Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

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, second...

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Bibliographic Details
Published in:Pediatric neurology 2009-07, Vol.41 (1), p.27-33
Main Authors: Werner, Klaus G.E., MD, PhD, Morel, Chantal F., MD, Kirton, Adam, MD, Benseler, Susanne M., MD, Shoffner, John M., MD, Addis, Jane B.L., BSc, Robinson, Brian H., PhD, Burrowes, Delilah M., MD, Blaser, Susan I., MD, Epstein, Leon G., MD, Feigenbaum, Annette S.J., MD
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Brain - metabolism
Brain - pathology
Cervical Vertebrae
Child
Cytochromes b - genetics
Diagnosis, Differential
Diseases of striated muscles. Neuromuscular diseases
DNA Mutational Analysis
DNA, Mitochondrial
Electron Transport Complex I - genetics
Female
Humans
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Medical sciences
Mitochondria, Muscle - genetics
Mitochondrial Encephalomyopathies - diagnosis
Mitochondrial Encephalomyopathies - genetics
Mitochondrial Encephalomyopathies - pathology
Muscle, Skeletal - pathology
Mutation
Neurology
Pediatrics
RNA, Ribosomal - genetics
Spinal Cord - pathology
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Summary: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.
ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2009.02.010