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Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion

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Abstract

Objects

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.

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Authors and Affiliations

  1. Neuroradiology Department, Mãe de Deus Center, Hospital Mãe de Deus, Porto Alegre, RS, Brazil

    Leonardo Vedolin, Rogério Schwark & Bianca Lopes

  2. Medical Genetics Service, Hospital de Clínicas, Porto Alegre, Brazil

    Carolina Fischinger Moura de Souza, Leticia Saldanha Laybauer, Maria Luiza Saraiva Pereira & Roberto Giugliani

  3. Genetics Department, Federal University of Rio Grande do Sul, Porto Alegre, Brazil

    Carolina Fischinger Moura de Souza & Roberto Giugliani

  4. Biochemistry Department, Federal University of Rio Grande do Sul, Porto Alegre, Brazil

    Maria Luiza Saraiva Pereira

Authors
  1. Leonardo Vedolin
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  2. Carolina Fischinger Moura de Souza
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  3. Rogério Schwark
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  4. Bianca Lopes
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  5. Leticia Saldanha Laybauer
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  6. Maria Luiza Saraiva Pereira
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  7. Roberto Giugliani
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Corresponding author

Correspondence to Leonardo Vedolin.

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Vedolin, L., Moura de Souza, C., Schwark, R. et al. Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion. Childs Nerv Syst 22, 1355–1359 (2006). https://doi.org/10.1007/s00381-006-0082-y

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  • DOI: https://doi.org/10.1007/s00381-006-0082-y

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