title: Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions.
abstract: 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.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Department of Neurology at a university medical center.
  
  
  METHODS
  Two siblings with MNGIE-like disease with multiple mtDNA deletions.
  
  
  METHODS
  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.
authors.affiliation: Department of Neurology, University of Cologne, Köln, Germany.
authors.forename: Fritz-Georg
authors.initials: FG
authors.lastname: Lehnhardt
authors.forename: Rita
authors.initials: R
authors.lastname: Horvath
authors.forename: Roland
authors.initials: R
authors.lastname: Ullrich
authors.forename: Lutz
authors.initials: L
authors.lastname: Kracht
authors.forename: Jan
authors.initials: J
authors.lastname: Sobesky
authors.forename: Walter
authors.initials: W
authors.lastname: Möller-Hartmann
authors.forename: Andreas H
authors.initials: AH
authors.lastname: Jacobs
authors.forename: Walter F
authors.initials: WF
authors.lastname: Haupt
mesh_terms: D000328:Adult; D002540:Cerebral Cortex / Q000378:metabolism*; D004272:DNA, Mitochondrial / Q000235:genetics*; D017353:Gene Deletion; D005947:Glucose / Q000378:metabolism*; D044882:Glucose Metabolism Disorders / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology; D049268:Positron-Emission Tomography / Q000379:methods; D011522:Protons; D035781:Siblings
chemical_list: D004272:DNA, Mitochondrial; D011522:Protons; D005947:Glucose