Werner KG, Morel CF, Kirton A, Benseler SM, Shoffner JM,
Addis JB, Robinson BH, Burrowes DM, Blaser SI, Epstein LG, Feigenbaum AS.
Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations. Pediatr Neurol.
2009 Jul;41(1):27-33.
Abstract
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.
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