Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

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.

journal_name

Pediatr Neurol

journal_title

Pediatric neurology

authors

Werner KG,Morel CF,Kirton A,Benseler SM,Shoffner JM,Addis JB,Robinson BH,Burrowes DM,Blaser SI,Epstein LG,Feigenbaum AS

doi

10.1016/j.pediatrneurol.2009.02.010

subject

Has Abstract

pub_date

2009-07-01 00:00:00

pages

27-33

issue

1

eissn

0887-8994

issn

1873-5150

pii

S0887-8994(09)00084-8

journal_volume

41

pub_type

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