RESUMO
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
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
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
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
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
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
Among 1400 muscle biopsies, we found 16 cases with rimmed vacuoles whose diagnosis were sporadic inclusion body myositis (IBM) (4 cases), juvenile spinal muscular atrophy (6 cases), distal myopathies (3 cases), limb-girdle muscular dystrophy (2 cases), and peripheral neuropathy (1 case). Monoclonal antibodies reactive for T lymphocytes and subsets, B lymphocytes, macrophages, natural killer cells, immunoglobulins, and complement were used to analyze the inflammatory infiltrate. The analysis was quantitative and according to the site of accumulation (interstitial, endomysial, and perivascular). The immunocytochemical analysis showed CD8+ lymphocytes in the interstitial in most cases, occasionally inside of muscle fibers, and rarely in the perivascular region. The IBM cases had an increased number of CD8+ lymphocytes comparing with the other diseases. CD8+/CD4+ ratio was increased in IBM compared with the other diseases. Macrophages were frequent in IBM, distal myopathy, and one case of limb-girdle muscular dystrophy. Natural killer cells were frequent at interstitial.
Assuntos
Miosite de Corpos de Inclusão/patologia , Doenças Neuromusculares/patologia , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Imuno-Histoquímica , Linfócitos/química , Macrófagos/química , Pessoa de Meia-Idade , Atrofias Musculares Espinais da Infância/patologia , VacúolosRESUMO
Two cases of Lambert-Eaton myasthenic syndrome, in female patients whose neoplasm investigation was negative, are reported. Repetitive stimulation of ulnar nerve showed an incremental response (+187% and +198%). Needle EMG was normal in one of them, however, the other patient showed fibrillation potentials, positive sharp waves, potentials of low amplitude and short duration. The authors discuss the clinical, electrophysiological, and pathological features of the disease, as well as some aspects of the treatment and follow-up of these patients.
Assuntos
Síndrome Miastênica de Lambert-Eaton/patologia , Adulto , Autoanticorpos/sangue , Eletromiografia , Feminino , Humanos , Síndrome Miastênica de Lambert-Eaton/imunologia , Pessoa de Meia-IdadeRESUMO
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.
Assuntos
Ossificação do Ligamento Longitudinal Posterior/complicações , Paraparesia Espástica Tropical/etiologia , Compressão da Medula Espinal , Humanos , Masculino , Pessoa de Meia-Idade , Mielografia , Ossificação do Ligamento Longitudinal Posterior/cirurgia , Medula Espinal/diagnóstico por imagemRESUMO
Merosin alpha 2 chain, an extracellular matrix protein, is deficient in a proportion of patients with classical congenital muscular dystrophy (CMD). A study of clinical, laboratory and histopathological features of 18 patients with CMD was performed in relation to the merosin expression in muscle biopsy. Immunohistochemistry study showed that merosin was deficient in 11 patients and present in 7. None of the 9 merosin-deficient patients evaluated achieved walking. In contrast, 4 of 7 merosin-positive patients achieved independent ambulation. Creatine kinase levels were higher in merosin-deficient patients, but this difference was not statistically significant. Motor nerve conduction study was carried out on 12 children. All 4 merosin-positive patients had normal exams whereas 2 out 8 merosin-deficient patients presented decreased motor nerve conduction velocity. Among 69 histopathological features studied, we did not find any significant difference between merosin-deficient and merosin-positive patients. These results suggest that merosin status evaluation is important in the determination of the prognostic, since merosin-positive patients can achieve independent walking. This study also suggests that there is no relation between absence of merosin and histopathological features.