1/16. tay-sachs disease: progression of changes on neuroimaging in four cases.The neuroradiological findings in four patients with tay-sachs disease are described in three phases of the clinical course. The basal ganglia and cerebral white matter show low density on computed tomography and high signal intensity on T2-weighted magnetic resonance imaging in the initial phase. The caudate nuclei are characteristically enlarged and protrude into the lateral ventricles in the first and second phases. The cerebral white matter shows low density on the CT which varies in extent from the second to third phases, and the whole brain becomes atrophic in the last phase. Thus, central nervous system involvement in the disease may begin in basal ganglia as well as in cerebral white matter.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/16. MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/16. Methyl bromide intoxication causes reversible symmetric brainstem and cerebellar MRI lesions.Methyl bromide is toxic to the central and peripheral nervous systems. A patient with occupational exposure to this agent is described. MRI showed strikingly symmetric brainstem and cerebellar lesions. The patient's clinical course and the topography and resolution of his MRI abnormalities suggest that this condition is an energy deprivation syndrome.- - - - - - - - - - ranking = 0.33649820654245keywords = nervous system (Clic here for more details about this article) |
4/16. Biochemical heterogeneity of infantile central nervous system spongy degeneration.Aspartoacylase, the enzyme whose activity is deficient in infantile central nervous system spongy degeneration (Canavan-Van Bogaert-Bertrand disease), is detected as an approximately 59-kD protein in the Sephadex G-200 filtration of normal fibroblast extracts. The enzyme activity in homogenates of fibroblasts is protected by leupeptin, a protease inhibitor. In the absence of leupeptin, 90% of aspartoacylase activity is lost. In some patients with infantile spongy degeneration, no activity (less than 2%) can be detected. In some other patients with residual activity in fibroblasts, two separate peaks of enzyme are eluted with molecular weight corresponding to approximately 59 and 19 kD. Aspartoacylase activity in this latter group is protected to the same extent by the presence of leupeptin. However, the elution of two peaks is independent of the presence of leupeptin. This study indicates biochemical heterogeneity in the pathogenesis of infantile spongy degeneration.- - - - - - - - - - ranking = 5keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/16. Chronic relapsing course of encephalomyeloradiculopathy in a 6-year-old boy.We present a young child with an illness characterized by remissions and exacerbations and signs of disseminated lesions in the central nervous system. Visual evoked response and brainstem auditory evoked potential gave abnormal findings showing lesions also of the optic nerves and brainstem. The CSF IgG index was slightly elevated and myelin basic protein was high. There was also intrathecal antibody production against different viruses, the highest against measles. The HLA type was A3, B7, Dr2. The T4/T8 ratio reflected an immunological active disease. All these signs could have been diagnosed as multiple sclerosis. However, there were also lower motoneuron lesions and metabolic studies showed disturbances in pyruvate metabolism as in Leigh's disease. Cerebral tomography and magnetic resonance imaging showed scattered lesions in the nuclei lentiformis and capsula interna. We would like to stress the importance of careful etiological studies in cases of MS in childhood.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/16. Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.An autopsy case of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency is presented. A 15-year-old boy had mental retardation, epilepsy, and peripheral neuropathy. A sural nerve biopsy revealed a decreased number of myelinated fibers, abnormally thick myelinated fiber groups, and numerous thinner unmyelinated fibers. The autopsy study revealed unusual findings of peripheral neuropathy and spheroid formation in addition to arterial structural abnormalities and perivascular demyelination which are common in cases of homocystinuria. The peripheral neuropathy and spheroid formation may be related to the low level of serum folic acid. The presence of peripheral neuropathy should be ascertained in cases of 5,10-methylenetetrahydrofolate reductase deficiency.- - - - - - - - - - ranking = 1.3459928261698keywords = nervous system (Clic here for more details about this article) |
7/16. Mitochondrial encephalomyopathy. association with an nadh dehydrogenase deficiency.A 17-year-old patient had a progressive hypokinetic-rigid syndrome and several other signs and symptoms that indicated central nervous system involvement. Biochemical studies revealed a reduced form of nicotinamide-adenine dinucleotide dehydrogenase deficiency in skeletal muscle. Clinical signs and symptoms, and their association with an established defect of energy metabolism, led us to classify this disorder as a mitochondrial encephalomyopathy of Leigh's type.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/16. Computed tomography of the brain in metabolic diseases involving the central nervous system in children.We discuss the clinical and CT features of certain metabolic brain disorders which cause specific CT abnormalities. These disorders may be divided into those which affect the gray matter, white matter or a combination of both gray and white matter regions. In metabolic disorders which affect the gray matter, there is ventricular enlargement with basal cistern and cortical sulcal space enlargement. In metabolic disorders which affect the white matter, there are symmetrical hypodensities seen throughout the white matter region.- - - - - - - - - - ranking = 4keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/16. adult polysaccharidosis. Clinicopathological, ultrastructural, and biochemical features.An abnormal polysaccharide in the form of cytoplasmic spheroids was found in the nervous system and systemic organs of a man with a progressive neurological disorder characterized by onset at 47 years of age, severe weakness, sensory loss, and dementia. Results of biochemical analysis showed a marked increase in brain and heart polysaccharide that was resistant to digestion by a mixture of glucosidases and that exhibited an iodine-complex spectrum higher than that of normal glyocgen. Results of histochemical studies were consistent with the results of biochemical analysis and further defined the branching characteristics of the stored polysaccharide. Electron microscopy showed the cytoplasmic location of the spheroids, which were granular and filamentous.- - - - - - - - - - ranking = 0.33649820654245keywords = nervous system (Clic here for more details about this article) |
10/16. An autopsy case of Menkes kinky hair disease.An autopsy cases of Menkes kinky hair disease in a 1 year and 8 months old male infant is presented and compared with the morphological findings of the previous literatures. The main pathological changes are atrophy of the whole cerebellar cortex and bilateral temporal lobe, atrophy with demyelination of the white matter, tortuous running of the cerebral arteries, multiple diverticulosis of the urinary bladder and hyaline-like deposition in the gastric submucosa. Microscopically, the peculiar degenerative change of Purkinje cell (somal sprout) is the only characteristic lesion in our case and the others. It is suggested that Menkes kinky hair disease may be a syndrome due to metabolic disturbance appearing not only in ectoderm such as the central nervous system, but also in mesoderm such as connective tissue and bone.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
| | Next -> |