RESUMO
A 71-year-old man presented with breathlessness and visual disturbance. On examination of the chest, he had signs suggestive of a right-sided pleural effusion and a neurological examination yielded conjugate vertical gaze palsy. Subsequent investigations revealed pleural thickening and mesothelioma. His anti-Ma2 antibodies were positive indicating a paraneoplastic syndrome as the cause of the vertical gaze palsy.
Assuntos
Neoplasias Pulmonares/complicações , Mesotelioma/complicações , Oftalmoplegia/etiologia , Síndromes Paraneoplásicas Oculares/etiologia , Idoso , Biópsia , Humanos , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/patologia , Masculino , Mesotelioma/diagnóstico por imagem , Mesotelioma/patologia , Mesotelioma Maligno , Derrame Pleural Maligno/etiologia , Tomografia Computadorizada por Raios XRESUMO
A 65-year-old man presented with transient neurological symptoms, followed by rapid cognitive decline, myoclonus and fevers. He had evidence of scleritis and an arthropathy. This paper reports the clinicopathological conference discussed at the Association of British Neurologists Annual Meeting 2017.
Assuntos
Disfunção Cognitiva/patologia , Mioclonia/patologia , Esclerite/patologia , Vasculite/patologia , Idoso , Disfunção Cognitiva/diagnóstico , Humanos , Artropatias/diagnóstico , Artropatias/patologia , Masculino , Mioclonia/diagnóstico , Recidiva , Esclerite/diagnóstico , Vasculite/diagnósticoRESUMO
Introduction. Paraneoplastic syndromes represent rare symptom complexes resulting from the ability of tumour cells to disrupt the homeostatic processes of various bodily systems. Here we present two cases to demonstrate how such tumours may evade detection even after extensive investigation and how even relatively benign tumours can produce severe neurological symptoms. Case 1. A 69-year-old female was admitted with a subacute onset of dysarthria, ataxia, and cerebellar signs. Workup revealed a relatively benign Non-Hodgkin's Lymphoma. Case 2. A 64-year-old female was admitted with acute leg weakness, which progressed to quadriplegia and was eventually fatal over the ensuing months. Her Ca-125 was elevated, though three different CT views of her pelvis and surgical exploration failed to demonstrate any malignancy. Discussion. These cases highlight how even relatively benign or very small tumours may result in severe neurological symptoms. Suspecting and investigating paraneoplastic syndromes (PNSs) are crucial as up to 80% of patients present with PNS before there is any other indication of malignancy. A PET scan and regular surveillance may reveal occult malignancies better than CT or MRI. Neuromodulatory therapies and treatment of the underlying malignancy remain the best management options in these patients.
Assuntos
Malformações Vasculares do Sistema Nervoso Central/fisiopatologia , Transtornos Cognitivos/etiologia , Angiografia por Ressonância Magnética , Idoso , Malformações Vasculares do Sistema Nervoso Central/complicações , Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Malformações Vasculares do Sistema Nervoso Central/psicologia , Malformações Vasculares do Sistema Nervoso Central/terapia , Transtornos Cognitivos/psicologia , Embolização Terapêutica , Humanos , Masculino , RadiografiaRESUMO
It is now more than ten years since pathogenic mutations were first described in the gene encoding presenilin 1 (PSEN1) on chromosome 14. Although PSEN1 mutations are "deterministic" for Alzheimer's disease, they are associated with marked heterogeneity in the clinical expression of neurological features. We review recent publications on the clinical neurological phenotype of PSEN1 mutations, many of which now appear only in abstracts or brief communications, perhaps because PSEN1 mutations are no longer regarded as "novel". However, the clinical heterogeneity associated with these mutations prompts important questions about possible genetic and epigenetic factors which may modify disease phenotype. This area, which may also be relevant to neurodegenerative disorders resulting from other genetic mutations, such as those in the tau gene, currently remains ill-understood.
Assuntos
Doença de Alzheimer/genética , Predisposição Genética para Doença , Mutação/genética , Fenótipo , Presenilina-1/genética , Genótipo , HumanosRESUMO
Internal carotid dissection most commonly presents as headache, focal neurological deficits or stroke. Rarely it can manifest itself by causing a palsy of the lower cranial nerves (IX, X, XI, XII). The reported incidence of isolated cranial nerve palsies is rare. We report a case of an internal carotid artery dissection manifesting as isolated XII (hypoglossal) cranial nerve palsy.
RESUMO
BACKGROUND: Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) owing to the tau intron 10 + 16 mutation usually occurs with a prototypical frontotemporal dementia phenotype with prominent disinhibition and affective disturbances. OBJECTIVE: To report a new FTDP-17 pedigree with the tau intron 10 + 16 mutation demonstrating a clinical phenotype suggestive of Alzheimer disease. DESIGN: Case reports. SETTING: Regional neuroscience centers in northwest England. Patients We examined 4 members of a kindred in which 8 individuals were affected in 3 generations. RESULTS: All 4 patients reported memory difficulty. Marked anomia was also present, but behavioral disturbances were conspicuously absent in the early stages of disease. All patients had an initial clinical diagnosis of Alzheimer disease. No mutations were found in the presenilin or amyloid precursor protein genes. Pathologic examination of the proband showed features typical of FTDP-17, and tau gene analysis showed the intron 10 + 16 mutation. CONCLUSIONS: This pedigree illustrates the phenotypic variability of tau intron 10 + 16 mutations. In pedigrees with a clinical diagnosis of Alzheimer disease but without presenilin or amyloid precursor protein gene mutations, tau gene mutations may be found.
Assuntos
Doença de Alzheimer/psicologia , Demência/genética , Demência/psicologia , Íntrons/genética , Proteínas tau/genética , Adulto , Atrofia , Córtex Cerebral/patologia , Progressão da Doença , Família , Evolução Fatal , Feminino , Hipocampo/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Mutação/fisiologia , Testes Neuropsicológicos , LinhagemRESUMO
A 38-year-old woman seropositive for hepatitis C developed headache, sensorineural hearing loss, encephalopathy, and retinal arteriolar occlusions. Brain MRI showed signal abnormalities in the basal ganglia and corpus callosum. These features are consistent with Susac syndrome, a multifocal central nervous system disorder of uncertain etiology. This is the first reported case of Susac syndrome in a patient with hepatitis C.
Assuntos
Doenças do Sistema Nervoso Central/complicações , Perda Auditiva Neurossensorial/etiologia , Hepatite C Crônica/complicações , Oclusão da Artéria Retiniana/etiologia , Adulto , Gânglios da Base/patologia , Doenças do Sistema Nervoso Central/diagnóstico , Corpo Caloso/patologia , Diagnóstico Diferencial , Feminino , Seguimentos , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Oclusão da Artéria Retiniana/diagnóstico , SíndromeRESUMO
This study examined the full range of effects associated with "semantic access impairment" - namely, refractory variables (semantic relatedness, speed of presentation and item repetition), inconsistency, the absence of frequency effects and facilitation by cues - in a series of stroke patients with multimodal semantically impairment. By investigating all of these factors in a group of patients who were not specifically selected to show "access" effects, we were able to establish (1) whether this pattern is a common consequence of infarcts that produce semantic impairment and (2) if these symptoms co-occur. All of the patients showed effects of cueing and an absence of frequency effects in comprehension. Patients whose brain damage included the left inferior prefrontal cortex (LIPC) also showed marked effects of refractory variables; in contrast, two patients with temporal-parietal but not frontal lesions were less sensitive to these variables. Parallel results were obtained for cyclical naming and word-picture matching tasks suggesting that the LIPC plays a role in semantic selection as well as lexical retrieval. Rapid presentation and item repetition is likely to have increased the selection demands in both of these tasks in a similar fashion. Unlike patients with classical "semantic access impairment", our semantically impaired stroke patients showed significant test-retest consistency, indicating that their difficulties did not result from an unpredictable failure of semantic access--instead, their deficits were interpreted as arising from failures of semantic control.
Assuntos
Afasia/fisiopatologia , Rememoração Mental/fisiologia , Tempo de Reação/fisiologia , Semântica , Acidente Vascular Cerebral/complicações , Adulto , Idoso , Análise de Variância , Afasia/etiologia , Sinais (Psicologia) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Tempo , Comportamento VerbalRESUMO
This 80-year-old woman presented with acute breathing difficulty during neck flexion when cyanosis also developed. The only potential causes were detected on cervical magnetic resonance imaging: two large anterior cervical osteophytes compressing the retropharyngeal space. Excision of these osteophytes resulted in resolution of the symptoms.
Assuntos
Obstrução das Vias Respiratórias/etiologia , Vértebras Cervicais , Laringismo/etiologia , Osteofitose Vertebral/complicações , Idoso de 80 Anos ou mais , Obstrução das Vias Respiratórias/diagnóstico , Obstrução das Vias Respiratórias/cirurgia , Vértebras Cervicais/patologia , Vértebras Cervicais/cirurgia , Feminino , Movimentos da Cabeça/fisiologia , Humanos , Laringismo/diagnóstico , Laringismo/cirurgia , Imageamento por Ressonância Magnética , Osteofitose Vertebral/diagnóstico , Osteofitose Vertebral/cirurgiaAssuntos
Anestésicos Combinados/efeitos adversos , Óxido Nitroso/efeitos adversos , Oxigênio/efeitos adversos , Doenças da Medula Espinal/induzido quimicamente , Adulto , Analgesia Controlada pelo Paciente/efeitos adversos , Anestésicos Inalatórios/efeitos adversos , Interações Medicamentosas , Marcha Atáxica/induzido quimicamente , Humanos , Masculino , Dor Pós-Operatória/prevenção & controle , Deficiência de Vitamina B 12/induzido quimicamenteAssuntos
Transtornos da Linguagem/etiologia , Transtornos da Linguagem/fisiopatologia , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/fisiopatologia , Diagnóstico Diferencial , Humanos , Doenças Neurodegenerativas/complicações , Fenótipo , Valor Preditivo dos Testes , Sensibilidade e EspecificidadeRESUMO
Both Parkinson's disease (PD) and dementia with Lewy bodies (DLB) share a common neuropathological marker, the presence of Lewy bodies in brain stem and basal forebrain nuclei. DLB, in addition, is associated with Lewy bodies in the neocortex, and, in it's more common form, with Alzheimer-type pathological markers, particularly amyloid plaques. Published neuropsychological studies have focused on the differential profiles of DLB and Alzheimer's disease (AD). However, it is presently unclear whether DLB should be classified as a variant of AD or PD. In the present study we compare a healthy age-matched control group with three groups of patients, one with DLB, and two with PD. One of the PD groups was early in the course (PD-E) and the second, more advanced group (PD-A), was matched on severity of cognitive impairment with the DLB group. The results show that DLB was associated with a different pattern of neuropsychological impairment than the PD-A group, particularly in tests believed to be mediated by prefrontal cortical regions.