TY - JOUR
T1 - Proton MR Spectroscopy of Mitochondrial Diseases
T2 - Analysis of Brain Metabolic Abnormalities and Their Possible Diagnostic Relevance
AU - Bianchi, M. Cristina
AU - Tosetti, Michela
AU - Battini, Roberta
AU - Manca, Maria L.
AU - Mancuso, Michelangelo
AU - Cioni, Giovanni
AU - Canapicchi, Raffaello
AU - Siciliano, Gabriele
PY - 2003/11
Y1 - 2003/11
N2 - 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.
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.
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M3 - Article
C2 - 14625217
AN - SCOPUS:0345686508
VL - 24
SP - 1958
EP - 1966
JO - American Journal of Neuroradiology
JF - American Journal of Neuroradiology
SN - 0195-6108
IS - 10
ER -