1/9. Psychiatric symptoms as late onset of Wilson's disease: neuroradiological findings, clinical features and treatment.We describe a case of Wilson's disease with late psychiatric onset. Major depressive disorder was the first clinical manifestation at the age of 38 years. After pharmacotherapy with antidepressive agents, a manic episode was observed. Extrapyramidal hand tremor and micrography were the first neurological signs. Emotional lability occurred during worsening of extrapyramidal signs. diagnosis was based on urinary and serum copper levels, ceruloplasmin serum level, Kayser-Fleischer ring, and liver biopsy that detected cirrhosis. magnetic resonance imaging revealed basal ganglia hyperintensity on T1-weighted images, and hypodensity in the central part and hyperintensity in the peripheral part of the lentiform nucleus on T2-weighted images. Hyperintensity on T2-weighted images was also observed in the dorsal part of the midbrain. 123I-iodobenzamide single photon emission computed tomography (IBZM-SPECT) detected a normal distribution of the drug in the brain, with better signal in the right side and deficit of D2-dopaminergic receptors in the basal ganglia. Abnormal manganese erythrocyte level was observed. Treatment was based on penicillamine, zinc salts, low-copper diet, antidepressant agents, interpersonal psychotherapy and neurorehabilitation.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
2/9. dopamine transporter binding in Wilson's disease.INTRODUCTION: In Wilson's disease (WD), brain magnetic resonance images (MRI) show increased signal intensity in T2 weighted images in the lenticular nuclei, thalamus and brainstem, including the substantia nigra. A poor therapeutic response to levodopa in WD suggests the mechanism of a postsynaptic abnormality. However positron emission tomography studies show an involvement of the nigrostriatal presynaptic dopaminergic pathway. CASE REPORT: We report the clinical manifestations in a case of WD with akinetic-rigid syndrome and initial hesitation. The brain MRI showed an increased signal intensity lesion in the substantia nigra region, in addition to basal ganglion and thalamic lesions. However, dopamine transporter (DAT) imaging with 99mTc-TRODAT-1 revealed a nonsignificantly increased DAT uptake, suggesting a normal presynaptic nigrostriatal dopaminergic terminal. CONCLUSION: We suggest that significant heterogeneity can be found in WD patients and a normal presynaptic dopaminergic pathway may occur in some patients, even those with typical akinetic-rigid syndrome and evidence of substantia nigra involvement in the brain on MRI.- - - - - - - - - - ranking = 151.61270023601keywords = basal ganglion, ganglion (Clic here for more details about this article) |
3/9. Mid-brain pathology of Wilson's disease: MRI analysis of three cases.MRI scans were obtained from three patients with Wilson's disease, all of whom showed rigidity and dysarthria; two also showed tremor and dystonia. Two had been treated with D-penicillamine for seven and 14 years, respectively and their neurological abnormalities had improved, but the third patient had not been treated. T2-weighted MRI of the mid-brain in all three revealed the characteristic "face of the giant panda" sign, consisting of high signal intensity in the tegmentum except for red nucleus, preservation of signal intensity of the lateral portion of the pars reticulata of the substantia nigra and hypo-intensity of the superior colliculus. The clinical significance of these MRI abnormalities is discussed.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
4/9. Improvement of cerebral CT abnormalities following liver transplantation in a patient with Wilson disease.Cerebral CT performed in patients with Wilson disease (hepatolenticular degeneration) often reveals abnormalities of the putamen, globus pallidus, thalamocapsular region, cerebral cortex, dentate nucleus, and brain stem. We report a patient with Wilson disease who demonstrated rapid reversal of CT abnormalities following orthotopic liver transplantation.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
5/9. Hepatic copper and metallothionein distribution in Wilson's disease (hepatolenticular degeneration).Wilson's disease is a rare inherited disorder of copper (Cu) metabolism characterized by the deposition of Cu in the liver, brain, and cornea. The levels of metallothionein (MT), Cu, and zinc (Zn) in the livers of two Wilson's disease patients were analyzed in this study. About 50-fold increase in the Cu levels above normal controls was observed in both patients (160 and 298 micrograms/g of wet tissue). About 73% of subcellular Cu was present in the cytoplasmic fraction and most of it was in association with MT. Analysis of hepatic MT levels showed a 3-fold increase (863 micrograms/g of wet tissue) over control human levels (321 micrograms/g of wet tissue). The two forms of MT (MT-I and MT-II) were isolated from one liver sample. Both forms contained high amounts of Cu (11 to 12 g atoms/mole), indicating saturation of MT which had only 2 to 3 g atoms of zinc. The distribution of MT in the hepatocytes was investigated using an immunohistochemical method. In tissue sections with minimal tissue damage, there was intense cytoplasmic staining for MT in hepatocytes whereas both nuclear and cytoplasmic staining was found in tissue sections with extensive necrosis and fibrosis. These results suggest that MT is the major hepatic Cu-binding protein in Wilson's disease, that it is present in a form saturated with Cu, and that only in degenerating hepatocytes is it found in the nucleus as well as the cytoplasm.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
6/9. Wilson's disease studied with FDG and positron emission tomography.Four patients with Wilson's disease and eight normal controls were studied with 2-deoxy-2-[18F]fluoro-D-glucose (FDG) and positron emission tomography (PET). The patients had diffusely reduced glucose metabolism in all brain regions evaluated compared with controls, with the exception of the thalamus. The ratio of the cerebral metabolic rate for glucose in the lenticular nuclei to hemispheres declined from 1.23 ( /- 0.14 SD) in controls to 1.03 ( /- 0.06) (p less than 0.025) in Wilson's disease patients. Compared with Huntington's disease, the PET FDG results in Wilson's disease indicate relatively less focal involvement of the caudate nucleus, more severe focal changes in the lenticular nuclei, and more significant global changes in glucose metabolism.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
7/9. calcium pyrophosphate dihydrate deposition in the intervertebral discs in a case of Wilson's disease.The vertebral column from a known case of Wilson's disease (hepatolenticular degeneration) was examined by radiological, histological, histochemical and x-ray microanalytical techniques which demonstrated the presence of focal depositions of calcium pyrophosphate dihydrate (CPPD) in the intervertebral discs. These deposits were present in both the annulus fibrosus and the nucleus pulposus but in certain discs the deposits were concentrated near the interface between disc and vertebral body bone endplates. At these sites there was new bone formation with narrowing of the discs, irregularity and sclerosis of the bone endplates and exostosis.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
8/9. CT scan in a case of progressive generalized dystonia with amyotrophic paraplegia.In a case characterized by progressive generalized dystonic paraplegia with amyotrophy and mental deficiency, CT scanning shows a bilateral lenticular nucleus hypodensity. A similar picture can be found in Wilson disease. However, this patient presented no biochemical, hepatic or ocular abnormalities.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
9/9. Acute dystonia with thalamic and brainstem lesions after initial penicillamine treatment in Wilson's disease.dystonia is a common manifestation in Wilson's disease (WD). The striatum, especially the putamen, has been considered to be responsible for dystonia. We reported 3 patients who developed acute generalized dystonia and akinetic rigid syndrome following an initial therapy with d-penicillamine 125-500 mg daily. Brain MRI revealed lesions in the thalamus and the brainstem, particularly the tegmentum, and the basis pontis in addition to the basal ganglion lesions. After the episode, 1 patient continued to receive d-penicillamine therapy and 2 changed to zinc sulfate treatment. The generalized dystonia improved in the following 3 months and 3 years respectively in 2 patients. Follow-up brain MRI of these 2 patients revealed that the lesions in the thalamus and brainstem disappeared or resolved almost completely. From these data, acute generalized dystonia with brainstem and thalamic lesions may occur in WD patients after an initial d-penicillamine therapy. Furthermore, the dystonia may resolve following the disappearance of the brainstem and thalamic lesions.- - - - - - - - - - ranking = 151.61270023601keywords = basal ganglion, ganglion (Clic here for more details about this article) |