RESUMO
A 50 yr old man presented with meningitis 163 days following aortic valve replacement for congenital bicuspid aortic stenosis. One week later he died of intracerebral hemorrhage and autopsy revealed fungal prosthetic valve endocarditis. Colonies of branching septate hyphae were adherent to the oculomotor nerves and left posterior communicating artery. This pattern of fungal basal meningeal involvement complicating prosthetic valve endocarditis has not been previously described.
Assuntos
Estenose da Valva Aórtica/cirurgia , Hemorragia Cerebral/etiologia , Endocardite/etiologia , Próteses Valvulares Cardíacas/efeitos adversos , Meningite Fúngica/etiologia , Infecções Relacionadas à Prótese/etiologia , Hemorragia Cerebral/patologia , Endocardite/microbiologia , Humanos , Masculino , Meningite Fúngica/microbiologia , Pessoa de Meia-IdadeRESUMO
We report the case of a 60-year-old man who presented with a mononeuritis multiplex-type illness, beginning cranially and then sequentially involving peripheral nerves in all four limbs and torso. Despite extensive investigation, including multiple lumbar punctures and tissue biopsies, the diagnosis was not made until his death 10 months after presentation. Post mortem revealed lymphocytic infiltration of multiple peripheral nerves and radicules with minimal central nervous system involvement, consistent with neurolymphomatosis. Except for the pericardium, there was no other evidence of systemic lymphoma. Recent similar case reports highlight the value of magnetic resonance imaging of plexi and peripheral nerves, which may increase the chance of an antemortem diagnosis in this typically elusive disorder.
RESUMO
An eponymous lecture at the Australian and New Zealand Association of Neurologists Annual Scientific Meeting commemorates E. Graeme Robertson (1903-75), and some neurologists will know that particular Australian practices in clinical neurology, so far as they exist, have origins in his career. This is a historical article on the literary record of a man who had his own sense of history--an affinity with the past as well as an awareness of future generations of readers. He wrote authoritative texts on pneumoencephalography before new technology made it obsolete, and he produced a series of books on decorative architectural cast iron in Australian cities. A talent for visual interpretation seems to have drawn him to both of these topics; a common theme is contrast between light and dark, which is expatiated in images and in clear, well-written prose in his publications. We review his medical writings, including some largely forgotten principles of cerebrospinal fluid physics that he discovered when researching pneumoencephalography. We also explore his obsession with cast iron--its architectural historical significance, his techniques for photographing it, and some of the ways that it related to his life's work as a clinical neurologist.
Assuntos
Arquitetura/história , Neurologia/história , Austrália , História do Século XX , Humanos , Doenças do Sistema Nervoso/história , Pneumoencefalografia/históriaRESUMO
We report a 73-year-old man presenting with bilateral leg numbness and weakness. Three spinal dural arteriovenous fistulae (SDAVF) were found after clinical deterioration post lumbar puncture (LP). This patient highlights the difficulties in the diagnosis and management of SDAVF, and the risks of LP.
Assuntos
Malformações Vasculares do Sistema Nervoso Central/complicações , Malformações Vasculares do Sistema Nervoso Central/fisiopatologia , Isquemia do Cordão Espinal/etiologia , Isquemia do Cordão Espinal/fisiopatologia , Medula Espinal/irrigação sanguínea , Punção Espinal/efeitos adversos , Idoso , Aracnoide-Máter/irrigação sanguínea , Aracnoide-Máter/fisiopatologia , Malformações Vasculares do Sistema Nervoso Central/patologia , Pressão do Líquido Cefalorraquidiano/fisiologia , Meios de Contraste , Craniotomia , Progressão da Doença , Edema/diagnóstico por imagem , Edema/etiologia , Edema/fisiopatologia , Embolização Terapêutica , Humanos , Doença Iatrogênica/prevenção & controle , Laminectomia , Masculino , Paraparesia/etiologia , Flebografia/normas , Cuidados Pré-Operatórios/normas , Fluxo Sanguíneo Regional/fisiologia , Medula Espinal/patologia , Medula Espinal/fisiopatologia , Isquemia do Cordão Espinal/prevenção & controle , Espaço Subaracnóideo/irrigação sanguínea , Espaço Subaracnóideo/fisiopatologia , Bexiga Urinaria Neurogênica/etiologia , Veias/anormalidades , Veias/fisiopatologiaRESUMO
A 48-year-old woman with histologically proven pulmonary sarcoidosis presented with congestive heart failure. Two dimensional echocardiography showed a peculiarly ragged appearance at the left ventricular apex which was confirmed on left ventriculography. This echocardiographic finding has not been previously described in cardiac sarcoidosis.
Assuntos
Cardiomiopatias/diagnóstico , Ecocardiografia , Imagem do Acúmulo Cardíaco de Comporta , Sarcoidose/diagnóstico , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
OBJECTIVES: To examine the degree of hippocampal atrophy in patients with temporal lobe epilepsy and proved hippocampal sclerosis to determine whether or not patients with febrile seizures have more severe hippocampal atrophy. To determine whether or not there is a relation between age of seizure onset, duration of temporal lobe epilepsy, or seizure frequency, and severity of hippocampal atrophy. METHODS: Hippocampal volumes were measured from volumetrically acquired MR images in 77 consecutive surgical patients with temporal lobe epilepsy (37 febrile seizures (FS)+, 40 FS-) with proved hippocampal sclerosis, and compared with 98 controls. RESULTS: Ipsilateral and contralateral hippocampal volumes were not significantly different between the FS+ and FS- groups. There was no difference in the age of onset of habitual seizures, duration of epilepsy, or age at the time of surgery, between these groups. No clinically significant correlations were found between hippocampal volumes and age of onset of first non-febrile seizure, duration of temporal lobe epilepsy, or complex partial and secondarily generalised seizure frequency, in patients with and without febrile seizures. CONCLUSIONS: Although febrile seizures was associated with hippocampal sclerosis in 48% of patients in this surgical series, the degree of MRI determined hippocampal atrophy was not related to a history of such seizures. The results do not support the view that febrile seizures cause more severe hippocampal sclerosis and are consistent with the hypothesis that hippocampal sclerosis is a pre-existing abnormality.
Assuntos
Encefalopatias/patologia , Epilepsia do Lobo Temporal/patologia , Epilepsia do Lobo Temporal/fisiopatologia , Hipocampo/patologia , Convulsões Febris/fisiopatologia , Adulto , Idade de Início , Análise de Variância , Atrofia/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Esclerose/patologia , Convulsões Febris/patologiaRESUMO
OBJECTIVE: Although amygdala abnormalities are sometimes suspected in "imaging-negative" patients with video EEG confirmed unilateral focal epilepsy suggestive of temporal lobe epilepsy (TLE), amygdala asymmetry is difficult to assess visually. This study examined a group of "imaging-negative" TLE patients, estimating amygdala volumes, to determine whether cryptic amygdala lesions might be detected. METHODS: Review of video EEG monitoring data yielded 11 patients with EEG lateralised TLE and normal structural imaging. Amygdala volumes were estimated in this group, in 77 patients with pathologically verified hippocampal sclerosis (HS), and in 77 controls. RESULTS: Seven of 11 "imaging-negative" cases had both significant amygdala asymmetry and amygdala enlargement, concordant with seizure lateralisation. Although significant amygdala asymmetry occurred in 35 of 77 HS patients, it was never attributable to an abnormally large ipsilateral amygdala. Compared with patients with HS, patients with amygdala enlargement were less likely to have suffered secondarily generalised seizures (p<0.05), and had an older age of seizure onset (p<0.01). CONCLUSION: Abnormal amygdala enlargement is reported in seven cases of "imaging-negative" TLE. Such abnormalities are not observed in patients with HS. It is postulated that amygdala enlargement may be attributable to a developmental abnormality or low grade tumour. It is suggested that amygdala volumetry is indicated in the investigation and diagnosis of "imaging-negative" TLE.
Assuntos
Tonsila do Cerebelo/anormalidades , Tonsila do Cerebelo/fisiologia , Epilepsia do Lobo Temporal/fisiopatologia , Adulto , Tonsila do Cerebelo/crescimento & desenvolvimento , Eletroencefalografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
We have identified a new pathogenic mechanism for an inherited muscular dystrophy in which functional haploinsufficiency of the extracellular matrix protein collagen VI causes Bethlem myopathy. The heterozygous COL6A1 mutation results in a single base deletion from the mRNA and a premature stop codon. The mutant mRNA is unstable, subject to nonsense-mediated mRNA decay, and is almost completely absent both from patient fibroblasts and skeletal muscle, resulting in haploinsufficiency of the alpha1(VI) subunit and reduced production of structurally normal collagen VI. This is the first example of a muscular dystrophy caused by haploinsufficiency of a structural protein or member of the dystrophin-glycoprotein complex, and identifies collagen VI as a critical contributor to cell-matrix adhesion in skeletal muscle.