Proton MR Spectroscopy of Mitochondrial Diseases: Analysis of Brain Metabolic Abnormalities and Their Possible Diagnostic Relevance

M. Cristina Bianchi, Michela Tosetti, Roberta Battini, Maria L. Manca, Michelangelo Mancuso, Giovanni Cioni, Raffaello Canapicchi, Gabriele Siciliano

Research output: Contribution to journalArticlepeer-review

Abstract

BACKGROUND AND PURPOSE: Proton (hydrogen-1 [1H]) MR spectroscopy is a useful diagnostic tool in many metabolic diseases, but only scattered and inconclusive data are available on mitochondrial diseases. We performed MR imaging and 1H MR spectroscopy of the brain in patients with different types of primary mitochondrial diseases to investigate the role of 1H MR spectroscopy in the clinical evaluation of these disorders. METHODS: In 15 patients (11 adults, four children) with mitochondrial diseases, localized MR spectra were obtained at short TEs in cerebellar white matter, paratrigonal white matter, and parieto-occipital cortex that appeared normal on MR images. Additional spectra of basal ganglia and cortical gray matter structural lesions were obtained in three patients. RESULTS: A significant choline reduction and N-acetylaspartate reduction were found in areas that appeared normal on MR images. Lactate was never found in areas that appeared normal on MR images, except in two children in whom MR studies were performed during episodes of symptom exacerbation and revealed elevated lactate both in areas that appeared damaged on MR images and in normal-appearing areas. An additional abnormal signal at 0.9 ppm was found in a consistent number of studies. CONCLUSION: 1H MR spectroscopy proved to be a useful investigational tool for mitochondrial diseases, as it enabled detection of metabolic abnormalities even in areas of brain that appeared normal on MR images, especially when it was performed during episodes of clinical relapses or clinical exacerbation.

Original languageEnglish
Pages (from-to)1958-1966
Number of pages9
JournalAmerican Journal of Neuroradiology
Volume24
Issue number10
Publication statusPublished - Nov 2003

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

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