1/9. A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma.We report a familial case of hereditary ceruloplasmin deficiency (HCD) showing an A-G transition in intron 6 of the ceruloplasmin gene. Clinical features consisted of chorea, cerebellar ataxia, dementia, diabetes mellitus, retinal pigmentation and iron deposition in the liver and brain without copper overload in those organs. The patient's children and siblings had similar laboratory results, but did not show any neurological abnormalities. She was medicated for diabetes mellitus at 43 years of age, and neurological signs appeared when she was 52 years old. The laboratory findings were anemia, low concentrations of iron and copper in serum and of copper in urine. ceruloplasmin was not detected in the serum. The iron and copper contents in the liver were 3,580 and 10 microg/g wet tissue, respectively. MRI of the brain showed iron deposition in the basal ganglia, dentate nucleus and thalamus. This case did not show any abnormal increase in copper in the blood and urine following CuSO(4)5H(2)O oral overloading test. Following the intravenous administration of commercially available fresh-frozen human plasma (FFP) containing ceruloplasmin, the serum iron content increased for several hours due to ferroxidase activity of ceruloplasmin. In the liver, the iron content decreased more with the combined intravenous administration of FFP and deferoxamine than with FFP administration alone. Her neurological symptoms improved following repetitive FFP treatment.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
2/9. The syndrome of acute bilateral basal ganglia lesions in diabetic uremic patients.Acute extrapyramidal movement disorders have rarely been reported in uremic patients. We had previously presented three cases of acute movement disorders with bilateral basal ganglia lesions in uremia, and had proposed that it is not a rare condition. The objective of this study is to establish a more accurate clinical profile of this rarely described clinical syndrome, and to call attention to its common occurrence. We prospectively studied six patients we encountered from March 1996 to June 2001. We also reviewed the clinical records of a large population of uremic patients and identified six more cases. The clinical manifestations, laboratory findings, neuroimages, and clinical outcomes of these 12 patients were analyzed. When possible, each patient was followed up to the present time. Twelve patients had acute onset of movement disorders and bilateral basal ganglia lesions. All of the patients were diabetic. They had acute-onset Parkinsonism or dyskinesias, together with various symptoms such as consciousness disturbance, dysarthria, dysphagia, or ataxia. The main laboratory test results of abnormalities consisted of elevated blood urea nitrogen, creatinine, and metabolic acidosis. They had uniform neuroimaging findings of symmetrical bilateral basal ganglion changes. These changes regressed or disappeared during follow-up. The clinical prognoses were diverse. We believe that this group of patients represents a well-demarcated clinical syndrome, which is not uncommon but has previously been rarely addressed. The underlying mechanism of such lesions may be associated with metabolic, as well as vascular factors.- - - - - - - - - - ranking = 93.770445578593keywords = basal ganglion, ganglion (Clic here for more details about this article) |
3/9. Isolated superior rectus palsy due to contralateral midbrain infarction.BACKGROUND: Isolated superior rectus palsy due to a contralateral midbrain lesion has not been reported. CASE DESCRIPTION: A 71-year-old woman suddenly developed diplopia. Examination showed that she had isolated superior rectus paresis. magnetic resonance imaging showed a tiny infarct at the area of the oculomotor nucleus on the contralateral side. CONCLUSION: Isolated superior rectus palsy may be caused by a contralateral midbrain lesion that selectively involves crossing superior rectus nerve fibers.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
4/9. magnetic resonance imaging and single-photon emission computed tomography changes in hypoglycemia-induced chorea.We present two case studies, one of generalized chorea and one of hemichorea, both after severe hypoglycemia episodes. Both cases showed hyperperfusion in their SPECT scans. The MRI and SPECT findings serve as clues regarding the role of basal ganglion dysfunction associated with chorea.- - - - - - - - - - ranking = 93.770445578593keywords = basal ganglion, ganglion (Clic here for more details about this article) |
5/9. Spontaneous hemiballism and disappearance of parksinsonism following contralateral lenticular lacunar infarct.Hemiballism was observed in a 77-year-old woman with Parksinson disease after a contralateral lenticular infarct without apparent involvement of the subthalamic nucleus. Parkinsonian signs ipsilateral to the hemiballism remained abolished despite subsequent nearly complete recovery from the hyperkinesias. It is argued that clinical events were due to a single ischemic lesion of the putamen-pallidum complex.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
6/9. Sensorimotor stroke due to thalamocapsular ischemia.A 61-year-old hypertensive diabetic man awoke with a numb, heavy right arm and leg; symptoms progressed within 30 hours to a dense right hemisensory syndrome involving head, face, trunk, arm, and leg, accompanied by a right hemiparesis, involving tongue, face, arm, and leg with extensor plantar response, leaving him barely able to move the arm and leg against gravity. No impairment in alertness, memory, language, praxic, or visual functions was evident at any time. Improvement in motor function began in 24 hours and progressed to walking status by discharge on day 23. Eight days passed before the sensory deficit showed improvement, and it was still prominent at discharge. autopsy three months later showed a 4 X 2 X 4-mm lacune in the ventral posterior nucleus of the left thalamus, with a zone of pallor on stained microscopic sections extending into the immediately adjacent posterior limb of the internal capsule. This case appears to be unique in that a sensorimotor stroke has been produced by a confirmed thalamocapsular infarct.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
7/9. Hemiballism with striatal hyperintensity on T1-weighted MRI in diabetic patients: a unique syndrome.We report 3 diabetic patients who developed hemiballism without involvement of the subthalamic nucleus. Each patient exhibited vigorous, flinging, ballistic involuntary movements in the extremities and slight facial grimacing involving one side of the body. Although diabetes was poorly controlled in all 3, each patient was nonketotic at the onset of hemiballism. magnetic resonance imaging (MRI), in these patients showed abnormalities in the striatum contralateral to the hemiballism that were characterized by an increase in intensity on T1-weighted images and a slight decrease in intensity on T2-weighted images, and these changes persisted for more than 2 months. The striatal lesions are presumed to have developed following mild ischemia in the territory of the lateral striate branches of the middle cerebral artery. This combination of hemiballism and striatal lesions in diabetic patients may constitute a unique syndrome.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
8/9. Hemiballism-hemichorea and non-ketotic hyperglycaemia.Three patients with hemiballism-hemichorea caused by non-ketotic hyperglycaemia are presented, two of whom had hyperosmolar non-ketotic hyperglycaemic syndrome. In two of the three patients, the hyperkinesia was the initial presenting symptom of their diabetes mellitus. The hypersensitivity of the postmenopausal dopamine receptor, decreased gamma-aminobutyric acid in the brain in non-ketotic hyperglycaemia, coexisting lacunar infarct in the basal ganglion, and pre-existing metabolic dysfunction in the basal ganglion may all have played a part in the pathogenesis of this movement disorder.- - - - - - - - - - ranking = 187.54089115719keywords = basal ganglion, ganglion (Clic here for more details about this article) |
9/9. Downward gaze palsy caused by bilateral lesions of the rostral mesencephalon.A 55-year-old man with diabetes mellitus developed diplopia and experienced difficulty in moving his eyes in the vertical plane, especially downward. Horizontal movement of each eye was normal with exotropia. magnetic resonance imaging revealed small and high signals on both sides of the midbrain near the interstitial nucleus of Cajal (INC). Based upon the recent experimental evidence, we speculate that bilateral lesions involving the INC may have caused downward gaze palsy in our patient.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |