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.
Neuroradiology Department, Mãe de Deus Center, Hospital Mãe de Deus, Porto Alegre, RS, Brazil. leonardovedolin@hotmail.com
Leonardo
L
Vedolin
Carolina Fischinger Moura
CF
de Souza
Rogério Schwark
RS
Silveira
Bianca Cunha
BC
Lopes
Leticia Saldanha
LS
Laybauer
Maria Luiza
ML
Saraiva Pereira
Roberto
R
Giugliani
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