Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions.
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.
Lehnhardt
Fritz-Georg
FG
Department of Neurology, University of Cologne, Köln, Germany.
Horvath
Rita
R
Ullrich
Roland
R
Kracht
Lutz
L
Sobesky
Jan
J
Möller-Hartmann
Walter
W
Jacobs
Andreas H
AH
Haupt
Walter F
WF
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
D004272:DNA, Mitochondrial; D011522:Protons; D005947:Glucose