mild forms, compatible with surviving into adulthood, have rarely been reported.

CASE REPORT

A 26-year-old man was born at 8 months’ gestation, following maternal eclampsia. His psychomotor development was normal. From the age of 2 years he suffered from paroxysmal walking difficulties that appeared exclusively during fever episodes. These “crises” lasted from several hours to days during which he experienced limb weakness and ataxia. One episode was remarkable for blurring of consciousness and another for external ophthalmoplegia. Episodes persisted until adulthood at a frequency of approximately 1 per year. In between crises, the patient had kyphoscoliosis, absent tendon reflexes, pes cavus and mild …

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