Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion.
OBJECTIVE
The objectives were to present magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) findings in three patients with deletion on mitochondrial DNA (mtDNA) and nonclassical mitochondrial disorders (NCMD), correlating these findings with the percentage of deleted mtDNA.


RESULTS
Our study confirms the high prevalence of white matter (WM), basal ganglia, and posterior fossa lesions in NCMD, ranging from mild to severe involvement. The subcortical WM, caudate, thalamus, globus pallidus, and dorsal brain stem were more frequently affected. A lactate peak was the most frequent finding at the MRS. We found a correlation between the percentage of mtDNA deletion and degree of MRS abnormalities.


CONCLUSIONS
Our findings showed that MRS is a useful investigational tool in patients with NCMD. Supplementary studies are necessary to elucidate the correlation of quantitative mtDNA deletion and neuroimaging phenotype.
Vedolin
Leonardo
L
Neuroradiology Department, Mãe de Deus Center, Hospital Mãe de Deus, Porto Alegre, RS, Brazil. leonardovedolin@hotmail.com
de Souza
Carolina Fischinger Moura
CF
Silveira
Rogério Schwark
RS
Lopes
Bianca Cunha
BC
Laybauer
Leticia Saldanha
LS
Saraiva Pereira
Maria Luiza
ML
Giugliani
Roberto
R
D000293:Adolescent; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology*
D004272:DNA, Mitochondrial