1/39. Cerebellar and basal ganglion involvement in Langerhans cell histiocytosis.Langerhans cell histiocytosis (LCH) is a disease of unknown cause characterised by proliferation of histiocytic granulomas in tissues; the primary cerebral manifestation is diabetes insipidus caused by hypothalamic infiltration. We present a patient in whom, except for the absence of high signal on T1 weighting in the posterior pituitary, consistent with central diabetes insipidus, MRI showed no evidence of hypothalamic involvement by histiocytosis, despite the long duration of the disease. However, there was bilateral, symmetrical involvement of the cerebellum and globus pallidus in addition to a calvarial lesion. High signal in the cerebellar white matter on T2-weighted images may represent demyelination, gliosis and cell loss, as previously reported on pathologic examination.- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
2/39. Possible mechanisms in infants for selective basal ganglia damage from asphyxia, kernicterus, or mitochondrial encephalopathies.magnetic resonance imaging and neuropathologic studies have demonstrated remarkably selective patterns of injury to subregions of the basal ganglia in children. Examples are kernicterus and certain mitochondrial encephalopathies, which cause selective injury to the globus pallidus, and near-total perinatal asphyxia, which causes lesions in the putamen and thalamus. To explain the differential vulnerability of nuclei within millimeters of each other, we hypothesize that their locations within the neurotransmitter-specific circuitry of the basal ganglia motor loop are important. In severe hypoxic-ischemic encephalopathy, excitatory glutamatergic pathways into the putamen and thalamus are overactive, but the globus pallidus might be protected because its activity is silenced by inhibitory neuronal activity. In contrast, the relatively high resting neuronal activity in the globus pallidus might make it more vulnerable to less intense, subacute oxidative stresses from mitochondrial toxins such as bilirubin or from genetic mitochondrial disorders. This hypothesis has implications for designing neuroprotective therapies and for treating associated chronic movement disorders.- - - - - - - - - - ranking = 3keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
3/39. meige syndrome secondary to basal ganglia injury: a potential cause of acute respiratory distress.BACKGROUND: meige syndrome is a movement disorder that includes blepharospasm and oromandibular dystonias. Its etiology may be idiopathic (primary) or it may arise secondary to focal brain injury. Acute respiratory distress as a feature of such dystonias occurs infrequently. A review of the literature on meige syndrome and the relationship between dystonias and respiratory compromise is presented. methods: A 60-year-old woman suffered a cerebral anoxic event secondary to manual strangulation. She developed progressive blepharospasm combined with oromandibular and cervical dystonias. neuroimaging demonstrated bilateral damage localized to the globus pallidus. Years later, she presented to the emergency department in intermittent respiratory distress associated with facial and cervical muscle spasms. RESULTS: Increasing frequency and severity of the disorder was noted over years. The acute onset of respiratory involvement required intubation and eventual tracheotomy. A partial therapeutic benefit of tetrabenazine was demonstrated. CONCLUSION: This case highlights two interesting aspects of Meige's syndrome: (1) Focal bilateral basal ganglia lesions appear to be responsible for this patient's movement disorder which is consistent with relative overactivity of the direct pathway from striatum to globus pallidus internal and substantia nigra pars reticularis; (2) Respiratory involvement in a primarily craniofacial dystonia to the point of acute airway compromise.- - - - - - - - - - ranking = 2keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
4/39. PET findings and neuropsychological deficits in a case of Fahr's disease.In a case of Fahr's disease with frontal lobe type dementia and hyperkinetic-hypotone syndrome, functional changes were investigated using positron emission tomography (PET) with (18)F-fluorodeoxyglucose (FDG) as a tracer. Computed tomography showed bilateral calcifications in the putamen and globus pallidus consistent with the diagnosis of Fahr's disease and a frontally pronounced brain atrophy. In contrast, reduced glucose uptake in PET was not only confined to the areas mentioned above, but extended to the temporal and parietal cortices, bilaterally. These functional changes corresponded to the neuropsychological deficits observed, i.e. disturbed selective attention and cognitive flexibility, verbal perseverations, and declarative memory deficits. It is suggested that functional changes may precede cerebral atrophy in Fahr's disease and may reflect deficits in functional circuits, which involve both the basal ganglia and the frontal, parietal, and temporal lobes.- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
5/39. Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.BACKGROUND: Infantile bilateral striatal necrosis (IBSN) encompasses several syndromes of bilateral symmetric, spongy degeneration of the caudate nucleus, putamen, and globus pallidus. The familial form of IBSN is rare, and inheritance is either autosomal recessive or maternal. METHOD: The authors describe an Israeli Bedouin kindred in which 15 children born to consanguineous parents were affected with familial IBSN. They evaluated the clinical and radiologic evolution of the disease in 11 patients and the cerebral pathologic findings in one patient. Three of the children were treated with oral biotin 100 mg/day. RESULTS: Inheritance was apparently autosomal recessive. The untreated children had a similar clinical picture including developmental arrest beginning at the age of 7 to 15 months, choreoathetosis, and dysphagia. Pendular nystagmus appeared at a late stage. MRI, performed at various stages of the disease, showed severe basal ganglia atrophy. Postmortem study in one patient showed severe atrophy of the lenticular nuclei with gliosis and loss of neurons. biotin, 100 mg/day, administered to the proband over a period of 15 months, may have slowed progression. In two other children treatment was initiated earlier and appeared to arrest or improve disease. CONCLUSIONS: Familial infantile bilateral striatal necrosis was inherited as an autosomal recessive trait. Clinical features included developmental arrest, dysphagia, and choreoathetosis. Imaging and pathology showed atrophy and degeneration of the basal ganglia. Oral biotin may have benefited three children.- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
6/39. Familial pediatric rapidly progressive extrapyramidal syndrome: is it Hallervorden-Spatz disease?The clinical features of two children of a family with rapidly progressive extrapyramidal-pyramidal-dementia complex have been described. Inheritance seems most likely to be autosomal recessive. magnetic resonance imaging results of brain were negative. Even so, the authors argued in favor of a diagnosis of Hallervorden-Spatz disease because the cases fulfilled the clinical criteria for diagnosis of this disease. Apart from the negative magnetic resonance findings, the other unusual feature was the early development of levodopa-induced dyskinesia.Few conditions need to be considered in the differential diagnosis of a childhood-onset rapidly progressive extrapyramidal syndrome. Such conditions include Wilson's disease, Hallervorden-Spatz disease (HSD), juvenile form of Huntington's disease, juvenile neuronal ceroid lipofuscinosis, early-onset machado-joseph disease neuroacanthocytosis, storage disorders, and variant form of dopa-response dystonias (DRD). Rarer conditions are Leigh's disease, Lafora body disease, and dentato-rubro-pallido-luysian atrophy. HSD is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. Onset is most commonly in late childhood or early adolescence. The disease can be familial or sporadic. When familial, it is inherited recessively and has been linked to chromosome 20. Recently, a mutation in the pantothenate kinase (PANK2) gene on band 20pl3 has been described in patients with typical HSD. HSD produces typical magnetic resonance imaging (MRI) changes in brain, aiding in antemortem diagnosis. The typical finding is of bilaterally symmetrical hyperintense signal changes in the external segment of globus pallidus, with surrounding hypointensity on T(2)-weighted image. These imaging features are fairly diagnostic and have been termed the "eye-of-the tiger sign". The hyperintensity represents pathologic changes, including gliosis, demyelination, neuronal loss, and axonal swelling, and the surrounding hypointensity is caused by loss of signal secondary to iron deposition. Described herein are the clinical aspects of a family with autosomal recessive inheritance with rapidly progressive extrapyramidal-pyramidal-dementia complex but with negative brain MRI results. The diagnosis should be considered a variant form of HSD.- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
7/39. A case of adult onset tic disorder following carbon monoxide intoxication.BACKGROUND: adult onset tic disorders are usually secondary in origin. We report a case of adult onset tic disorder following carbon monoxide (CO) intoxication with typical magnetic resonance imaging features. CASE REPORT: A 36-year-old woman developed temporarily suppressible patterned movements on her face, neck, and shoulder associated with sensory discomfort after CO poisoning. Magnetic resonance images showed bilateral symmetric cavitary changes in the globus pallidus. clonazepam relieved much of her symptoms. CONCLUSION: Our patient developed a monosymptomatic tic disorder following CO intoxication. This further supports that altered outflow signals from the basal ganglia, especially the globus pallidus, may contribute to the development of tic disorders.- - - - - - - - - - ranking = 2keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
8/39. Two cases of autosomal recessive generalized dystonia in childhood: 5 year follow-up and bilateral globus pallidus stimulation results.We report two brothers with an unknown form of early-onset familiar dystonia. Characteristic clinical features are (1) childhood-onset; (2) extrapyramidal motor symptoms; (3) dysarthria; and (4) mental retardation. Additional findings include loss of D(2)-receptors in both basal ganglia and hypoplasia of the cerebellar vermis with dilatation of the fourth ventricle and cisterna magna. There seems to be a progressive and non-progressive form of this clinical entity. Dystonic symptoms of the progressive form that occurred in one of the brothers were alleviated dramatically by bilateral internal globus pallidus (Gpi) stimulation, and the improvement has lasted now for 5 years.- - - - - - - - - - ranking = 5keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
9/39. diffusion-weighted magnetic resonance imaging in the syndrome of acute bilateral basal ganglia lesions in diabetic uremia.In this report, we have presented a diabetic patient with uremia, in which acute Parkinsonism occurred, coupled with acute mental confusion, after a sudden increase in blood urea nitrogen and serum creatinin levels. diffusion-weighted magnetic resonance imaging revealed a unique cytotoxic-type edema in the bilateral basal ganglia during the acute phase. Signal alterations were shown to regress in accordance with the normalized apparent diffusion coefficient (ADC) values, but irreversible cystic degeneration developed in the globus pallidus, with the very low preceding ADC values.- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
10/39. A case of adult onset pure pallidal degeneration. II. Analysis of neurotransmitter markers, with special reference to the termination of pallidothalamic tract in human brain.We analyzed neurotransmitter markers in a brain of a very rare case of pathologically confirmed adult-onset pure pallidal degeneration (PPD) as compared with 16 controls. Neurotransmitter concentrations are significantly altered in the globus pallidus (GP), subthalamic nucleus (ST) and the thalamic nuclei. Concentrations of gamma-aminobutyric acid (GABA) in the external segment (GPe) and internal segment (GPi) of GP and ST are decreased to 62, 45 and 55% of the control mean, respectively. Concentrations of glutamic acid are increased in GPi (144%) and ST (134%). choline acetyltransferase (ChAT) activities are increased in GPe (232%), GPi (218%), ST (161%), and ventroanterior (VA, 210%) and ventrolateral nucleus (VL, 193%) of the thalamus. Noradrenaline (NA) concentrations in GPe and GPi are 56 and 43% of the control mean, respectively. Dopaminergic and serotonergic systems show no remarkable change. The grid microdissection analysis demonstrates a patchy GABA distribution in the thalamus of 3 controls, whereas a small GABA-rich area in the ventro-oral nucleus (VO) according to the atlas of Hopf disappears in adult onset PPD. These results strongly suggest that (1) GP gabaergic neurons are selectively degenerated and striatopallidal GABAergic nerve terminals are hypoactive; (2) ChAT activities in GP, ST, VA and VL are increased; (3) the subthalamopallidal glutamatergic system is not hypoactive; (4) activity of the noradrenergic system in GP is decreased; and that (5) VO in the thalamus specifically receives GABAergic nerve terminals from GP in human brain.- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
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