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Altered Cerebral Glucose Metabolism in a Family With Clinical Features Resembling Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome in Association With Multiple Mitochondrial DNA Deletions
Fritz-Georg Lehnhardt, MD;
Rita Horvath, MD;
Roland Ullrich, MD;
Lutz Kracht, MD;
Jan Sobesky, PhD;
Walter Möller-Hartmann, PhD;
Andreas H. Jacobs, PhD;
Walter F. Haupt, PhD
Arch Neurol. 2008;65(3):407-411.
Objective To determine the involvement of cerebral metabolism in 2 siblings with mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE)–like disease with multiple mitochondrial DNA (mtDNA) deletions.
Design Case report.
Setting Department of Neurology at a university medical center.
Patients Two siblings with MNGIE-like disease with multiple mtDNA deletions.
Main Outcome Measures Clinical, biochemical, genetic, and imaging findings, including cerebral magnetic resonance imaging, proton magnetic resonance spectroscopy, and positron emission tomography with fluorine 18–labeled deoxyglucose (FDG-PET).
Results Genetic analysis of muscle DNA revealed multiple mtDNA deletions, while no mutations were detected in ECGF1, POLG1, ANT1, or Twinkle. Cerebral magnetic resonance imaging and proton magnetic resonance spectroscopy findings were unremarkable. Reduced regional glucose metabolism was found in a patchy and asymmetrical pattern predominantly in the frontotemporal region in both siblings by means of FDG-PET.
Conclusions The discrepancy between absence of clinical signs of cerebral involvement and the substantial impairment of glucose metabolism reflects a chronic subclinical encephalopathy. To our knowledge, the predominantly frontotemporal distribution has not been described previously in mitochondrial disorders.
Author Affiliations: Departments of Neurology (Drs Lehnhardt, Sobesky, Jacobs, and Haupt) and Radiology (Dr Möller-Hartmann), University of Cologne, and Max Planck Institute for Neurological Research (Drs Ullrich and Kracht), Cologne, and Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University of Munich, and Medical Genetic Center Munich, Munich (Dr Horvath), Germany.
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