Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

Werner, Klaus G.E.; Morel, Chantal F.; Kirton, Adam; Benseler, Susanne M.; Shoffner, John M.; Addis, Jane B.L.; Robinson, Brian H.; Burrowes, Delilah M.; Blaser, Susan I.; Epstein, Leon G.; Feigenbaum, Annette S.J.

doi:10.1016/j.pediatrneurol.2009.02.010

« Previous Next »Pediatric Neurology
Volume 41, Issue 1 , Pages 27-33, July 2009

Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

Klaus G.E. Werner, MD, PhD
- Division of Neurology and Pediatric Emergency Medicine, Hospital for Sick Children, Toronto, Ontario, Canada
- Both authors contributed equally to this work.
Chantal F. Morel, MD
- Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
- Both authors contributed equally to this work.
Adam Kirton, MD
- Division of Neurology, Alberta Children's Hospital, Calgary, Alberta, Canada
Susanne M. Benseler, MD
- Division of Rheumatology and Pediatric Emergency Medicine, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
John M. Shoffner, MD
- Medical Neurogenetics, Atlanta, Georgia
Jane B.L. Addis, BSc
- Metabolism Research Program, Research Institute, Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada
Brian H. Robinson, PhD
- Metabolism Research Program, Research Institute, Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada
Delilah M. Burrowes, MD
- Department of Radiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois
Susan I. Blaser, MD
- Department of Diagnostic Imaging, Division of Neuroradiology, Hospital for Sick Children, Toronto, Ontario, Canada
Leon G. Epstein, MD
- Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois
Annette S.J. Feigenbaum, MD
- Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
- Communications should be addressed to: Dr. Feigenbaum; Division of Clinical and Metabolic Genetics; The Hospital for Sick Children; 555 University Avenue; Toronto, Ontario M5G 1X8, Canada.

Received 27 August 2008; accepted 16 February 2009.

Mitochondrial encephalopathies may be caused by mutations in the respiratory chain complex I subunit genes. Described here are the cases of two pediatric patients who presented with MELAS-like calcarine lesions in addition to novel, bilateral rolandic lesions and epilepsia partialis continua, secondary to MT-ND3 mutations. Data were collected included neurologic symptoms, serial brain imaging, metabolic evaluations, skeletal muscle biopsies, mitochondrial biochemical and molecular testing. Permission for publication was given by the families. Muscle histology revealed nonspecific changes, with no ragged red or blue or COX-negative fibers. Sequencing of the mitochondrial DNA indicated patient 2 to be homoplasmic in muscle for the mt.10158T>C mutation in the ND3 subunit and Patient 1 to be 75% heteroplasmic for the mt.10191T>C mutation, also in ND3. Bilateral rolandic lesions and epilepsia partialis continua accompanied by suspicion of mitochondrial disease are indications to search for an underlying mutation in the MT-ND3 gene.