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Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians. We conducted a wide review of congenital myasthenic syndromes in their clinical, genetic and therapeutic aspects.

RESUMO -O autor relata sua experiência com sete pacientes portadores de cistos aracnóides tratados cirurgicamente, todos pela técnica neuroendoscópica. Dentre os pacientes, dois portadores de cistos suprasselares haviam sido submetidos a várias cirurgias de derivação do líquido cefalorraquiano e um portador de cisto temporal, a derivações externas de higroma subdural associado. Apenas neste caso a abordagem endoscópica não resultou em controle dos sintomas do paciente. O tempo de acompanhamento variou de um a nove anos. PALAVRAS-CHAVE: cisto aracnóide, neuroendoscopia. Intracranial arachnoid cysts: neuroendoscopic treatmentABSTRACT -The author reports the techniques and results of seven patients with intracranial arachnoid cysts treated surgically, all of them through neuroendoscopic approach. Two carriers of supraselar cysts had undergone several shunt surgeries, and another carrier of a temporal cyst undergone external drainage to treat an associated subdural higroma. Only in this case the endoscopic approach has not resulted in control of the symptoms of the patient. The follow up period extended from one to nine years.KEY WORDS: arachnoid cyst, neuroendoscopy.Os cistos aracnóides são coleções intraracnóides de líquido céfalo raquiano (LCR). São de natureza congênita e se formam graças a defeito valvular das membranas aracnóides que facilita a passagem do LCR para o interior do cisto e dificulta a saída 1 . Embora muitos podem constituir achados incidentais, outros podem causar sintomas por compressão do parênquima cerebral ou aumento da pressão intracraniana 2 . É conhecida a propensão de ocorrer hemorragias no interior dos cistos [3][4][5] . Desde o desenvolvimento dos modernos endoscópios, uma técnica minimamente invasiva foi disponibilizada para o tratamento destas lesões. O autor relata neste estudo sua experiência no tratamento de sete cistos aracnóides pela neuroendoscopia. CASUÍSTICADe 1987 a 1997 foram atendidos no Serviço de Neurocirurgia do Hospital Santa Genoveva 21 pacientes portadores de cistos aracnóides sob as mais variadas formas de apresentação. Dentre estes, um paciente no início da série, portador de cisto da placa quadrigêmina, foi submetido a cinco cirurgias dentre fenestrações e derivações cisto e ventrículo peritoneais. Outra paciente foi admitida na emergência com história de queda, sonolência e déficit motor. A tomografia axial computadorizada (TC) revelou imagem sugestiva de cisto aracnóide da fissura silviana e hematoma intraparenquimatoso com desvio de linha média, confirmados pela abordagem cirúrgica. Doze pacientes não receberam qualquer forma de tratamento e sete foram tratados por fenestrações sob técnica endoscópica. Estes últimos constituem o objeto deste relato (Tabela 1).

-Myasthenia gravis (MG) is an autoimmune disease characterized by fluctuating muscle weakness, caused by impaired neuromuscular transmission. Patients with MG can present other autoimmune diseases in association, commonly hypo or hyperthyroidism. The association of MG to demyelinating disease is rare and has been described before. We report on three Brazilian patients with MG that presented distinct demyelinating diseases, two monophasic and one recurrent neuromyelitis optica, several years after the diagnosis of MG, and discuss their clinical courses.Key Words: myasthenia gravis, demyelinating disease, association. Doenças desmielinizantes em pacientes com miastenia gravisResumo -Miastenia gravis (MG) é doença autoimune caracterizada por episódios de fraqueza muscular alternados com melhora, causada por bloqueio da junção neuromuscular. Pacientes com MG podem apresentar outras doenças autoimunes, comumente hipo ou hipertiroidismo, e a associação de MG com doenças desmielinizantes é raramente descrita. relatamos três pacientes brasileiros com MG que desenvolveram doenças desmielinizantes, dois monofásicos e um neuromielite óptica recorrente, vários anos após o diagnóstico de MG e discutimos seus cursos clínicos.PAlAvrAs-chAve: miastenia gravis, doenças desmielinizante, associação. Myasthenia gravis (MG) is an autoimmune disease characterized by fluctuating muscle weakness, caused by impaired neuromuscular transmission. Autoantibodies specific for the human nicotinic acetylcholine receptor are present in 70 to 80% of the patients, and the remaining cases can be associated with antibodies targeted at muscle specific kinase (MusK) and other proteins in the post-synaptic membrane 1,2 . MG has a bimodal incidence: (1) 20 to 40 years-old, predominated by women, and (2) 60 to 80 years-old, predominated by men 2 .Patients with MG commonly have thyroid disease and can present with nonspecific immune system abnormalities, such as positive auto antibodies and alopecia areata 3-5 . rarely, MG can be part of multiple autoimmune syndromes, including autoimmune diabetes mellitus, thrombotic thrombocytopenic purpura, sjögren syndrome, systemic lupus erythematosus, vitiligo, among other rare diseases 5 . In the past 20 years there has been an increasing number of reports on patients with MG presenting demyelinating diseases (dd) 6-15 , including multiple sclerosis, neuromyelitis optica (NMo), transverse myelitis and optic neuritis. however, it is not known whether this association is also part of unspecific immune activation, genetic susceptibility or if it just happens by random.We herein describe three Brazilian patients with MG that presented different dd and discuss their clinical courses. methoDWe reviewed the records of 630 patients followed for MG at the Neuroimmunology clinic of the Federal University of sao Paulo between 1979 and 2006. The diagnosis of MG was based on clinical history, neurological examination, electrophysiological testing and response to acetyl cholinesterase inhibitor medication (pyridostigmi...

The terminal complement inhibitor eculizumab was shown to improve myasthenia gravis-related symptoms in the 26-week, phase 3, randomized, double-blind, placebo-controlled REGAIN study (NCT01997229). In this 52week sub-analysis of the open-label extension of REGAIN (NCT02301624), eculizumab's efficacy and safety were assessed in 11 Japanese and 88 Caucasian patients with anti-acetylcholine receptor antibody-positive refractory generalized myasthenia gravis. For patients who had received placebo during REGAIN, treatment with openlabel eculizumab resulted in generally similar outcomes in the Japanese and Caucasian populations. Rapid improvements were maintained for 52 weeks, assessed by change in score from open-label extension baseline to week 52 (mean [standard error]) using the following scales (in Japanese and Caucasian patients, respectively): Myasthenia Gravis Activities of Daily Living (−2.4 [1.34] and − 3.3 [0.65]); Quantitative Myasthenia Gravis (−2.9 [1.98] and − 4.3 [0.79]); Myasthenia Gravis Composite (−4.5 [2.63] and − 4.9 [1.19]); and Myasthenia Gravis Quality of Life 15-item questionnaire (−8.6 [5.68] and − 6.5 [1.93]). Overall, the safety of eculizumab was consistent with its known safety profile. In this interim sub-analysis, the efficacy and safety of eculizumab in Japanese and Caucasian patients were generally similar, and consistent with the overall REGAIN population.

Objective:Rare disease Background:Cocaine abuse is a globally recognized problem with great socioeconomic and health impacts on society. We report a case of dissection of vertebral arteries and right renal artery after cocaine abuse that clinically presented as atypical headache and hypertension. Case Report:A 36-year-old male sought emergency care due to cervical pain after cocaine abuse. The pain was located to the right cervical side with irradiation to the homolateral temporal region. He had no previous comorbidities, except for cocaine abuse on a weekly basis. Angiotomography showed alterations compatible with recent arterial dissection of the right vertebral artery, confirmed on angioresonance. The patient received double antiaggregation and antihypertensive drugs and was discharged. He was readmitted 5 days later due to hypertensive crisis and mild abdominal pain. Abdominal ultrasound with a Doppler of renal arteries showed signs right renal artery stenosis. Magnetic resonance angiography confirmed dissection of the same vessel. The patient underwent arteriography with stent implantation in the right renal artery. During outpatient follow-up, he progressed with gradual reduction of antihypertensive drugs. Conclusions:There is only 1 case report correlating renal artery dissection with cocaine use and none with concomitant presentation of dissection in the vertebral and renal arterial beds. The scarcity of reports is a consequence of many problems. Therefore, young patients presenting with new-onset hypertension or abdominal pain and cocaine abuse history should raise suspicion for renal artery dissection.

Objective To assess whether eculizumab, a terminal complement inhibitor, improves patient‐ and physician‐reported outcomes (evaluated using the myasthenia gravis activities of daily living profile and the quantitative myasthenia gravis scale, respectively) in patients with refractory anti‐acetylcholine receptor antibody‐positive generalized myasthenia gravis across four domains, representing ocular, bulbar, respiratory, and limb/gross motor muscle groups. Methods Patients with refractory anti‐acetylcholine receptor antibody‐positive generalized myasthenia gravis were randomized 1:1 to receive either placebo or eculizumab during the REGAIN study (NCT01997229). Patients who completed REGAIN were eligible to continue into the open‐label extension trial (NCT02301624) for up to 4 years. The four domain scores of each of the myasthenia gravis activities of daily living profile and the quantitative myasthenia gravis scale recorded throughout REGAIN and through 130 weeks of the open‐label extension were analyzed. Results Of the 125 patients who participated in REGAIN, 117 enrolled in the open‐label extension; 61 had received placebo and 56 had received eculizumab during REGAIN. Patients experienced rapid improvements in total scores and all four domain scores of both the myasthenia gravis activities of daily living profile and the quantitative myasthenia gravis scale with eculizumab treatment. These improvements were sustained through 130 weeks of the open‐label extension. Interpretation Eculizumab treatment elicits rapid and sustained improvements in muscle strength across ocular, bulbar, respiratory, and limb/gross motor muscle groups and in associated daily activities in patients with refractory anti‐acetylcholine receptor antibody‐positive generalized myasthenia gravis.

RESUMO -Apresentamos 22 pacientes com diagnóstico de miastenia grave autoimune adquirida (MGAA), com queixa de disfagia orofaríngea, avaliados pela análise fonoaudiológica, nasofibrolaringoscópica e manométrica de esfíncter esofágico superior, com o objetivo de avaliar as fases do processo de deglutição e os aspectos anatômicos e funcionais do sistema estomatognático. A idade dos pacientes variou de 19 a 74 anos; 19 (86,4%) eram do sexo feminino e 3 (13,6%) do masculino. Os principais achados foram: (1) correlação entre avaliação fonoaudiológica e nasofibrolaringoscópica; (2) alterações do sistema estomatognático, em 100% dos casos; (3) desordens da mastigação / deglutição presentes em 100% dos pacientes, à avaliação fonoaudiológica e em 81,8%, à nasofibrolaringoscópica; (4) associação entre penetração/aspiração e episódios de pneumonia; (5) comprometimento muscular do sistema estomatognático, acúmulo de resíduos, escape precoce do bolo para a faringe e episódios de penetração/aspiração apresentaram correlação nítida com diminuição da contração faríngea. Estes achados justificam a necessidade de avaliar as fases do processo de deglutição em pacientes com MGAA, com o objetivo de propiciar uma orientação adequada e prevenir episódios de pneumonia aspirativa, desnutrição e desidratação, devido à administração inadequada de alimentação via oral.PALAVRAS-CHAVE: deglutição, disfagia, miastenia grave autoimune adquirida. Clinical, endoscopical and manometric evaluation of swallowing in patients with myasthenia gravisABSTRACT -Dysphagia, or difficulty swallowing, is a common problem following myasthenia gravis (MG) and may lead to aspiration of saliva, food or liquids. We herein present 22 MG patients, with complaint of dysphagia, evaluated by phonoaudiological evaluation, nasofibrolaryngoscopical analysis and manometry of upper esophageal sphincter. The main objective was to evaluate the phases of the swallowing process and anatomical and functional aspects of oropharyngeal musculature. The age of patients varied from 19 to 74 years; being 19 female and 3 male. The main data were: (1) statistically significant relation between the phonoaudiological clinical evaluation and nasofibrolaryngoscopical one; (2) stomatognatical system disorders present in 100%; (3) swallowing and chewing disorders present in 100%, when clinically evaluated, and in 81,8% when evaluated by the nasofibrolaryngoscopy; (4) statistically significant relation between penetration/aspiration and antecedents of pneumonia; (5) stomatognatical muscles very altered, difficulty controlling the bolus, collection of food in the pharynx or larynx and presence of penetration and/or aspiration showed significant correlation with weakness of a pharyngeal muscles. These findings justify the necessity to evaluate clinically the swallowing phases in MG patients, with the main purpose to prevent both aspiration and dehidration from inadequate oral intake.