Leigh Syndrome Associated with a Deficiency of the Pyruvate Dehydrogenase Complex: Results of Treatment with a Ketogenic Diet

F. A. Wijburg; P. G. Barth; L. A. Bindoff; M. A. Birch-Machin; J. F. van der Blij; W. Ruitenbeek; D. M. Turnbull; R. B. H. Schutgens

doi:10.1055/s-2008-1071331

Neuropediatrics 1992; 23(3): 147-152
DOI: 10.1055/s-2008-1071331

Original article

Leigh Syndrome Associated with a Deficiency of the Pyruvate Dehydrogenase Complex: Results of Treatment with a Ketogenic Diet

F. A. Wijburg¹ , P. G. Barth¹ , L. A. Bindoff² , M. A. Birch-Machin² , J. F. van der Blij³ , W. Ruitenbeek⁴ , D. M. Turnbull² , R. B. H. Schutgens¹

¹Department of Pediatrics, University Hospital Amsterdam (AMC), Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
²Division of Clinical Neuroscience, University of Newcastle upon Tyne, Newcastle upon Tyne, U.K.
³Department of Pediatrics, Medical Centre Alkmaar, Alkmaar, The Netherlands
⁴Department of Pediatrics, University of Nijmegen, Nijmegen, The Netherlands

Abstract

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Abstract

A one-year-old boy suffering from intermittent lactic acidosis, muscular hypotonia, horizontal gaze paralysis and spasticity in both legs had low activity of the pyruvate dehydrogenase complex associated with low amounts of immunoreactive E1α and E1β. Leigh syndrome was diagnosed on the basis of the clinical and biochemical abnormalities and the typical lesions observed on MRI of the brain. Treatment with a ketogenic diet was associated with clinical and biochemical amelioration. A striking improvement of the cerebral lesions was observed by neuro-imaging.

Zusammenfassung

Bei einem 12 Monate alten Jungen mit intermittierender Laktatazidose, muskulärer Hypotonie und spastischer Parese der Beine fanden wir einen Mangel der E1α-und E1β-Subunits des Pyruvatdehydrogenasekomplexes. Diese klinischen und biochemischen Befunde sowie der Nachweis typischer Hirnläsionen im MRI führten zu der Diagnose Leigh-Syndrom. Die Behandlung mit einer ketogenen Diät führte zur klinischen Besserung und Normalisierung des Laktatwertes im Blut. Eine erstaunliche Rückbildung der Hirnläsionen wurde im MRI beobachtet.

Key words

Leigh syndrome - Lactic acidosis - Pyruvate dehydrogenase complex - Ketogenic diet

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