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Background: Unlike many other central nervous system (CNS) tumors, the surgical management of primary central nervous system lymphomas (PCNSL) is traditionally limited by diagnostic biopsy. Studies that predate the use of modern neurosurgical techniques have reported a prohibitive operative morbidity for this surgery. These early experiences have dictated the non-surgical management of PCNSL, whereas resection for cytoreduction is a mainstay of treatment in other CNS malignancies. Recent studies have suggested that craniotomy with the goal of cytoreduction might be associated with a favorable overall and progression-free survival for some patients with PCNSL. To challenge the traditional non-surgical paradigm, it is essential to first investigate the safety of resection for PCNSL. Methods: To determine the operative morbidity of resection for this disease, we performed a population-based assessment of complications using the Nationwide Inpatient Sample (NIS) database for the years 1998-2013 for biopsies and open craniotomies for PCNSL and other brain tumors. Results: Among 95 patients who underwent biopsy and 34 patients who underwent craniotomy, we found no significant difference in complication rates between craniotomy for resection and biopsy procedures for PCNSL (23.16% vs. 20.59%). The types of complications differ between diagnoses, with the PCNSL cohort suffering mainly medical complications and the non-PCNSL cohort suffering mainly from neurological complications. Conclusions: These findings support the safety of craniotomies in PCNSL, and help provide a rationale for future prospective studies to evaluate the safety and efficacy of resection for this disease.

BACKGROND: Blepharospasm (BS) is a form of central focal dystonia recently associated with psychiatric disorders, particularly obsessive and compulsive symptoms. Hemifacial spasm (HFS) represents a focal myoclonus with peripheral origin in the facial nerve. OBJECTIVE: To determine the frequency of obsessive and compulsive symptoms in patients with BS in comparison with patients with HFS. METHODS: 30 patients from each group (BS and HFS) followed by the botulinum toxin clinic at the HC-UFPR were evaluated using a structured interview based on the DSM-IV criteria and the Yale-Brown scale. RESULTS: were compared by the mean two-tailed t test. RESULTS: We found obsessive or compulsive symptoms in 20 (66.6%) patients with BE and 21 (70%) with HFS. Yale-Brown scale scores for each group were higher among BS patients; however, diferences were not statisticaly significant. CONCLUSION: Our study did not show a significant diference in the comparison of the prevalence of obsessive and compulsive symptoms among patients with BS and HFS. FUNDAMENTOS: Blefaroespasmo (BE) é uma forma de distonia focal central recentemente relacionada a desordens psiquiátricas, particularmente sintomas obsessivos e compulsivos. Espasmo hemifacial (EHF) representa uma forma de mioclonia com origem periférica, no nervo facial. OBJETIVO: Determinar a frequência de sintomas obsessivos e compulsivos em pacientes com BE em comparação com pacientes com EHF. MÉTODO: Foram avaliados 30 pacientes de cada grupo acompanhados no ambulatório de toxina botulínica do HC-UFPR, através de entrevista estruturada baseada nos critérios do DSM-IV e pela escala de Yale-Brown. Os resultados foram comparados pela média do teste de t de Student bicaudal. RESULTADOS: Observaram-se sintomas obsessivos ou compulsivos em 20 (66,6%) pacientes com BE e 21 (70%) pacientes com EHF. Os escores da escala de Yale-Brown em cada grupo foram maiores entre aqueles com BE, porém, as diferenças não foram estatisticamente significativas. CONCLUSÃO: Nosso estudo não evidenciou diferença significativa na comparação de prevalência de sintomas obsessivos e compulsivos entre pacientes com BE e EHF.

Ankylosing spondylitis (AS) is an inflammatory disorder of unknown cause that primarily affects the axial skeleton. Neurological manifestations of AS are usually related to spinal deformities. Previous studies of the paraspinal muscles of AS patients showed muscle fiber atrophy, and core fibers. On the other hand, central core disease (CCD) is a genetic condition that primarily involves the skeletal muscles, but can present articular deformities secondary to muscular weakness. We report the case of a 45-year-old man with clinical and radiological diagnosis of AS and proximal muscular weakness in the lower limbs. Needle electromyography showed myopathic features and nerve conduction study was normal. Muscle biopsy disclosed almost complete predominance of type-1 fibers, and fibers with central cores. This is the first report of AS and CCD. Whether central core myopathy is coincidental or a new association with AS is discussed.

Realizamos análise epidemiológica de 164 pacientes com AVC, cujo primeiro episódio ocorreu entre 15 e 49 anos de idade através de um estudo retrospectivo de pacientes ambulatoriais. O principal tipo de apresentação foi AVC isquêmico (AVCI) em 141 pacientes, ocorrendo AVC hemorrágico (AVCH) em16 casos e 7 pacientes com trombose venosa. A presença de fatores de risco aterotrombóticos foi prevalente, em 48,22% dos pacientes com AVCI sendo que a hipertensão arterial sistêmica (HAS), nos casos de AVCH, foi a etiologia mais frequente. Em 32% dos casos não se pode determinar a sua causa. Embora a população jovem possua determinantes diferentes e geralmente deva ter uma investigação etiológica mais abrangente, no grupo estudado foram prevalentes os fatores de risco conhecidos e potencialmente controláveis, sugerindo que campanhas de prevenção e detecção precoce devam ser incentivados.

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 enzimes 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.

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.

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.

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.

A síndrome do desfiladeiro torácico neurogênica verdadeira é entidade rara que resulta da compressão ou estiramento do tronco inferior do plexo braquial por costela cervical, banda fibrosa ou processo transverso da sétima vértebra cervical alongado. Descrevemos os casos de duas mulheres (23 e 19 anos de idade) com história de dor em membro superior direito, fraqueza e atrofia progressiva da musculatura intrínseca da mão. Estudos eletrofisiológicos mostraram diminuição da amplitude do potencial de ação muscular composto do nervo mediano e diminuição da amplitude do potencial de ação do nervo ulnar sensitivo. As velocidades de condução nervosa motora e sensitiva foram normais em ambos os casos. Eletromiografia de agulha mostrou desinervação crônica da musculatura intrínseca da mão direita de ambas as pacientes. Investigação radiológica mostrou costelas cervicais em um caso e processos transversos da sétima vértebra cervical alongados no outro. São revisados os aspectos clínicos, eletrofisiológicos e tratamento da síndrome. 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.

Encontramos 16 casos com vacúolos marginados entre 1400 biópsias musculares cujo diagnóstico final foi miosite com corpos de inclusão citoplasmática esporádica (MCIC) (4 casos), atrofia muscular espinhal juvenil (6 casos), miopatias distais (3 casos), distrofia das cinturas pélvica e escapular (2 casos) e neuropatia periférica (1 caso). Foram utilizados anticorpos monoclonais contra linfócitos T totais e subpopulações (CD4+ e CD8+), linfócitos B, macrófagos, células exterminadoras naturais (NK), imunoglobulinas e porção C3 do complemento. A análise foi quantitativa e de acordo com o local de acúmulo (interstício, intra-fibra e perivascular). Linfócitos CD8+ foram encontrados no interstício na maioria dos casos, sendo menos comuns dentro das fibras musculares e raros no espaço perivascular. Os casos de MCIC apresentaram maior número de linfócitos CD8+ se comparados às outras doenças. A proporção de células CD8+/CD4+ foi maior na MCIC do que nas outras doenças. Existiam macrófagos em grande proporção na MCIC, miopatias distais e em um dos casos de distrofia das cinturas pélvica e escapular. Células NK foram frequentes no interstício nos casos de MCIC e mais raras nas outras doenças. Houve maior depósito de imunoglobulinas e complemento nos casos de MCIC do que nas demais doenças. O grande número de células CD8+ e a relação CD8+/CD4+ podem auxiliar no diagnóstico diferencial da MCIC de outras doenças neuromusculares com vacúolos marginados.

Frey's syndrome is a phenomenon of hemifacial flushing and sweating after gustatory stimulus, usually secondary to surgical trauma over the parotid gland, although other injury mechanisms may be seen. It is accepted as a result of aberrant regeneration of facial autonomic nerve fibers. Treatment evolved from ineffective medical and surgical approaches to botulinum toxin. We evaluate the effectiveness and safety of botulinum toxin in the treatment of this complication in two patients. A síndrome de Frey é caracterizada pela presença de sudorese e rubor hemifacial, que ocorre após estímulo gustatório, usualmente secundário a trauma cirúrgico da glândula parótida. Acredita-se que esta disfunção ocorra como resultado de regeneração aberrante de fibras autonômicas do nervo facial. O tratamento inclui abordagens clínicas e cirúrgicas, geralmente ineficazes, bem como o uso de toxina botulínica. Avaliamos a eficácia e segurança do uso de toxina botulínica no tratamento desta complicação em dois pacientes.

Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy. This is the first description of myoadenilate deaminase deficiency with myotonia congenita. Myoadenylate deaminase deficiency is the most common enzymatic deficit of muscle, and the association with other neuromuscular diseases is coincidental.

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.

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.

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 Clνnicas, Federal University of Paranα, 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 leucopoenia, 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.

Charcot contribuiu significativamente no século XIX na descrição de várias enfermidades neurológicas, em particular na área dos distúrbios do movimento. Charcot contribuiu de forma exponencial na descrição clínica minuciosa da doença de Parkinson, além de introduzir o primeiro tratamento farmacológico. Na área das hipercinesias realizou estudos sobre a síndrome de Tourette, o diagnóstico diferencial dos tremores, das coréias e o estudo inicial sobre startle. Marsden, recentemente falecido, destacou-se no século XX com inúmeras publicações na área dos movimentos anormais.São contribuições seminais os estudos sobre a doença de Parkinson, distonias, mioclonias , tremor essencial, a descrição das síndromes " Painful Legs Moving Toes ", "Gait Ignition Failure" e o "Tremor Primário da Escrita". As contribuições de Charcot no século XIX e de Marsden no século XX na área dos distúrbios do movimento permitem concluir que ambos foram as figuras mais representativas desta área nos últimos dois séculos. 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.

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

A ossificação do ligamento longitudinal posterior (OLLP) é causa incomum de mielopatia compressiva na população caucasiana. É relatado o caso de um paciente do sexo masculino com um quadro de paraparesia espástica, cuja investigação radiológica mostrou OLLP. O raio-X de coluna cervical mostrou imagem laminar, vertical, com densidade óssea, posterior aos corpos vertebrais, que se estendia de C2 a T1. A tomografia computadorizada (TC) e a mielotomografia mostravam OLLP causando compressão medular ântero-posterior no segmento descrito. Na ressonância magnética, observou-se área de hiperintensidade em T2 no segmento C7-T1, compatível com mielomalácia. O paciente foi submetido a laminoplastia tipo "open-door", com melhora do quadro parético dos membros inferiores. A OLLP deve entrar no diagnóstico diferencial das mielopatias cervicais, sendo facilmente diagnosticada através de radiografias e TC da coluna cervical. São revisados os aspectos clínicos e radiológicos e o tratamento da OLLP. 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.

Relatamos o caso de uma mulher de 30 anos com quadro de fraqueza muscular nos membros inferiores com predomínio distal com início há 7 anos. Na evolução apresentou fraqueza muscular nos membros superiores. O exame físico mostrava nervos cranianos sem alterações, hipotrofia bilateral de quadriceps e interósseos dos pés, redução da força muscular mais intensa em tibiais anteriores e interósseos dorsais dos pés e reflexos tendinosos globalmente hipoativos. Foi realizado teste de estimulação repetitiva que mostrou decremento maior que 10% no nervo fibular e ulnar. A dosagem de anticorpos anti-receptor de acetilcolina foi positiva. Tomografia computadorizada de tórax foi normal. Dosagem de hormônios tireoidianos mostrou evidências laboratoriais de hipertireoidismo, porém sem manifestações clínicas. Foi iniciado tratamento com piridostigmina havendo melhora importante do quadro clínico. A fraqueza distal é um sintoma inicial raro na miastenia grave (MG). Contudo, a MG deve entrar no diagnóstico diferencial de doenças que cursam com fraqueza muscular distal de membros superiores ou inferiores.