11/13. ubiquitin-positive frontotemporal lobar degeneration presenting with progressive Gogi (word-meaning) aphasia. A neuropsychological, radiological and pathological evaluation of a Japanese semantic dementia patient.A patient with progressive anomia and alexia with agraphia for kanji (Japanese morphograms) is described. The patient showed a deficit in single-word comprehension and on-reading (a type of reading that conveys phonetic value) dominance in kanji reading, i.e. on-preceding (pronouncing first with on-reading, irrespective of its preferred reading) and kun-deletion (inability to recall and recognize kun-reading [another type of reading that conveys meaning]) when reading a single-character kanji. These features were due to loss of lexico-semantic information and thus the patient was regarded as having progressive Gogi (word-meaning) aphasia by Imura, a Japanese manifestation of semantic dementia. Macroscopically, neuropathological examination disclosed atrophy of the left frontotemporal lobe with accentuation in the anterior portion of the temporal lobe. Histologically, there was neuronal loss in the cerebral cortex, hippocampus, parahippocampal gyrus, amygdala, caudate nucleus, and putamen. ubiquitin-immunoreactive neuronal inclusions were present in the hippocampal dentate granular cells. This case demonstrates that progressive Gogi aphasia is semiologically identical to semantic dementia, and our patient clinicopathologically resembled those of Rossor et al. [Rossor, M.N., Revesz, T., Lantos, P.L., Warrington, E.K. Semantic dementia with ubiquitin-positive tau-negative inclusion bodies. Brain 2000; 123: 267-76.] and Hodges et al. [Hodges, J.R., Davies, R.R., Xuereb, J.H., Casey, B., Broe, M., Bak, T.H., et al. Clinicopathological correlates in frontotemporal dementia. Ann Neurol 2004; 56: 399-406.].- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
12/13. Acute fatal deterioration in putaminal hemorrhage.BACKGROUND: Clinical deterioration in patients with spontaneous intracerebral hemorrhage has rarely been studied. It has been previously thought that intracranial hematomas bleed in a monophasic fashion. Recent studies have demonstrated continuous active bleeding within hours after the event, resulting in enlargement of the hematoma. However, acute sudden and fatal deterioration suggesting a rebleed is rarely reported. SUMMARY OF REPORTS: An 84-year-old man was admitted with a moderate-size hemorrhage in the putamen and was treated for hypertension during the first day of admission. He acutely demonstrated extensor posturing and light-fixed pupils. Repeat CT scan showed massive enlargement of the intracranial hematoma and extension into the ventricles causing acute hydrocephalus. A 72-year-old man was admitted with a mid-size hemorrhage in the putamen. Acute deterioration with loss of all brain stem reflexes except for cornea reflexes was associated with a large increase in volume of the hematoma, 7 hours after the initial hemorrhage. An 85-year-old woman was admitted with a small hemorrhage in the putamen and recovered to be able to walk unassisted. She suddenly died from a recurrent massive putaminal hemorrhage 2 weeks after the ictus. CONCLUSIONS: patients with spontaneous intracerebral hemorrhage in the putamen may die acutely from fatal catastrophic enlargement of the initial hematoma hours to days after the ictus. In some patients with spontaneous intracerebral hemorrhage and clinical deterioration, rebleeding may be a possible mechanism.- - - - - - - - - - ranking = 4keywords = putamen (Clic here for more details about this article) |
13/13. Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?We report on two siblings, a girl of 7 years and a boy of 2 years, who presented in infancy with hypotonia, athetoid movements, myopathy and severe developmental delay. The progressive clinical course was characterized by ophthalmoplegia, pyramidal tract signs, loss of visual contact and failure to thrive. The older sister died at the age of 7 years. The younger brother followed an almost identical clinical course. MRI of the brain revealed bilateral hypodensities and atrophy of the putamen. Neurophysiological investigations were consistent with peripheral neuropathy. Investigations for neurometabolic disorders in urine, plasma and CSF of both patients revealed a consistent increase of methylmalonic acid in urine, plasma and CSF as well as borderline low free GABA in CSF. Except for an inconstant elevation of lactate in the boy, metabolic acidosis, hypoglycaemia, episodic ketoacidosis, or hyperammonaemia, the usual concomitants of organoacidopathies, were absent in both children. homocystinuria was excluded. Methylmalonic aciduria did not respond to antibiotic treatment, vitamin B12 therapy nor dietary protein restriction. Incorporation of [14C]propionate into protein in cultured fibroblasts was pathologically but inconsistently decreased. Both patients' cell lines showed only minimal response to hydroxocobalamin and normal methylmalonyl-coa mutase activity. CONCLUSION: Even though the definitive underlying enzymatic defect in this sibship remains obscure our results suggest a new genetic disorder. This report illustrates that hitherto undescribed metabolic disorders remain to be elucidated even in long investigated areas of intermediary metabolism such as methylmalonic aciduria.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
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