1/4. Parkinsonism in cerebrotendinous xanthomatosis.This report describes a case of cerebrotendinous xanthomatosis (CTX) accompanied by clinical manifestations of parkinsonism, including oily and masked face, marked akinesia, muscle rigidity and resting hand tremor. magnetic resonance imaging (MRI) of the brain showed high intensity areas on T2 weighted imaging, and slightly low intensity areas on T1 weighted imaging in the right globus pallidus and the left putamen. Cerebral cortical atrophy with slight ventricular dilatation and cerebellar atrophy were present as well. This is a case report of CTX which manifested parkinsonism. Parkinsonism may not be a coincidental manifestation in CTX, but rather represent a symptom of the same underlying diathesis.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
2/4. hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases.Three patients are reported with a neurological disorder in which hypokinesia and rigidity were the most prominent clinical signs. On CT scan and MRI, two were found to have bilateral lesions in the striatum, mainly in the putamen, and the third had bilateral lesions in the posterior limb of the internal capsule. Laboratory investigations suggested abnormal pyruvate metabolism in all three cases, which was confirmed to skeletal muscle in two cases. In the third the cause was a nadh dehydrogenase defect. The signs and symptoms, the bilateral striatal lesions in two of the patients, and the abnormal pyruvate metabolism justify a classification of mitochondrial encephalomyopathy, resembling Leigh syndrome. This diagnosis must be considered for infants and children presenting with Parkinsonian signs, and mitochondrial energy metabolism should be investigated.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
3/4. Effect of D-penicillamine treatment on brain metabolism in Wilson's disease: a case study.Sequential measurements of brain glucose metabolism were carried out in a patient with Wilson's disease, before and after successful treatment with D-penicillamine. They demonstrate an evolution of regional metabolism consistent with clinical improvement. The first study showed marked hypometabolism in the putamen on both sides. The second analysis showed bilateral improvement, with predominant residual deficits in the right putamen, while clinical symptoms of striatal dysfunction persisted on the left side. This observation suggests that positron emission tomography is able to follow the neurological evolution in cases of Wilson's disease.- - - - - - - - - - ranking = 2keywords = putamen (Clic here for more details about this article) |
4/4. magnetic resonance imaging in a case of autopsy-proved adult subacute necrotizing encephalomyelopathy (Leigh's disease).Leigh's disease, or subacute necrotizing encephalomyelopathy (SNE), in adults is rare, and its diagnosis has depended on the postmortem identification of characteristic lesions in a typical distribution. We observed an autopsy-proved case of SNE in which the diagnosis was established by the distribution and evolution of lesions documented by serial magnetic resonance imaging (MRI). A 21-year-old woman insidiously developed diplopia and gait disturbance, and subsequently deteriorated to a vegetative state over seven months. An initial MRI obtained one month after presentation showed increased signal intensity that surrounded the aqueduct of Sylvius and involved the tectum of the midbrain. Serial MRI scans showed these lesions to extend and symmetrically involve the tectum of the midbrain, caudate, putamen, globus pallidus, and substantia nigra, while sparing the mammillary bodies and red nuclei. Despite treatment with 2 g of thiamine administered intravenously daily, she continued to deteriorate and died. Results of an autopsy established the diagnosis of SNE and confirmed the MRI-identified distribution of lesions. To our knowledge, this case is the first report of MRI findings in an adult with autopsy-proved SNE, suggesting that MRI can be valuable in the early diagnosis of this disease.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |