We describe clinical, biochemical, pathological, and spectroscopic findings in 4 women, aged 15 to 29 years, from three unrelated families who had a unique combination of a central neurvous system ...white matter disease and primary ovarian failure. All had normal initial development but 3 had borderline low IQ and academic difficulties in primary school. Puberty did not develop in 2 patients and was arrested in a third patient. The fourth patient had premature ovarian failure at the age of 13 years. Head magnetic resonance imaging showed diffuse white matter disease, with frontal cortical atrophy in the most clinically advanced patient. All patients had normal karyotype and normal findings on extensive evaluations for known leukodystrophies, for other metabolic diseases, and for causes of ovarian failure. Proton magnetic resonance spectroscopic imaging showed reduction of choline‐containing compounds in the affected white matter in all patients and reduction of N‐acetylaspartate in the unaffected frontal white matter of 2 patients. All patients had evidence of primary gonadal insufficiency with a normal hypothalamic‐hypophyseal axis. Pathological analysis showed streak ovaries in 1 patient and signs of hypomyelination, and gliosis on brain biopsy in another patient. In conclusion, we present a novel group of patients who have in common leukodystrophy, primary ovarian dysfunction, and magnetic resonance spectroscopic abnormalities.
The diagnosis of Multiple Sclerosis (MS) is based on a careful evaluation of clinical history, on neurological exam and paraclinical tests aimed at identifying temporal and spatial dissemination of ...demyelinating lesions of the Central Nervous System; on the other side, it is mandatory to exclude any other possible disease able to better explain clinical symptoms. In 2001 diagnostic criteria revised in 2005 and more recently in 2010 have been elaborated to define clinical and paraclinical evidences necessary for the diagnosis of MS; instrumental exams include Magnetic Resonance Imaging (MRI), cerebrospinal fluid analysis and visual evoked potentials. MRI is necessary to demonstrate dissemination in time and space of demyelinating lesions.
Using proton magnetic resonance spectroscopic imaging, we studied the cerebellum of 9 patients with cerebellar degeneration and of 9 age‐matched normal control subjects. This technique permits the ...simultaneous measurement of N‐ acetylaspartate, choline‐containing compounds, creatine/phosphocreatine, and lactate signal intensities from four 15‐mm slices divided into 0.84‐ml single‐volume elements. Because patients with cerebellar degeneration often show substan‐ tial atrophy on magnetic resonance imaging (MRI), we specifically chose to analyze the spectroscopic signals only from tissue that did not have an atrophic appearance on the MRI. The spectroscopic findings showed a significant reduction of N‐acetylaspartate in all parts of the cerebellum, a significant correlation with MRI scores of cerebellar atrophy, and a significant correlation with clinical rating scores of cerebellar disturbance. Our method of analysis suggests the presence of a neurodegenerative process in cerebellar areas that do not appear to be atrophic on the MRI. Some limitations of proton magnetic resonance spectroscopic imaging in the present study were related to the partial field inhomogeneity characteristics of the posterior fossa, the anatomical location of the cerebellum, and the particularly severe cerebellar atrophy in some of the patients.
The impact of image segmentation on 0.84‐ml nominal voxel volume proton spectroscopic imaging in normal brain and in age‐related cortical atrophy was investigated. Segmentation improved the gray ...matter‐white matter (GM‐WM) contrast for N‐acetyl aspartate (NAA)/creatine (Cr) and choline (Cho)/Cr in normal brain, and for NAA/Cho and NAA/Cr in atrophic brain. NAAGM/WM (∼0.7), ChoGM/WM (∼0.8), and CrGM/WM (∼1.3) in normal brain obtained with segmentation agreed with values obtained with quantitative magnetic resonance spectroscopy. Age‐related cortical atrophy led to decreased cortical GM NAA/Cho and NAA/Cr; no changes were evident in WM or in NAAGM/WM, ChoGM/WM, or CrGM/WM. GM/WM metabolite analysis may be of limited use in conditions in which parallel metabolite changes occur in WM and GM. Magn Reson Med 41:841–845, 1999. Published 1999 Wiley‐Liss, Inc.
Isolated unilateral ptosis due to neurovascular conflict Piccirillo, Giovanni; Trojsi, Francesca; Conforti, Renata ...
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology,
04/2016, Letnik:
37, Številka:
4
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