1/21. Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease.BACKGROUND: The transmissible spongiform encephalopathies constitute a fascinating and biologically unique group of invariably fatal neurodegenerative disorders that affect both animals and humans. Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker syndrome, and fatal familial insomnia represent the more common human phenotypes. Excluding the small number of iatrogenically transmitted cases, approximately 85% to 90% of patients develop CJD without identifiable explanation, with an increasing number of different mutations in the prion protein gene (PRNP) recognized as probably causative in the remainder. OBJECTIVE: To report on an 82-year-old woman with pathologically confirmed CJD found unexpectedly to harbor a novel mutation in PRNP. methods: Routine clinical investigations were undertaken to elucidate the cause of the rapidly progressive dementia and neurological decline manifested by the patient, including magnetic resonance imaging of the brain, electroencephalography, and cerebrospinal fluid analysis for the 14-3-3 beta protein. Standard postmortem neuropathological examination of the brain was performed, including immunocytochemistry of representative sections to detect the prion protein. Posthumous genetic analysis of the open reading frame of PRNP was performed on frozen brain tissue using polymerase chain reaction and direct sequencing. RESULTS: Concomitant with the exclusion of alternative diagnoses, the presence of characteristic periodic sharp-wave complexes on the electroencephalogram in combination with a positive result for 14-3-3 beta protein in the cerebrospinal fluid led to a confident clinical diagnosis of CJD, confirmed at autopsy. There was no family history of dementia or similar neurological illness, but patrilineal medical information was incomplete. Unexpectedly, full sequencing of the PRNP open reading frame revealed a single novel mutation consisting of an adenine-to-guanine substitution at nucleotide 611, causing alanine to replace threonine at codon 188. CONCLUSIONS: In addition to expanding the range of PRNP mutations associated with human prion diseases, we believe this case is important for the following reasons. First, from an epidemiological perspective, the avoidance of occasional incorrect classification of patients manifesting neurodegenerative disorders that may have a genetic basis requires systematic genotyping, particularly when there are uncertainties regarding the family history. Second, the incidence of spongiform encephalopathy in elderly patients beyond the typical age range may be underestimated and does not preclude a genetic basis. Finally, as a corollary, this case highlights problematic issues in human transmissible spongiform encephalopathies, as illustrated by disease penetrance and age of onset in genotype-phenotype correlations.- - - - - - - - - - ranking = 1keywords = affect (Clic here for more details about this article) |
2/21. Susac's syndrome: beneficial effects of corticosteroid therapy in a Japanese case.Susac's syndrome is a rare disorder characterized by the triad of microangiopathy of the brain and retina with hearing loss. More than 50 affected individuals have been reported worldwide, all Caucasians. We herein identify the first Japanese patient with Susac's syndrome. A 36-year-old man developed recurrent subacute encephalopathy, bi- a lateral sensorineural hearing loss, and retinal arteriolar occlusions, caused by microangiopathy from a year previously. T2-weighted MRI showed multiple high-signal lesions ti predominantly in the periventricular white matter. During the exacerbated phase both high-dose intravenous methyl-prednisolone and oral prednisone therapy produced beneficial effects. He showed definite remission within 2 years from the disease onset.- - - - - - - - - - ranking = 1keywords = affect (Clic here for more details about this article) |
3/21. Delirious mania in the elderly.Delirious mania is a clinical syndrome in which the signs and symptoms of delirium manifest themselves in the context of a manic episode. Though there have been numerous descriptions and case reports of this syndrome, all have described mania as the presenting feature, with signs of delirium developing subsequently, and none of the vignettes have involved elderly patients. We report two cases of elderly individuals with mania who initially presented as in a delirium. Both of them experienced clear manic episodes, which were confirmed by their psychiatric histories and clinical responses to mood stabilizers. Mania needs to be in the differential diagnosis of elderly people presenting with confusion, disorientation, and perceptual changes, particularly in those with a history of bipolar disorder.- - - - - - - - - - ranking = 135.15573590766keywords = mood (Clic here for more details about this article) |
4/21. Chronic subdural hematoma with vasogenic edema in the cerebral hemisphere--case report.An 80-year-old male with a history of hypertension presented with chronic subdural hematoma manifesting as progressive consciousness disturbance and left hemiparesis. T1-weighted and fluid attenuation inversion recovery (FLAIR) magnetic resonance imaging showed a fresh hematoma in the right subdural space with a midline shift of 15 mm. FLAIR and diffusion-weighted imaging showed a hyperintense area in the right paraventricular white matter compressed by the hematoma. Apparent diffusion coefficients (ADCs) corresponding to the hyperintense area in the central area of the affected cerebral hemisphere on FLAIR images were measured before and one month after the operation. The motion probing gradient was applied in the right-left direction to the body axis. Since the central area in the cerebrum includes nerve fibers perpendicular to the direction of the gradient, the measured ADC appeared to be anisotropic. Preoperative ADC in the right paraventricular white matter was anisotropic and greater than in age-matched normal subjects, so the edema was identified as the vasogenic type. The edema in the right paraventricular white matter resolved promptly with improvement of the midline shift and normalization of the ADC.- - - - - - - - - - ranking = 1keywords = affect (Clic here for more details about this article) |
5/21. ECT for the treatment of psychiatric symptoms in Basedow's disease.To treat psychiatric symptoms associated with hyperthyroidism, we administered electroconvulsive therapy (ECT) to a patient with Basedow's disease. After unsuccessful treatment with an oral antithyroid drug, neuroleptics, and mood stabilizer, the patient recovered completely after three ECTs and did not relapse in the 40-day follow-up period. Although hyperthyroidism has been considered to induce psychiatric symptoms by enhancement of the sensitivity and turnover in catecholaminergic neurotransmission, we suggest another possible mechanism, involving translational and activational regulation of functional proteins in the brain.- - - - - - - - - - ranking = 135.15573590766keywords = mood (Clic here for more details about this article) |
6/21. Neurotoxicity induced by Cefepime in a very old hemodialysis patient.Neurotoxicity is an unusual complication of cephalosporin therapy. Only few cases of neurotoxicity induced by Cefepime have been described and probably the frequency of Cefepime-induced status epilepticus is underestimated. We report a case of an 82 year-old male, ESRD patient on chronic hemodialysis program affected by pneumonia, who received a treatment with intravenous Cefepime (1 g/day) and developed a seizure 4 days after the starting antibiotic therapy. Cefepime-induced neurotoxicity was suspected and its administration was immediately discontinued. In order to increase Cefepime clearance a hemodialysis session was urgently started and an improvement of his conscious level was observed. On the following day, after a second hemodialysis session his clinical condition and the status of neurotoxicity were completely recovered. The patient was discharged from the hospital in stable clinical condition one week later. At variance with the cases previously reported, the daily dose of Cefepime administrated to our patient was 50% lower and respected drug prescription dosage. Thus, we speculate on the hypothesis that advanced age of our patient and metabolic encephalopathy induced by chronic uremia made him more sensitive to the neurotoxicity induced by the drug. In conclusion, our case suggests that, in very old patients on long-term hemodialysis, it should be considered, to avoid neurotoxicity, to monitor the clinical neurological status, to use Cefepime at lower dosage than that allowed in patients with severe renal impairment (1 g/day) and, when possible, to evaluate Cefepime plasma levels. However, in these patients, other agents of the same class should be considered such as cefotaxime and ceftriaxone which are characterized by both an hepatic and renal excretion. In alternative to cephalosporins, antibiotics with the same action spectrum in the absence of neurological toxicity (i.e. Meropenem) should be recommended.- - - - - - - - - - ranking = 1keywords = affect (Clic here for more details about this article) |
7/21. Analyzing the traumatic impact of childhood visual impairment.Material is presented from three analyses involving the impact on adult functioning of childhood trauma to the visual system. The clinical process by which unrecognized but ongoing traumatic reactions are identified for subsequent analysis is described. It is of particular importance, with these patients, to recognize their lifelong experience of visual confusion resulting from problems in their visual anatomy. Only then can fantasies and affects related to these physically induced states of confusion be worked through. Working through these reactions promotes the neutralization of related primitive narcissistic affects, mourning, and realistic accommodation, and leads to a more intact and integrated sense of self, and a marked increase in self-esteem. With this newly integrated sense of self, the complex interaction between physically induced confusion states and more typical developmental conflicts with objects can be worked through, resulting in more realistic and intense cathexes of the external world. The trauma suffered by these patients had been greatly compounded by its having gone unrecognized. To miss this yet again in an analysis is to repeat the past and retraumatize the patient. These findings have clear implications for patients with other biologically related symptoms (e.g., ADD, ADHD, and dyslexia).- - - - - - - - - - ranking = 2keywords = affect (Clic here for more details about this article) |
8/21. Intracerebral haemorrhage after thrombolytic therapy for acute myocardial infarction.Seven cases of intracerebral haemorrhage were identified following the use of thrombolytic therapy in a total of 710 patients with acute myocardial infarction. Each case was reviewed in detail with particular attention to the presenting symptoms. A confusional state was the commonest initial feature. Increased age and male sex were associated with increased risk of cerebral bleed. The possible role of intravenous heparin in increasing risk and the management of affected cases is discussed. Early recognition and action is emphasized.- - - - - - - - - - ranking = 1keywords = affect (Clic here for more details about this article) |
9/21. Confused and disturbed behavior in the elderly following silent frontal lobe infarction.It is unclear whether silent frontal lobe infarction is truly asymptomatic; frontal behavioral syndromes following strokes have rarely been reported. We studied 12 elderly patients with silent frontal lobe infarction who were exhibiting confused and disturbed behavior. Ten were male and two female; their ages ranged from 68 to 79 (mean 78). Three groups of symptom clusters emerged: changes in mood and emotional behavior, cognitive deterioration with minor psychiatric symptoms, and a confusional state. When related to the CT scan location, three regions were identified: predominantly orbitofrontal, deep white matter and caudate, and border-zones, respectively. These findings were related to what is known about the neuroanatomic location of the lesions and the role of the frontal subcortical circuitry in relation to behavior. The different manifestations could be explained by damage to the frontal lobe or interruption of the complex frontal subcortical circuits.- - - - - - - - - - ranking = 135.15573590766keywords = mood (Clic here for more details about this article) |
10/21. Lamotrigine in the treatment of confusion psychosis. A case report.We report on the successful treatment of four patients suffering from confusion psychosis according to the classification of Leonhard. The patients did not sufficiently respond to neuroleptic treatment or mood stabilizers like carbamazepine and valproate, but improved when lamotrigine was added, showing a marked reduction in clinical signs and symptoms. The implications of these findings including the possible mechanisms involved are discussed.- - - - - - - - - - ranking = 135.15573590766keywords = mood (Clic here for more details about this article) |
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