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Neurology 2002;59:926-929
© 2002 American Academy of Neurology
Brief Communications

Multiple mtDNA deletions with features of MNGIE

J. Vissing, MD PhD, K. Ravn, MSc, E.R. Danielsen, PhD, M. Dunø, PhD, F. Wibrand, PhD, R.A. Wevers, PhD and M. Schwartz, PhD

From the Department of Neurology and the Copenhagen Muscle Research Center (Dr. Vissing), and the Department of Clinical Genetics (K. Ravn and Drs. Dunø and Schwartz), and the Department of Neuroradiology (Dr. Danielsen), National University Hospital, Rigshospitalet, Copenhagen; John F. Kennedy Institute (Dr. Wibrand), Glostrup, Denmark; and Institute of Neurology (Dr. Wevers), University Medical Center, Nijmegen, Holland.

Address correspondence and reprint requests to Dr. John Vissing, Director, Neuromuscular Clinic, Department of Neurology 2082, National University Hospital, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark; e-mail: vissing{at}rh.dk

Two sisters developed gastrointestinal malabsorption with pain and unsteady gait due to polyneuropathy at age 15. Both had ophthalmoplegia, neurogenic EMG, and COX-negative muscle fibers. One patient had low muscle complex I–IV activity, multiple mtDNA deletions, and depletion, but no thymidine phosphorylase (TP) or dNT-2 gene mutations. TP activity and brain MRI were normal. The condition resembles mitochondrial neurogastrointestinal encephalomyopathy, except for the absence of leukoencephalopathy, and is likely caused by a nuclear DNA mutation that disrupts intergenomic signaling.




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