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, 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.
Werner
Klaus G E
KG
Division of Neurology and Pediatric Emergency Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
Morel
Chantal F
CF
Kirton
Adam
A
Benseler
Susanne M
SM
Shoffner
John M
JM
Addis
Jane B L
JB
Robinson
Brian H
BH
Burrowes
Delilah M
DM
Blaser
Susan I
SI
Epstein
Leon G
LG
Feigenbaum
Annette S J
AS
D000293:Adolescent; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002574:Cervical Vertebrae; D002648:Child; D045303:Cytochromes b / Q000235:genetics; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial; D003937:Diagnosis, Differential; D042967:Electron Transport Complex I / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008931:Mitochondria, Muscle / Q000235:genetics; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D012335:RNA, Ribosomal / Q000235:genetics; D013116:Spinal Cord / Q000473:pathology
D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D045303:Cytochromes b; D042967:Electron Transport Complex I; C114961:MT-ND3 protein, human