Coenzyme Q– responsive Leigh's encephalopathy in two sisters
Corresponding Author
Lionel Van Maldergem MD
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, BelgiumSearch for more papers by this authorFrans Trijbels PhD
Center for Mitochondrial Disorders, Clinical Genetics Center, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorSalvatore DiMauro MD
Columbia University College of Physicians and Surgeons, Department of Neurology H. Houston Merritt Clinical Research Center, New York, NY
Search for more papers by this authorPavel J. Sindelar PhD
Department of Biochemistry and Biophysics, Stockholm University, Stockholm, Sweden
Search for more papers by this authorOlimpia Musumeci MD
Columbia University College of Physicians and Surgeons, Department of Neurology H. Houston Merritt Clinical Research Center, New York, NY
Search for more papers by this authorAntoon Janssen MD
Center for Mitochondrial Disorders, Clinical Genetics Center, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorXavier Delberghe MD
Institut Medico-Pedagogique Montfort, Herseaux, Belgium
Search for more papers by this authorJean-Jacques Martin MD, PhD
Department of Neuropathology, Born-Bunge Foundation, University of Antwerp, Antwerp, Edegem, Belgium
Search for more papers by this authorYves Gillerot MD, PhD
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
Search for more papers by this authorCorresponding Author
Lionel Van Maldergem MD
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, BelgiumSearch for more papers by this authorFrans Trijbels PhD
Center for Mitochondrial Disorders, Clinical Genetics Center, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorSalvatore DiMauro MD
Columbia University College of Physicians and Surgeons, Department of Neurology H. Houston Merritt Clinical Research Center, New York, NY
Search for more papers by this authorPavel J. Sindelar PhD
Department of Biochemistry and Biophysics, Stockholm University, Stockholm, Sweden
Search for more papers by this authorOlimpia Musumeci MD
Columbia University College of Physicians and Surgeons, Department of Neurology H. Houston Merritt Clinical Research Center, New York, NY
Search for more papers by this authorAntoon Janssen MD
Center for Mitochondrial Disorders, Clinical Genetics Center, University of Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorXavier Delberghe MD
Institut Medico-Pedagogique Montfort, Herseaux, Belgium
Search for more papers by this authorJean-Jacques Martin MD, PhD
Department of Neuropathology, Born-Bunge Foundation, University of Antwerp, Antwerp, Edegem, Belgium
Search for more papers by this authorYves Gillerot MD, PhD
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
Search for more papers by this authorAbstract
A 31-year-old woman had encephalopathy, growth retardation, infantilism, ataxia, deafness, lactic acidosis, and increased signals of caudate and putamen on brain magnetic resonance imaging. Muscle biochemistry showed succinate:cytochrome c oxidoreductase (complex II–III) deficiency. Both clinical and biochemical abnormalities improved remarkably with coenzyme Q10 supplementation. Clinically, when taking 300mg coenzyme Q10 per day, she resumed walking, gained weight, underwent puberty, and grew 20cm between 24 and 29 years of age. Coenzyme Q10 was markedly decreased in cerebrospinal fluid, muscle, lymphoblasts, and fibroblasts, suggesting the diagnosis of primary coenzyme Q10 deficiency. An older sister has similar clinical course and biochemical abnormalities. These findings suggest that coenzyme Q10 deficiency can present as adult Leigh's syndrome. Ann Neurol 2002;52:000–000
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