RESUMO
BACKGROUND AND PURPOSE: A limitation in postoperative monitoring of patients with glioblastoma is the lack of objective measures to quantify residual and recurrent disease. Automated computer-assisted volumetric analysis of contrast-enhancing tissue represents a potential tool to aid the radiologist in following these patients. In this study, we hypothesize that computer-assisted volumetry will show increased precision and speed over conventional 1D and 2D techniques in assessing residual and/or recurrent tumor. MATERIALS AND METHODS: This retrospective study included patients with native glioblastomas with MR imaging performed at 24-48 hours following resection and 2-4 months postoperatively. 1D and 2D measurements were performed by 2 neuroradiologists with Certificates of Added Qualification. Volumetry was performed by using manual segmentation and computer-assisted volumetry, which combines region-based active contours and a level set approach. Tumor response was assessed by using established 1D, 2D, and volumetric standards. Manual and computer-assisted volumetry segmentation times were compared. Interobserver correlation was determined among 1D, 2D, and volumetric techniques. RESULTS: Twenty-nine patients were analyzed. Discrepancy in disease status between 1D and 2D compared with computer-assisted volumetry was 10.3% (3/29) and 17.2% (5/29), respectively. The mean time for segmentation between manual and computer-assisted volumetry techniques was 9.7 minutes and <1 minute, respectively (P < .01). Interobserver correlation was highest for volumetric measurements (0.995; 95% CI, 0.990-0.997) compared with 1D (0.826; 95% CI, 0.695-0.904) and 2D (0.905; 95% CI, 0.828-0.948) measurements. CONCLUSIONS: Computer-assisted volumetry provides a reproducible and faster volumetric assessment of enhancing tumor burden, which has implications for monitoring disease progression and quantification of tumor burden in treatment trials.
Assuntos
Neoplasias Encefálicas/patologia , Meios de Contraste , Glioblastoma/patologia , Imageamento por Ressonância Magnética , Recidiva Local de Neoplasia/patologia , Neuroimagem/métodos , Carga Tumoral , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Residual , Estudos RetrospectivosRESUMO
BACKGROUND: Tandutinib (MLN 518, Millennium Pharmaceuticals, Cambridge, MA) is an orally active multitargeted tyrosine kinase inhibitor that is currently under evaluation for the treatment of glioblastoma and has been used in the treatment of leukemia. In prior clinical and animal studies, a dose-dependent muscular weakness has been observed with this drug, though the etiology of the weakness has not been defined. METHODS: Standard neurophysiologic techniques, including repetitive nerve stimulation, needle EMG, and single-fiber EMG, were used to evaluate patients who developed weakness while being treated with tandutinib and bevacizumab (Avastin, Genentech, South San Francisco, CA) for glioblastoma (NCT00667394). RESULTS: Six patients were observed to develop a reversible weakness that correlated with the administration of the tandutinib. The onset of weakness after starting tandutinib occurred within 3 to 112 days and in less than 15 days in 3 patients. Electrophysiologic studies showed that all patients developed abnormal repetitive nerve stimulation studies. Four patients had short duration motor unit potentials. Two of these patients also had abnormal single-fiber EMG, as did a third patient who did not have standard needle EMG. The clinical and electrophysiologic abnormalities improved with the termination or reduction in the dose of tandutinib. CONCLUSION: These observations suggest that tandutinib is toxic to the neuromuscular junction, possibly by reversibly binding to a molecule on the postsynaptic acetylcholine receptor complex. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that tandutinib 500 mg twice daily induces reversible muscle weakness and electrophysiologic changes consistent with neuromuscular junction dysfunction.
Assuntos
Miastenia Gravis/induzido quimicamente , Junção Neuromuscular/efeitos dos fármacos , Piperazinas/efeitos adversos , Inibidores de Proteínas Quinases/efeitos adversos , Proteínas Tirosina Quinases/antagonistas & inibidores , Quinazolinas/efeitos adversos , Adulto , Idoso , Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais Humanizados , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Bevacizumab , Neoplasias Encefálicas/tratamento farmacológico , Ensaios Clínicos Fase II como Assunto , Esquema de Medicação , Eletromiografia , Feminino , Glioblastoma/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/fisiopatologia , Doenças Neuromusculares/induzido quimicamente , Junção Neuromuscular/fisiopatologia , Piperazinas/administração & dosagem , Inibidores de Proteínas Quinases/administração & dosagem , Quinazolinas/administração & dosagem , SíndromeRESUMO
BACKGROUND: Bevacizumab has recently been approved by the US Food and Drug Administration for recurrent glioblastoma (GBM). However, patterns of relapse, prognosis, and outcome of further therapy after bevacizumab failure have not been studied systematically. METHODS: We identified patients at Memorial Sloan-Kettering Cancer Center with recurrent GBM who discontinued bevacizumab because of progressive disease. RESULTS: There were 37 patients (26 men with a median age of 54 years). The most common therapies administered concurrently with bevacizumab were irinotecan (43%) and hypofractionated reirradiation (38%). The median overall survival (OS) after progressive disease on bevacizumab was 4.5 months; 34 patients died. At the time bevacizumab was discontinued for tumor progression, 17 patients (46%) had an increase in the size of enhancement at the initial site of disease (local recurrence), 6 (16%) had a new enhancing lesion outside of the initial site of disease (multifocal), and 13 (35%) had progression of predominantly nonenhancing tumor. Factors associated with shorter OS after discontinuing bevacizumab were lower performance status and nonenhancing pattern of recurrence. Additional salvage chemotherapy after bevacizumab failure was given to 19 patients. The median progression-free survival (PFS) among these 19 patients was 2 months, the median OS was 5.2 months, and the 6-month PFS rate was 0%. CONCLUSIONS: Contrast enhanced MRI does not adequately assess disease status during bevacizumab therapy for recurrent glioblastoma (GBM). A nonenhancing tumor pattern of progression is common after treatment with bevacizumab for GBM and is correlated with worse survival. Treatments after bevacizumab failure provide only transient tumor control.
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Inibidores da Angiogênese/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Resistencia a Medicamentos Antineoplásicos/efeitos dos fármacos , Glioblastoma/tratamento farmacológico , Adulto , Idoso , Anticorpos Monoclonais Humanizados , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Bevacizumab , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/terapia , Intervalo Livre de Doença , Feminino , Glioblastoma/mortalidade , Glioblastoma/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Recidiva Local de Neoplasia , Prognóstico , Estudos Retrospectivos , Terapia de Salvação , Falha de TratamentoRESUMO
INTRODUCTION: In coil embolization of paraclinoid aneurysms, it is sometimes difficult to introduce and stabilize microcatheter tips in the aneurysms. We report a new technique for shaping microcatheter tips in the coil embolization of paraclinoid aneurysms. METHODS: From May 2007 to May 2008, this new technique was applied to 10 paraclinoid aneurysms undergoing coil embolization. Before coil embolization, 3D rotational angiography was performed, and volume-rendering images were reconstructed. Vinyl-coated handicraft wire was shaped 3-dimensionally to fit full-scale volume-rendering images on the monitor, from the C5 portion of the internal carotid artery to the center of the dome of the aneurysm from various angles. The microcatheter tip was then shaped with steam to fit the vinyl-coated wire. Thereafter, the microcatheter tip was introduced into the aneurysm and coil embolization was performed. RESULTS: Microcatheter tips could be easily shaped and could be introduced smoothly into aneurysms, and were stable during coil embolization. CONCLUSION: This technique is feasible for shaping microcatheter tips precisely for coil embolization of paraclinoid aneurysms.
Assuntos
Dissecação da Artéria Carótida Interna/diagnóstico por imagem , Dissecação da Artéria Carótida Interna/terapia , Cateterismo/instrumentação , Angiografia Cerebral/métodos , Embolização Terapêutica/instrumentação , Imageamento Tridimensional/métodos , Prótese Vascular , Artéria Carótida Interna/diagnóstico por imagem , Artéria Carótida Interna/patologia , Dissecação da Artéria Carótida Interna/patologia , Cateterismo/métodos , Remoção de Dispositivo/métodos , Embolização Terapêutica/métodos , Desenho de Equipamento/métodos , Humanos , Aumento da Imagem/métodos , Processamento de Imagem Assistida por Computador/métodos , Imageamento Tridimensional/instrumentação , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/patologia , Aneurisma Intracraniano/terapia , Cuidados Intraoperatórios , Complicações Intraoperatórias/prevenção & controle , Osso Esfenoide/anatomia & histologia , Osso Esfenoide/cirurgiaRESUMO
OBJECTIVE: To describe the demographics, diagnostic details, therapeutic management, and outcome in patients with primary CNS lymphoma (PCNSL) with ocular involvement. METHODS: A retrospective study of 221 patients was assembled from 16 centers in seven countries. Only HIV-negative, immunocompetent patients with brain and ocular lymphoma were included; none had systemic lymphoma. RESULTS: Median age at diagnosis was 60. Fifty-seven percent were women. Median Eastern Cooperative Oncology Group performance status was 2. Ocular disturbance and behavioral/cognitive changes were the most common presenting symptoms. Diagnosis of lymphoma was made by brain biopsy (147), vitrectomy (65), or CSF cytology (11). Diagnosis of intraocular lymphoma was made by vitrectomy/choroidal/retinal biopsy (90) or clinical ophthalmic examination (141). CSF cytology was positive in 23%. Treatment information was available for 176 patients. A total of 102 received dedicated ocular therapy (ocular radiotherapy 79, intravitreal methotrexate 22, and both 1) in addition to treatment for their brain lymphoma. Sixty-nine percent progressed at a median of 13 months; sites of progression included brain 52%, eyes 19%, brain and eyes 12%, and systemic 2%. Patients treated with local ocular therapy did not have a statistically significant decreased risk of failing in the eyes (p = 0.7). Median progression free survival and overall survival for the entire cohort were 18 and 31 months. CONCLUSION: This is the largest reported series of primary CNS lymphoma (PCNSL) with intraocular involvement. Progression free and overall survival was similar to that reported with PCNSL. Dedicated ocular therapy improved disease control but did not affect overall survival.
Assuntos
Neoplasias do Sistema Nervoso Central/epidemiologia , Comportamento Cooperativo , Neoplasias Oculares/epidemiologia , Linfoma/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias do Sistema Nervoso Central/complicações , Neoplasias do Sistema Nervoso Central/terapia , Neoplasias Oculares/complicações , Neoplasias Oculares/terapia , Feminino , Seguimentos , Humanos , Internacionalidade , Linfoma/complicações , Linfoma/terapia , Masculino , Pessoa de Meia-Idade , Pesquisa/tendências , Estudos Retrospectivos , Taxa de Sobrevida/tendênciasRESUMO
BACKGROUND: Central nervous system fungal infections (FI) are important complications and a cause of mortality in patients who receive hematopoietic stem cell transplantation (HSCT). AIMS: To study the clinical aspects of fungal encephalitis (FE). SETTINGS AND DESIGN: The study was carried out at the HSCT Center of the Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil. MATERIALS AND METHODS: Clinical records and autopsy reports from patients submitted to HSCT with a diagnosis of FE. RESULTS: Twelve patients were diagnosed with FE presenting with lowered level of consciousness, hemiparesis and seizures. We were able to identify two subgroups regarding susceptibility to FE: (1) patients with early onset FI and severe leucopenia, and (2) patients with later onset FI with graft-versus-host disease using immunosuppressive drugs. Eleven of the patients died directly due to the neurological complication, all had post-mortem confirmation of the diagnosis of FI. CONCLUSIONS: These clinical, paraclinical and temporal patterns may provide the opportunity for earlier diagnosis and interventions.
Assuntos
Infecções Fúngicas do Sistema Nervoso Central/etiologia , Encefalite/complicações , Doença Enxerto-Hospedeiro/etiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Condicionamento Pré-Transplante/efeitos adversos , Adolescente , Adulto , Brasil , Infecções Fúngicas do Sistema Nervoso Central/complicações , Infecções Fúngicas do Sistema Nervoso Central/imunologia , Criança , Pré-Escolar , Encefalite/imunologia , Feminino , Doença Enxerto-Hospedeiro/imunologia , Doença Enxerto-Hospedeiro/mortalidade , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Adulto JovemRESUMO
A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.
Assuntos
Mutação/genética , Proteínas do Tecido Nervoso/genética , Doença de Parkinson/genética , Adulto , Idade de Início , Idoso , Brasil , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Reação em Cadeia da Polimerase , Mapeamento por Restrição , Sinucleínas , alfa-SinucleínaRESUMO
We retrospectively analyzed the epidemiological features of 164 out-clinic patients with a first-onset stroke between 15 and 49 years old. Ischemic stroke occurred in 141 patients, hemorrhagic stroke in 16 patients, and venous thrombosis in 7 patients. Forty-eight percent of ischemic strokes were atherothrombotic, but no etiology was found in 32% of patients with ischemic stroke. Systemic arterial hypertension was the most frequent etiology in the hemorrhagic stroke group. The most frequent risk factors were systemic arterial hypertension, smoking, hypercholesterolemia, alcoholism and diabetes mellitus. Although stroke in young adults deserves some specific etiological investigation, we found that ordinary risk factors such as hypertension, tobacco use, hypercholesteremia and diabetes were prevalent in our population. It seems that prevention campaigns should be the target of our work.
Assuntos
Acidente Vascular Cerebral/epidemiologia , Adolescente , Adulto , Brasil/epidemiologia , Feminino , Humanos , Embolia e Trombose Intracraniana/complicações , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/etiologiaRESUMO
Autosomal recessive hereditary spastic paraplegia (AR-HSP) associated with thin corpus callosum was recently described in Japan, and most families were linked to chromosome 15 q13-15. We report two patients from two different Brazilian families with progressive gait disturbance starting at the second decade of life, spastic paraparesis, and mental deterioration. One patient presented cerebellar ataxia. Magnetic resonance imaging (MRI) of the head of both patients showed a thin corpus callosum. AR-HSP with a thin corpus callosum is a rare disorder, mainly described in Japanese patients. We found only 4 Caucasian families with AR-HSP with thin corpus callosum described in the literature. Further studies including additional Caucasian families of AR-HSP with thin corpus callosum are required to delineate the genetic profile of this syndrome in occidental countries.
Assuntos
Agenesia do Corpo Caloso , Paraplegia Espástica Hereditária/genética , Adolescente , Brasil , Corpo Caloso/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Paraplegia Espástica Hereditária/diagnóstico , Paraplegia Espástica Hereditária/patologia , População BrancaRESUMO
Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients. We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that presented parkinsonism. She had an expanded allele with 66 CAG repeats and a normal allele with 22 repeats in the gene of MJD. MJD should be considered in the differential diagnosis of autosomal dominant complicated HSP. A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD.
Assuntos
Doença de Machado-Joseph/genética , Paraplegia Espástica Hereditária/genética , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/diagnóstico , Linhagem , Fenótipo , Paraplegia Espástica Hereditária/complicaçõesRESUMO
Acute cerebellitis can occur in association with varicella-zoster virus, enterovirus, mumps, mycoplasma, and other infective organisms. Acute cerebellitis is a rare complication of Epstein-Barr virus (EBV) infection. We report the case of a 21-year-old woman with a 12-day history of nausea and vomiting, gait and limbs ataxia, myoclonus, tremor of head and all four limbs, opsoclonus and cutaneous rash. Anti-EBV IgG and IgM antibodies against antiviral capsid were positive and anti-EBV against virus-associated nuclear antigen was also positive. EBV infection in association with neurological findings can occur without the classic signs and symptoms of infectious mononucleosis.
Assuntos
Doenças Cerebelares/virologia , Encefalite Viral/complicações , Infecções por Vírus Epstein-Barr/complicações , Herpesvirus Humano 4/isolamento & purificação , Doença Aguda , Adulto , Anti-Inflamatórios/uso terapêutico , Anticorpos Antivirais/isolamento & purificação , Doenças Cerebelares/tratamento farmacológico , Dexametasona/uso terapêutico , Encefalite Viral/tratamento farmacológico , Infecções por Vírus Epstein-Barr/tratamento farmacológico , Feminino , Herpesvirus Humano 4/imunologia , HumanosRESUMO
Charcot described many neurological diseases in the 19th century, particularly in movement disorders. Charcot contributed in the clinical description of Parkinson's disease, and introduced its first pharmacological treatment. He also studied the hyperkinesias, e.g. of Tourette syndrome, differential diagnosis of tremors, dystonias, choreas and startle disease. Marsden, who died recently, was an exponent in the study of Movement Disorders, with many publications in this field in the 20th century. His most important contributions are definitions and classifications of movement disorders, such as Parkinson's disease, dystonia, myoclonus, essential tremor, the description of the syndromes "Painful Legs Moving Toes", "Gait Ignition Failure" and "Primary Writing Tremor". The contributions of Charcot in the 19th century and Marsden in the 20th century to the movement disorders allow us to conclude that both of them were the most representative icons in this field in the past two centuries.
Assuntos
Transtornos dos Movimentos/história , História do Século XIX , História do Século XX , HumanosRESUMO
We report on the clinical course and histopathologic muscle alterations of five patients diagnosed with neurosarcoidosis, who underwent biopsy due to their muscle manifestations. The five patients were females and only one was less than 40 years of age. Proximal muscle weakness was presented by all and only two patients complained of myalgia. Only normal values of serum muscle enzymes were detected. Electromyography revealed diverse findings such as normal, myopathic and neuropathic patterns. Granuloma was not present in one muscle biopsy. Two patients thoroughly recovered by taking only prednisone and one patient required a methotrexate addition for 3 months before becoming asymptomatic. The other two patients received azathioprine, one due to steroid side effects but without a satisfactory evolution, and the other to strengthen the prednisone régime, with excellent results.
Assuntos
Doenças do Sistema Nervoso Central/patologia , Doenças Musculares/patologia , Sarcoidose/patologia , Adolescente , Adulto , Anti-Inflamatórios/uso terapêutico , Biópsia , Doenças do Sistema Nervoso Central/tratamento farmacológico , Doenças do Sistema Nervoso Central/fisiopatologia , Feminino , Humanos , Pessoa de Meia-Idade , Debilidade Muscular/diagnóstico , Doenças Musculares/fisiopatologia , Prednisona/uso terapêutico , Sarcoidose/tratamento farmacológico , Sarcoidose/fisiopatologiaRESUMO
The result of combining the ultrasound Coded Excitation method and an ultrasound contrast agent (UCA), the Coded Harmonic Angio (CHA) technique provides arterial images with exceptional spatial, temporal, and contrast resolution that are comparable to those produced by conventional digital subtraction angiography. The authors report on their experience with intraoperative ultrasound arteriography performed using the transdural CHA technique in three patients: one harboring a meningioma, another with a middle cerebral artery aneurysm, and a third with an arteriovenous malformation. The present study demonstrates how intraoperative cerebral ultrasound arteriography can be applied to assess the adequacy of neurovascular procedures without the presence of an experienced operator.
Assuntos
Artérias/diagnóstico por imagem , Aneurisma Intracraniano/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Neoplasias Meníngeas/diagnóstico por imagem , Meningioma/diagnóstico por imagem , Idoso , Angiografia Cerebral , Meios de Contraste , Feminino , Humanos , Aneurisma Intracraniano/diagnóstico , Malformações Arteriovenosas Intracranianas/diagnóstico , Período Intraoperatório , Angiografia por Ressonância Magnética , Masculino , Neoplasias Meníngeas/diagnóstico , Meningioma/diagnóstico , Pessoa de Meia-Idade , Ultrassonografia/métodosRESUMO
We report the case of a 3-(1/2)-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzymes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.
Assuntos
Contratura/congênito , Síndrome de Marfan/genética , Pré-Escolar , Contratura/complicações , Éxons , Feminino , Humanos , Síndrome de Marfan/complicações , Atrofia Muscular/complicações , Atrofia Muscular/congênito , Atrofia Muscular/patologiaRESUMO
UNLABELLED: Patients with dermatomyositis (DM) or polymyositis (PM) were studied retrospectively. The patients were divided into four groups: definite PM 24, probable PM 19, definite DM 34 and mild-early DM 25 cases. PM patients complained more often proximal muscle weakness [p <0.01]. DM patients complained more arthralgia [p <0.05], dysphagia [p <0.03] and weight loss [p <0.04]. Five patients had a malignant neoplasm and 9 had other connective-tissue disease. DM presented higher ESR than PM [p <0.002]. PM presented more significant increase in creatine kinase (CK) [p <0.02] and in alanine aminotransferase (ALT) [p <0.001] levels. Electromyography showed myopathic pattern in 76%. Muscle biopsy was the definitive test. Perifascicular atrophy was more frequent in definite DM than in mild-early DM group [p <0.03]. CONCLUSION: A small association with connective-tissue diseases and neoplasms was found. DM and PM are clinically different. DM presents systemic involvement affecting the skin, developing more severe arthralgia, dysphagia and weight loss and presenting higher values of ESR. PM presents a restricted and more significant involvement of muscles generating more weakness complaints and higher levels of serum muscle enzymes.
Assuntos
Dermatomiosite/diagnóstico , Polimiosite/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alanina Transaminase/sangue , Biópsia , Sedimentação Sanguínea , Criança , Pré-Escolar , Creatina Quinase/sangue , Dermatomiosite/sangue , Dermatomiosite/complicações , Eletromiografia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Polimiosite/sangue , Polimiosite/complicações , Estudos RetrospectivosRESUMO
We report the case of a 37-year-old man with clinical and electrophysiological features of hereditary slow-channel syndrome (SCS) and antibodies against acetylcholine receptors (AChR-Abs). He presented with weakness of shoulder and hand muscles. A supramaximal single stimulus to the motor nerves disclosed a double compound muscle action potential (CMAP). Repetitive stimulation of ulnar, suprascapular, and median nerves showed a CMAP decrement greater than 10%. The patient responded to pyridostigmine. This report confirms the importance of AChR-Ab titers in suspected cases of hereditary SCS because patients with positive AChR-Abs may have a better response to available treatments.
Assuntos
Músculos/fisiopatologia , Síndromes Miastênicas Congênitas/fisiopatologia , Adulto , Humanos , Masculino , Condução Nervosa/fisiologiaRESUMO
Neurofibromatosis type 1 (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. Neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.
Assuntos
Transtornos Cerebrovasculares/etiologia , Neurofibromatose 1/complicações , Platibasia/etiologia , Transtornos Cerebrovasculares/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Moyamoya , Neurofibromatose 1/diagnóstico , Platibasia/diagnóstico , SíndromeRESUMO
True neurogenic thoracic outlet syndrome is caused by compression of the lower trunk of the brachial plexus usually by a cervical rib, fibrous band or an elongated transverse process of C7. We describe two cases of female patients (23 and 19 years old) with pain in the right superior limb and progressive muscular weakness and atrophy of the intrinsic muscles of hand. Electrodiagnostic studies showed reduced amplitude of compound muscle action potential of median nerve and decreased amplitude of ulnar sensory nerve action potential. Motor and sensory nerve conduction velocities were normal in both patients. Needle electromyography were findings compatible with chronic denervation in the intrinsic muscles of the right hand of both patients. Radiological investigation showed cervical ribs in one case and elongated transverse process of C7 in the other. A discussion about the clinical and electrophysiological features and the treatment of the syndrome was performed.
Assuntos
Síndrome do Desfiladeiro Torácico/diagnóstico , Adulto , Diagnóstico Diferencial , Eletromiografia , Feminino , Humanos , Atrofia Muscular/patologia , Condução Nervosa/fisiologia , Síndrome do Desfiladeiro Torácico/patologia , Síndrome do Desfiladeiro Torácico/fisiopatologiaRESUMO
Ossification of the posterior longitudinal ligament (OPLL) is an uncommon cause of compressive myelopathy in the Caucasian population. A case of spastic paraparesis in a Caucasian man whose radiological investigation showed OPLL is presented. The radiographs of the cervical spine showed a strip of bony density posterior to the vertebral bodies, extending from C2 to T1. Computerized tomography (CT) and CT myelography showed OPLL at the same level. Magnetic resonance showed an area of increased signal on T2-weighted sequences at C7-T1 level suggestive of myelomalacia. The patient underwent an open-door laminoplasty (C2 to C7) with improvement of the paraparesis. OPLL should be included in the differential diagnosis of cervical myelopathy. It can be easily detected by plain radiographs and CT of the cervical spine. A review of the clinical and radiological features and the treatment of OPLL is presented.