1/80. Serial brain SPECT images in a case of Sydenham chorea.BACKGROUND: The pathophysiological nature of Sydenham chorea (SC) has been presumed to be an autoimmune-mediated inflammatory process. Positron emission tomography in SC has revealed a striatal hypermetabolism that might explain the transient neuronal dysfunction. However, any focal hyperperfusion in the striatum or its related structures has not been demonstrated in previous single photon emission computed tomographic (SPECT) imaging studies, which raised a concern about the pathogenesis of the striatal hypermetabolism. OBJECTIVE: To investigate the cerebral perfusion patterns of the subcortical structures by using serial technetium Tc 99m-ethyl cysteinate dimer SPECT in a case of SC, which may provide a clue for the pathophysiological mechanisms. DESIGN: A case report and serial SPECT studies. CASE PRESENTATION: A girl aged 4 years 3 months showed severe generalized choreic movements with concomitant signs of acute pharyngitis. Results of a laboratory study taken 7 days after the onset of chorea showed elevated antistreptolysin O titer, c-reactive protein levels, and erythrocyte sedimentation rate. Other laboratory data, throat culture, echocardiography, brain magnetic resonance imaging, and electroencephalography did not reveal any abnormalities. Five days after treatment with haloperidol and penicillin, the chorea began to improve slowly, and completely resolved in 2 months. RESULTS: Three serial SPECT images and semiquantitative analysis of cerebral perfusion were obtained. Cerebral perfusion in the striatum and thalamus was markedly increased bilaterally during the stage of active chorea and then returned nearly to its baseline level during the convalescent phase. These cerebral perfusion patterns were concordant with semiquantitative analysis. CONCLUSIONS: Hyperperfusion in both the striatum and thalamus in our patient may reflect the subcortical inflammatory processes in SC. The unequivocal SPECT findings in our patient are difficult to reconcile with the negative findings of previous SPECT studies but may suggest the heterogeneity of the perfusion patterns in SC.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/80. blood brain barrier destruction in hyperglycemic chorea in a patient with poorly controlled diabetes.A case of hemichorea in a patient with poorly controlled diabetes is reported. T1-weighted magnetic resonance imaging (MRI) showed an unusual homogeneous high-intensity area in the corpus striatum. Of interest in the case was the fact that the globus pallidus, which was enhanced with gadolinium at the onset of hemichorea, showed homogeneous high-intensity on a subsequent T1-weighted image. This indicated that blood brain barrier destruction preceded the signal intensity change in the basal ganglia. As far as the authors could determine, this is the first reported case showing such enhancement during the course of diabetic hemichorea.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
3/80. Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.BACKGROUND: Paroxysmal dystonic choreoathetosis (PDC) is a rare familial movement disorder that has been mapped to chromosome 2q31-36. OBJECTIVE: To study the first Japanese family with PDC clinically and genetically. patients AND methods: We studied a large Japanese family in which at least 17 members in 6 generations have been affected by PDC. We interviewed and examined 26 family members, 8 of whom revealed choreoathetosis-like and dystonialike involuntary movement and 1 of whom revealed no involuntary movement but only muscle stiffness such as the aura of paroxysmal dystonic choreoathetosis (PDC). genetic linkage studies of this family were carried out with polymorphic dna markers. RESULTS: The attacks of involuntary movement or muscle stiffness were precipitated by ovulation, menstruation, emotional stress, or caffeine or alcohol ingestion. magnetic resonance imaging of the brain revealed no abnormalities. clonazepam therapy was effective for reducing the attacks, and ingestion of garlic was believed by patients to be effective for softening the attacks. An affected woman with only muscle stiffness showed remission after hysterectomy for hysteromyoma. This woman also had the disease haplotype and transferred it to her typical PDC-affected daughter. Maximal pairwise logarithm of odds scores exceeding 2.00 were obtained at D2S2250, D2S1242, D2S377, D2S2148, and D2S126. The PDC gene was demonstrated by linkage analyses to be located in a 15.3-centimorgan interval lying between D2S371 and D2S339 based on pairwise and multipoint logarithm of odds scores and obligate recombination events in affected individuals. CONCLUSIONS: Linkage of PDC to chromosome 2q32-36 was confirmed in a Japanese family. The clinical characterizations of this family with PDC include that ovulation seems also to be a precipitating factor of the attacks and that hysterectomy seems to be effective for softening the attacks. Although low-dose clonazepam treatment was most effective, garlic use was believed by affected members to be effective for softening the attacks. Furthermore, based on the results of clinical and genetic analyses, we suggest that muscle stiffness without involuntary movement may represent a forme fruste of PDC.- - - - - - - - - - ranking = 0.2keywords = brain (Clic here for more details about this article) |
4/80. neuroacanthocytosis masquerading as Huntington's disease: CT/MRI findings.neuroacanthocytosis (NA) is a rare, degenerative, presumably autosomal-recessive disorder of the nervous system presenting in adulthood and is associated with acanthocytosis of the peripheral blood. The clinical spectrum of NA shares similarities with Huntington's disease (HD), including dyskinetic choreiform movements and degeneration of the caudate nucleus. A woman presented with choreiform movements and was given a presumed diagnosis of HD. neuroimaging studies were consistent with HD. She lacked the genetic marker for HD, and further evaluation revealed acanthocytosis of the peripheral blood. The case illustrates the similarities and differences in the clinical presentations and neuroimaging studies of these two disease entities, emphasizing the need for a careful clinical evaluation.- - - - - - - - - - ranking = 0.036484872784821keywords = nervous system (Clic here for more details about this article) |
5/80. Acute onset of chorea and dystonia following a febrile illness in a 1-year-old boy.A 12-month-old boy with acute onset hemichorea and dystonia following a gastroenteritis has abnormal signal intensities of his basal ganglia on brain magnetic resonance imaging (MRI). A rigorous laboratory investigation is successful in diagnosing his rare condition. A discussion of the differential of abnormal basal ganglia on MRI is presented to help illustrate this case.- - - - - - - - - - ranking = 0.2keywords = brain (Clic here for more details about this article) |
6/80. 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 = 1.2keywords = brain (Clic here for more details about this article) |
7/80. chorea in juvenile primary antiphospholipid syndrome. Reversible decreased circulation in the basal ganglia visualised by single photon emission computed tomography.chorea was observed in a 12-year-old girl with primary antiphospholipid syndrome (APS). She developed severe chorea in a few weeks. On immunosuppressive treatment, including high doses of glucocorticoids and cyclophosphamide, she had a rapid clinical recovery. Single photon emission computed tomography (SPECT) of the brain showed decreased circulation in the basal ganglia and in the medial parts of both temporal lobes. One month after treatment, SPECT was completely normalised. APS in children has a variety of clinical manifestations, and should be suspected in cases of unexplained thromboembolic disease or obscure neurological symptoms.- - - - - - - - - - ranking = 0.2keywords = brain (Clic here for more details about this article) |
8/80. Non-ketotic hyperglycemia in a young woman, presenting as hemiballism-hemichorea.We report a 22-year-old girl presenting with acute onset left sided hemiballism-hemichorea (HH) and non-ketotic hyperglycemia (NKH). Initial brain CT revealed faint hyperdensities, sharply confined to the contralateral nucleus caudatus and putamen. Sequential MRI investigations yielded increasing hypersignal intensities on T1-weighted images and resolving hypodensities on T2-weighted images of the right striatum, leaving small sequelae in the head of the right caudate nucleus. NKH is an unusual cause of HH. The abnormalities seen in neuroimaging are rare, but seem to be quite specific to this syndrome. We give an update on current literature regarding the possible pathophysiological processes underlying this specific clinical entity.- - - - - - - - - - ranking = 0.2keywords = brain (Clic here for more details about this article) |
9/80. Thalamic stimulation for choreiform movement disorders in children. Report of two cases.Surgery for movement disorders is most commonly performed in patients with dyskinesia and tremor associated with Parkinson's disease or in those with essential tremor. The role of ablative surgery or deep brain stimulation in patients with choreiform movements is poorly defined. The authors placed thalamic stimulation systems in two children with disabling choreiform disorders due to intracerebral hemorrhage or cerebral palsy. Each patient displayed choreiform movements in the upper extremities both at rest and with intention, which interfered with daily activities and socialization. Both children obtained significant improvement in their choreiform movements, and their upper extremity function improved with no incidence of morbidity. Thalamic stimulation appears to be a promising and nonablative approach for children with choreiform movement disorders.- - - - - - - - - - ranking = 0.2keywords = brain (Clic here for more details about this article) |
10/80. Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family.Paroxysmal dystonic choreoathetosis (PDC) is an unusual hyperkinetic movement disorder characterized by attacks of chorea, dystonia, and ballism with onset in childhood. We report a large British family with dominantly inherited PDC linked to chromosome 2q and describe the clinical features in 20 affected family members. Attacks were precipitated by a variety of factors, including caffeine, alcohol, or emotion, and could be relieved by short periods of sleep in most subjects. The clinical features in the family are compared with those of 11 other PDC families in the literature and a core phenotype for PDC suggested. CSF monoamine metabolites measured at baseline and during an attack in one subject were found to increase during the attack. magnetic resonance spectroscopy of brain and basal ganglia performed both during and between attacks was normal. Positron emission tomography using the D2 receptor ligand, 11C-raclopride, showed no abnormalities.- - - - - - - - - - ranking = 0.2keywords = brain (Clic here for more details about this article) |
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