RT Journal Article
SR Electronic
T1 Proton MR Spectroscopy of Mitochondrial Diseases: Analysis of Brain Metabolic Abnormalities and Their Possible Diagnostic Relevance
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1958
OP 1966
VO 24
IS 10
A1 M. Cristina Bianchi
A1 Michela Tosetti
A1 Roberta Battini
A1 Maria L. Manca
A1 Michelangelo Mancuso
A1 Giovanni Cioni
A1 Raffaello Canapicchi
A1 Gabriele Siciliano
YR 2003
UL http://www.ajnr.org/content/24/10/1958.abstract
AB 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.