1.
Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
Ethofer, T, Seeger, U, Klose, U, Erb, M, Kardatzki, B, Kraft, E, Landwehrmeyer, GB, Grodd, W, Storch, A
Neurology. 2004;(6):1016-8
Abstract
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare hereditary disorder of the CNS catabolism of gamma-aminobutyric acid (GABA), leading to accumulation of the metabolite 4-hydroxybutyrate (GHB). Here the authors report on 1.5 and 3.0 T proton MR spectroscopy in a patient with SSADH deficiency. A characteristic pattern with clearly elevated GABA levels and traces of GHB was found in both the white and the gray matter of the brain. In vivo spectroscopy may be useful for diagnosis and monitoring SSADH deficiency.
2.
Magnetic resonance spectroscopy in pediatric neurology.
Gulati, S, Shah, T, Menon, S, Jayasundar, R, Kalra, V
Indian journal of pediatrics. 2003;(4):317-25
Abstract
In the last three decades a range of non-invasive biophysical techniques have been developed, of which Magnetic Resonance (MR) has proved to be the most versatile. Its non-invasive and safe nature has made it the most important diagnostic and research tool in clinical medicine. MR Spectroscopy (MRS) is the only technique in clinical medicine that provides non-invasive access to living chemistry in situ. This article focuses mainly on proton MRS in brain and also phosphorus MRS in calf muscle, with particular reference to the pediatric population, the normal spectrum and its use in various disease conditions in the practice of pediatric neurology. Few representative case studies among different disease groups have also been detailed.
3.
Proton MR spectroscopy in Rett syndrome.
Gökcay, A, Kitis, O, Ekmekci, O, Karasoy, H, Sener, RN
Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society. 2002;(4):271-5
Abstract
Seven patients (mean age 7.7yr) with Rett syndrome, a condition with progressive regression of psychomotor development are included in this study. Proton MR spectroscopy images were obtained with the multivoxel chemical-shift imaging mode (TR=1500ms, TE=40ms). Spectra from 224 voxels in the brain parenchyma were studied. N-acetyl aspartate (NAA), creatine (Cr), choline (Cho), and myoinositol (mI) peaks were quantitatively evaluated, and NAA/Cr, NAA/Cho, and Cho/Cr, mI/Cr ratios were calculated. Five age-matched normal cases were available as controls. In three patients with Rett syndrome spectroscopy findings were normal, and the metabolite ratios were similar to control cases. In the remaining four patients with the syndrome prominent decrease of the NAA peak was the main finding resulting in decreases in NAA/Cr (1.14+/-17), and NAA/Cho (1.08+/-27) ratios (p<0.0001). Cho/Cr ratios (0.93+/-26), and mI/Cr ratios (0.88+/-36) were normal compared to controls. There was no correlation between spectroscopic changes and clinical status of the patients. The findings suggested that not only reduced neuronal-dendritic arborizations but also decreased neuronal function could contribute to spectroscopy changes in Rett syndrome.