Adult-onset idiopathic opsoclonus-myoclonus syndrome / Síndrome de opsoclonia-mioclonia idiopática de início adulto

ABSTRACT Purpose: Opsoclonus-myoclonus syndrome is extremely uncommon in adults with an autoimmune pathophysiology. Because of the rarity of the syndrome, international recognition of opsoclonus-myoclonus-ataxia syndrome needs to be improved urgently. Therefore, the goal of this study was to raise the awareness of the opsoclonus-myoclonus-ataxia syndrome and help doctors in better diagnosing and using immunotherapy. Methods: We present a case study of an adult-onset case of idiopathic opsoclonus-myoclonus syndrome characterized by spontaneous arrhythmic multidirectional conjugate eye movements, myoclonus, ataxia, sleep disorders, and intense fear. Additionally, we conduct a literature search and summarize the pathophysiology, clinical presentation, diagnosis, and treatment of opsoclonus-myoclonus-ataxia syndrome. Results: Immunotherapies successfully treated the patient's opsoclonus, myoclonus, and ataxia. Further, the article also includes an update summary of the opsoclonus-myoclonus-ataxia syndrome. Conclusion: The prevalence of residual sequela in adults with opsoclonus-myoclonus-ataxia syndrome is low. Early diagnosis and treatment may result in a better prognosis. Furthermore, combined immunotherapy is expected to reduce the incidence of refractory and reoccurring opsoclonus-myoclonus-ataxia syndrome.

RESUMO Objetivo: A síndrome de opsoclonia-mioclonia é extremamente rara em adultos e tem uma fisiopatologia autoimune. Devido à raridade dessa síndrome, o reconhecimento da síndrome de opsoclonia-mioclonia-ataxia precisa melhorar urgentemente em todo o mundo. Assim sendo, este estudo visou aumentar a conscientização sobre a síndrome de opsoclonia-mioclonia-ataxia e ajudar os médicos para um melhor diagnóstico e o uso correto da imunoterapia. Métodos: Este é o relato de um caso adulto de síndrome de opsoclonia-mioclonia idiopática com movimentos oculares conjugados, multidirecionais, arrítmicos e espontâneos, mioclonia, ataxia, distúrbios do sono e medo intenso. Além disso, foram pesquisadas as publicações recentes relevantes e resumiu-se a fisiopatologia, a apresentação clínica, o diagnóstico e o tratamento da síndrome de opsoclonia-mioclonia-ataxia. Resultados: A paciente recuperou-se totalmente da opsoclonia, da mioclonia e da ataxia através de imunoterapia. O artigo também fornece um resumo atualizado sobre a síndrome de opsoclonia-mioclonia-ataxia. Conclusão: Adultos com síndrome de opsoclonia-mioclonia-ataxia têm uma baixa frequência de sequelas residuais. O diagnóstico e o tratamento precoces podem levar a melhores prognósticos. Espera-se que a imunoterapia combinada reduza a incidência da síndrome de opsoclonia-mioclonia-ataxia refratária e recorrente.

A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings / Uma nova mutação pontual levando à sialidose tipo 1 - síndrome mioclônica e seus achados na tomografia de coerência óptica

ABSTRACT This report presents the optical coherence tomography findings and a new NEU1 mutation in bilateral macular cherry-red spot syndrome associated with sialidosis type 1. A 19-year-old patient with a macular cherry-red spot underwent metabolic and genetic analyses supported by spectral-domain optical coherence tomography. Fundus examination revealed bilateral macular cherry-red spot. Spectral-domain optical coherence tomography revealed increased hyperreflectivity in the retinal inner layers and the photoreceptor layer in the foveal region. The genetic analysis detected a new NEU1 mutation, which caused type I sialidosis. In cases with a macular cherry-red spot, sialidosis should be included in the differential diagnosis, and NEU1 mutation should be screened. Spectral-domain optical coherence tomography alone is not sufficient in the differential diagnosis because childhood metabolic diseases may exhibit similar signs.

RESUMO Neste artigo, objetivamos apresentar os achados da tomografia de coerência óptica em uma nova mutação detectada no gene NEU1 em um caso de síndrome macular vermelho-cereja bilateral associada à sialidose tipo 1. Um paciente de 19 anos com um achado de mancha macular vermelho-cereja foi submetido a análises metabólicas e genéticas, apoiadas por imagens de tomografia de coerência óptica de domínio espectral (SD-OCT). Ao exame de fundo de olho, foi observada uma mancha macular vermelho-cereja bilateral. Nas imagens de SD-OCT, observou-se hiper-refletividade nas camadas internas da retina e na camada fotorreceptora na região foveal. Foi realizada uma análise genética e uma nova mutação foi detectada no gene NEU1, resultando em sialidose tipo 1. Nos casos em que é detectada uma mancha vermelho-cereja na mácula, o diagnóstico diferencial de sialidose deve ser feito e mutações do gene NEU1 devem ser rastreadas. A SD-OCT por si só não é suficiente para o diagnóstico diferencial, porque achados de aparência semelhante podem se manifestar em casos de doenças metabólicas da infância.

Creutzfeldt-Jakob disease: literature review based on three case reports / Doença de creutzfeldt-jakob: revisão da literatura baseada no relato de três casos

ABSTRACT. Creutzfeldt-Jakob disease (CJD) is one of the transmissible spongiform encephalopathies that lead to rapidly progressive dementia. CJD has a low prevalence, and the average survival is only 1 year after the onset of symptoms. As the patients with CJD develop rapidly progressive dementia, associated with myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, and akinetic mutism, the hypothesis of CJD must be raised. Classic magnetic resonance imaging (MRI) findings are hypersignals in the caudate nucleus, putamen, and cortical region. CJD must be considered a differential diagnosis of other types of dementia, and there is no effective treatment for this disease. In this article, we present a literature review based on the report of three cases of the sporadic form of this disease.

RESUMO. A doença de Creutzfeldt-Jakob (DCJ) faz parte do grupo das encefalopatias espongiformes transmissíveis que levam a um quadro de demência rapidamente progressiva. A DCJ possui baixa prevalência, e a sobrevida média é de apenas um ano após o início dos sintomas. Diante de um paciente com demência rapidamente progressiva, associada a mioclonias, alterações visuais ou cerebelares, sinais piramidais ou extrapiramidais e mutismo acinético, a hipótese de DCJ deve ser levantada. Os achados clássicos na ressonância magnética são os hipersinais em núcleo caudado, putâmen e região cortical. A DCJ deve ser considerada como um diagnóstico diferencial de outros tipos de demência e não existe um tratamento eficaz para essa doença. Apresentamos neste artigo uma revisão da literatura baseada no relato de três casos da forma esporádica dessa doença.

Síndrome de opsoclonia mioclonia idiopático: Reporte de caso en una paciente de 13 meses / Idiopathic opsoclonus myoclonus syndrome: Case report in a 13-month-old female patient

Resumen El síndrome de opsoclonia mioclonía es una entidad neurológica poco frecuente que afecta a los niños en la etapa preescolar. Clínicamente se caracteriza por una triada clásica de opsoclonía, mioclonía y ataxia aguda, con una evolución progresiva o incluso de manera incompleta. Su etiología puede ser paraneoplásica, en la mayoría de los casos en asociación con neuroblastomas, así como postinfecciosa o parainfecciosa, autoinmune o idiopática. En objetivo del tratamiento es la inmunomodulación con terapia de primera línea con esteroides endovenosos aunque pudiendo asociarse a recaídas y secuelas a largo plazo en el ámbito neurológico y conductual. El síndrome de opsoclonia mioclonía representa un reto diagnóstico en los pacientes con ataxia aguda dada la variedad de presentación clínica, por tanto es importante tener una alta sospecha diagnostica para garantizar un tratamiento oportuno y evitar secuelas futuras.

Abstract Opsoclonus myoclonus syndrome is a rare neurological entity affecting preschool children. Clinically it is characterized by a classic triad of opsoclonus, myoclonus, and acute ataxia, with a progressive or even incomplete course. Its etiology can be paraneoplastic, in most cases in association with neuroblastomas, as well as postinfectious or parainfectious, autoimmune or idiopathic. The goal of treatment is immunomodulation with first-line therapy with intravenous steroids, although it can be associated with relapses and long-term neurological and behavioral sequelae. The opsoclonus myoclonus syndrome represents a diagnostic challenge in patients with acute ataxia given the variety of clinical presentations, therefore it is important to have a high diagnostic suspicion to ensure timely treatment and aoid future sequelae.

Síndrome cistocerebral: a propósito de un caso / Cystocerebral syndrome: A case report

RESUMEN El síndrome cistocerebral fue descrito por primera vez en 1990 por Blackburn y Dunn. Los casos estudiados fueron varones ancianos con síndrome confusional agudo y retención urinaria aguda que, tras un drenaje vesical, presentaron resolución completa del cuadro clínico. Se reporta el caso de un anciano con disminución rápida del nivel de consciencia, mioclonías, hipotensión arterial, bradicardia y retención aguda de orina que experimentó total remisión del cuadro clínico luego del drenaje vesical correspondiente. Se describen, asimismo, los posibles mecanismos implicados en el origen de este síndrome y las alteraciones hemodinámicas y autonómicas subyacentes. Se sugiere considerar al síndrome cistocerebral en el diagnóstico diferencial de pacientes varones ancianos con síndrome confusional o deterioro cognitivo e hipertrofia prostática y que presenten, además, un episodio de retención urinaria aguda.

SUMMARY Cystocerebral syndrome was first described in 1990 by Blackburn and Dunn, in elderly males with acute confusion syndrome and urinary retention, who after bladder drainage experienced full resolution of the clinical picture. We report the case of an elderly male patient with Cystocerebral syndrome and symptoms such as a rapid decrease in consciousness level, myoclonies, hypotension, bradycardia and acute urinary retention who, after bladder drainage presented a complete remission of the clinical picture. The potential mechanisms involved in the origin of this syndrome are described, as well as its underlying hemodynamic and autonomic alterations. Cystocerebral syndrome should be considered in the differential diagnosis of patients with a confusional syndrome and cognitive impairment, diagnosed with prostatic hypertrophy and presenting, in addition, an episode of acute urinary retention.

Mioclonía palatina esencial. Reporte de un caso pediátrico / Essential palatal myoclonus. A pediatric case report

La mioclonía palatina esencial es una entidad otoneurológi-ca rara. Se caracteriza por movimientos involuntarios de los músculos del paladar blando que causan un tinnitus objetivo.La mioclonía del paladar se clasifica en dos tipos: secundaria y primaria (mioclonía palatina esencial); esta última es más frecuente en pediatría. La tomografía computada y la reso-nancia magnética de cerebro normal orientan al diagnóstico. La mioclonía palatina esencial, generalmente, se resuelve en forma espontánea.Se presenta a una paciente de 8 años de edad con un "clic" rápido en forma rítmica en su boca que cedía en forma espontánea

Essential palatal myoclonus is a rare neurological disorder characterized by involuntary movements of the soft palate musculature causing objective-clicking tinnitus. The palatal myoclonus is classified in two forms, secondary and essential palatal myoclonus. Primary (essential) palatal myoclonus is the most common type in childhood. Normal computed tomography and magnetic resonance guide the diagnosis. Spontaneous resolution usually occurs in the essential type of palatal myoclonus.In this report, we present an 8-year-old child making rhythmic, rapid clicking noises from her throat with spontaneous resolution.

How can neurophysiological studies help with movement disorders characterization in clinical practice? A review / Como os exames neurofisiológicos podem ajudar na caracterização dos transtornos do movimento na prática clínica? Uma revisão

ABSTRACT Background: Neurophysiological studies are ancillary tools to better understand the features and nature of movement disorders. Electromyography (EMG), together with electroencephalography (EEG) and accelerometer, can be used to evaluate a hypo and hyperkinetic spectrum of movements. Specific techniques can be applied to better characterize the phenomenology, help distinguish functional from organic origin and assess the most probable site of the movement generator in the nervous system. Objective: We intend to provide an update for clinicians on helpful neurophysiological tools to assess movement disorders in clinical practice. Methods: Non-systematic review of the literature published up to June 2019. Results: A diversity of protocols was found and described. These include EMG analyses to define dystonia, myoclonus, myokymia, myorhythmia, and painful legs moving toes pattern; EMG in combination with accelerometer to study tremor; and EEG-EMG to study myoclonus. Also, indirect measures of cortical and brainstem excitability help to describe and diagnose abnormal physiology in Parkinson's disease, atypical parkinsonism, dystonia, and myoclonus. Conclusion: These studies can be helpful for the diagnosis and are usually underutilized in neurological practice.

RESUMO Introdução: Os estudos neurofisiológicos são métodos auxiliares para compreender melhor as características e a natureza dos distúrbios do movimento. A eletromiografia (EMG), em associação com o eletroencefalograma (EEG) e o acelerômetro, podem ser utilizados para avaliar um espectro de movimentos hipo e hipercinéticos. Técnicas específicas podem ser aplicadas para melhor caracterizar a fenomenologia, ajudar a distinguir a origem psicogênica da orgânica e avaliar o local mais provável de geração do movimento no sistema nervoso. Objetivo: Pretendemos fornecer ao clínico uma atualização sobre ferramentas neurofisiológicas úteis para avaliar distúrbios do movimento na prática clínica. Métodos: Revisão não sistemática da literatura publicada até junho de 2019. Resultados: Uma diversidade de protocolos foi encontrada e descrita. Dentre eles, inclui-se o uso de EMG para a definição do padrão de distonia, mioclonia, mioquimia, miorritmia e painfull legs moving toes, além do uso de EMG em associação ao acelerômetro para avaliar tremor e, em associação ao EEG para avaliar mioclonia. Ademais, técnicas para medida indireta de excitabilidade cortical e do tronco encefálico ajudam a descrever e diagnosticar a fisiologia anormal da doença de Parkinson, parkinsonismo atípico, distonia e mioclonia. Conclusão: Esses estudos podem ser úteis para o diagnóstico e geralmente são subutilizados na prática neurológica.

Mioclonías posthipóxicas asociadas a estatus epiléptico superrefractario / Post hypoxic myoclonus associated with super refractory status epilepticus

RESUMEN INTRODUCCIÓN: Las mioclonías posthipóxicas aparecen como consecuencia del daño cerebral secundario a hipoxemia severa, con frecuencia en las primeras 24 horas después de la realización de reanimación cardiopulmonar, y los pacientes permanecen en estado de coma por largo tiempo. En general, su aparición constituye un predictor de mal pronóstico. El objetivo de la presentación de este caso es resaltar la presencia de estado epiléptico superrefractario relacionado con mioclonías posthipóxicas. CASO CLÍNICO: Paciente masculino de 24 años con herida de arma cortopunzante en región precordial y toracoabdominal posterior derecha, que ingresa en estado de coma. Es llevado a cirugía y allí se evidencia hemopericardio y herida cardiaca grado III, que fue corregida, con retorno a circulación espontánea pasados 15 minutos desde el inicio de la reanimación cardio-pulmonar y masaje cardiaco bimanual intraoperatorio. Se realiza resonancia magnética cerebral con gadolinio que muestra extensas zonas de isquemia cortical, de tálamos y leve de tallo cerebral, con electroencefalograma que demuestra actividad epiléptica bajo coma barbitúrico con mioclonías generalizadas. CONCLUSIONES: Al analizarse críticamente la clínica, los hallazgos paraclínicos, el estado de conciencia persistente comatoso y la actividad convulsiva con mioclonías, se confirma el diagnóstico de mioclonías posthipóxicas asociadas a estatus epiléptico superrefractario.

SUMMARY INTRODUCTION: Post hypoxic myoclonus appears as a consequence of brain damage secondary to severe hypoxemia, generally occurring in the first 24 hours after performing cardiopulmonary resuscitation and patients remain in a coma for a long time. In general, the appearance of them is a predictor of poor prognosis. The objective of this case is to highlight the presence of super refractory status epilepticus related to post hypoxic myoclonus. CLINICAL CASE: A 24-year-old male with a punctured short gun wound in the precordial region and right thoracoabdominal posterior, who was admitted in a coma. He underwent surgery where hemopericardium and grade III heart injury were corrected, with return to spontaneous circulation after 15 minutes from the start of cardiopulmonary resuscitation and intraoperative bimanual cardiac massage, magnetic resonance imaging of the brain with gadolinium was performed, showing extensive areas of cortical ischemia, of both thalamus and minor in brainstem, with electroencephalogram showing epileptic activity under barbituric coma with generalized myoclonus. CONCLUSIONS: Clinical analysis, paraclinical findings, persistent comatose state of consciousness and seizure activity with myoclonus confirmed the diagnosis of post-hypoxic myoclonus associated with super refractory status epilepticus.

Síndrome de opsoclonus mioclonus secundario a neuroblastoma abdominal. Presentación de un caso clínico pediátrico / Opsoclonus myoclonus syndrome secondary to abdominal neuroblastoma. Presentation of a pediatric clinical case

El síndrome de opsoclonus mioclonus es un trastorno poco frecuente en pediatría. El diagnóstico es clínico y se caracteriza por la presencia de, al menos, tres de los siguientes: opsoclonus, mioclonías, ataxia, irritabilidad y trastornos del sueño. En más del 50 % de los casos, se asocia con la presencia de neuroblastoma. Es un trastorno de origen inmunitario y su tratamiento es a base de inmunosupresores, inmunomoduladores y resección tumoral en los casos secundarios a neuroblastoma. Entre el 70 % y el 80 % de los casos pueden tener secuelas neurológicas, dependiendo de la causa, la gravedad inicial de los síntomas y la velocidad de instauración del tratamiento.Se presenta el caso de un varón de 2 años con diagnóstico de síndrome de opsoclonus mioclonus secundario a un neuroblastoma suprarrenal izquierdo, en el que se realizó la resección tumoral y el tratamiento con corticoides, inmunoglobulina y rituximab.

Opsoclonus-myoclonus syndrome is a rare disorder among pediatric patients.The diagnosis is clinical and is characterized by the presence of at least three of the following: opsoclonus, myoclonus, ataxia, irritability and sleep disorders. In over 50 % of cases it is associated with the presence of Neuroblastoma. It is a disorder of immune origin and its treatment is based on immunosuppressants, immunomodulators and tumor resection in cases secondary to Neuroblastoma. Up to 70 % to 80 % of cases may present neurological sequelae, depending on the cause, the initial severity of symptoms and the delay of proper treatment. We present the case of a 2-year-old male with diagnosis of opsoclonus-myoclonus syndrome secondary to a left adrenal Neuroblastoma. Tumor resection and treatment with corticosteroids, immunoglobulin and rituximab were performed.

Enfermedad de Creutzfeldt-Jakob. Presentación de un caso y revisión de la literatura / Creutzfeldt-Jakob Disease. Case Report and Literature Review / Doença de Creutzfeldt-Jakob. Apresentação de caso e revisão da literatura

Resumen: La enfermedad de Creutzfeldt-Jakob (ECJ) es una patología neurodegenerativa transmisible, producida por una proteína anómala infectante denominada prion. Junto con el kuru, el insomnio familiar fatal y el síndrome de Gerstmann-Stráussler-Scheinker, configura el grupo de las llamadas encefalopatías espongiformes. La ECJ es la forma más común en el ser humano: se calcula que afecta a una persona por cada millón, a nivel mundial, y la mayoría de los pacientes presenta síntomas clásicos de demencia y mioclonías, asociadas a cambios específicos en el electroencefalograma (EEG). Conforme la enfermedad progresa, el cuadro demencial empeora y pueden presentarse síntomas visuales, cerebelosos, piramidales y extrapiramidales. El diagnóstico definitivo se logra demostrando la degeneración espongiforme de las neuronas en histopatología. La ECJ siempre es mortal y no tiene tratamiento específico: cerca del 90% de los pacientes fallece dentro del primer año después del diagnóstico. En este artículo, se reporta el caso de un paciente con ECJ esporádica probable, de acuerdo con los criterios diagnósticos actuales de la OMS y se da a conocer una revisión de la literatura.

Abstract: Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative pathology produced by an infecting abnormal protein called prion. Together with kuru, fatal familial insomnia, and Gerstmann-Stráussler-Scheinker syndrome, it forms the group of so-called spongiform encephalopathies. CJD is the most common form in humans: it is estimated to affect one person per million worldwide and most patients have classic symptoms of dementia and myoclonus, associated with specific changes in the electroencephalogram (EEG). As the disease progresses, the dementia condition worsens and visual, cerebellar, pyramidal, and extrapyramidal symptoms may develop. The final diagnosis is achieved by proving the spongiform degeneration of neurons in the histopathology. CJD is always fatal and has no specific treatment: about 90 % of patients die within the first year of diagnosis. This article reports the case of a patient with probable sporadic CJD, following current who diagnostic criteria, and provides a literature review.

Resumo: A doença de Creutzfeldt-Jakob (DCJ) é uma doença patologia neurodegenerativa transmissível, produzida por uma proteína anormal infectante denominada prion. Juntamente com o kuru, a Insónia familiar fatal e a síndrome de Gerstmann-Stráussler-Scheinker, forma o grupo das chamadas encefalopatias espongiformes. A DCJ é a forma mais comum em humanos: estima-se que ela afete uma em cada um milhão de pessoas em todo o mundo, e a maioria dos pacientes apresenta sintomas clássicos de demência e mioclonia, associados a alterações específicas no eletroencefalograma (EEG). À medida que a doença progride, o quadro de demência piora e podem surgir sintomas visuais, ce-rebelares, piramidais e extrapiramidais. O diagnóstico definitivo é obtido por meio da demonstração da degeneração espongiforme dos neurónios na histopatologia. A dcj é sempre fatal e não possui tratamento específico: cerca de 90% dos pacientes morrem no primeiro ano após o diagnóstico. Neste artigo, é relatado o caso de um paciente com dcj esporádica provável, de acordo com os atuais critérios de diagnóstico da oms, e é apresentada uma revisão da literatura.

Opsoclonus mioclonus en lactante debido a ganglioneuroblastoma: reporte de caso y revisión de literatura

El síndrome de Opsoclonus mioclonus ataxia (SOMA) es una entidad infrecuente en niños, caracterizada por Opsoclonus, mioclonías / ataxia y alteraciones de conducta o de sueño. En la actualidad representa una gran morbilidad dada su naturaleza paraneoplásica y autoinmune; destaca su asociación frecuente con tumores neuroblásticos y su tendencia hacia la cronicidad, recaídas y secuelas en el neurodesarrollo. Se revisa el caso de lactante de 13 meses, uno de los casos reportados a más temprana edad en Colombia, cuyo motivo de consulta fue irritabilidad, temblor distal, opsoclonía, con pruebas negativas para neuroinfección. Posteriormente a estudios se describieron dos masas en ápice torácico izquierdo, una de ellas entre carótida interna y yugular externa. La masa más grande fue de manejo quirúrgico; la patología reportó ganglioneuroblastoma de patrón nodular. No se logró resección quirúrgica completa y tuvo recaída de síntomas; como complicación posquirúrgica se presentó síndrome de Horner incompleto. Al tener difícil acceso quirúrgico se optó por manejo con poliquimioterapia protocolo de riesgo intermedio del COG (Children Oncology Group), que recibió por un año con resolución completa del cuadro clínico. Se presenta el caso de lactante con SOMA de difícil manejo, en el cual el abordaje quirúrgico falló y se requirió terapia complementaria. La quimioterapia se convierte en una opción de manejo cuando la resección quirúrgica no sea completa.

SUMMARY The opsoclonus myoclonus ataxia syndrome (OMA) is an infrequent entity in children, characterized opsoclonus, myoclonus/ataxia, sleep pattern or behavioral alterations. It represents great morbidity given its paraneoplastic and autoimmune nature; it is frequently associated with neuroblastic tumors and its tendency towards chronicity, relapses and neurodevelopmental sequels. We examine the case of a previously healthy thirteen months toddler, one of the earliest age reported cases in Colombia, who consulted for irritability, distal tremor, opsoclonus, and had negative neuroinfection tests. It was reported, after additional studies, the presence of 2 masses in the left pulmonary apex; one of them between the internal carotid artery and the external jugular vein. The bigger mass was surgically removed; pathology reported a ganglioneuroblastoma with nodular pattern. It was not possible to make full surgical resection and the patient experienced a relapse; as a postsurgical complication the patient had transient incomplete Horner syndrome. Due to difficult surgical access, chemotherapy was used for a whole year following the intermediate risk protocol developed by the COG (Children Oncology Group) with full resolution of the symptoms. We present the case of a toddler with difficult surgical approach where the surgical treatment failed, and complementary chemotherapy was needed. Chemotherapy turns into a therapeuthic option when surgical resection is not complete.

Epilepsia mioclónica juvenil / Juvenile myoclonic epilepsy

La epilepsia mioclónica juvenil (EMJ) es un trastorno generalizado que se inicia usualmente en la pubertad o adolescencia y se caracteriza por la presencia de mioclonías y, con menor frecuencia, crisis tónico-clónica generalizadas y ausencias. A nivel internacional, se estima que anualmente tiene lugar un nuevo caso de EMJ por cada 1000-2000 personas. El diagnóstico es fundamentalmente de naturaleza clínica, corroborado por información electroencefalográfica. El fármaco de primera elección para el tratamiento de la EMJ sigue siendo el ácido valpróico; sin embargo, se han reportado resultados eficaces con lamotrigina y levetiracetam para el control de EMJ en monoterapia o politerapia, con topiramato como terapia coadyuvante para el control de las crisis tónico-clónicas generalizadas.

Juvenile Myoclonic Epilepsy (JME) is a generalized type of epilepsy characterized by the occurrence of myoclonic seizures and, less frequently, of generalized tonic-clonic seizures and absences. The onset usually occurs during puberty or adolescence. Worldwide, it is estimated that there is a new case of JME per year for every 1000-2000 people. Its diagnosis is fundamentally clinical, corroborated by EEG tests. The first drug of choice for the treatment of JME is still valproic acid; however, lamotrigine and levetiracetam have shown efficacious results for the control of JME, used as monotherapy or polytherapy with topiramate as a coadyuvant for the control of generalized tonic- clinic seizure.

Mioclonías inducidas por salbutamol / Myoclonus induced by salbutamol: A case report

Resumen El salbutamol es un agonista adrenérgico β2 ampliamente empleado en pacientes con enfermedades pulmonares obstructivas y restrictivas. Sus principales efectos secundarios son la taquicardia y el temblor. Las mioclonías son contracciones musculares involuntarias, irregulares, bruscas, breves y repentinas, y pueden ser generalizadas, focales o multifocales. Se presenta el caso de un paciente de 61 años con mioclonías de difícil manejo que solo presentó mejoría tras la suspensión definitiva del agonista adrenérgico β2. Se describen los hallazgos clínicos, las intervenciones y el resultado en las mioclonías asociadas con el uso de salbutamol y se discuten la posible génesis y la importancia de este efecto adverso. Para documentar el caso, se siguieron las recomendaciones de las guías para el reporte de casos (CAse REport, CARE). Aunque en diversos estudios se han descrito mioclonías secundarias al uso de diferentes fármacos, hasta donde se sabe, este sería el cuarto reporte de un caso asociado específicamente con el uso del salbutamol.

Abstract Salbutamol is a β2 adrenergic agonist widely prescribed in patients with obstructive and restrictive lung diseases. The main side effects associated with its use are tachycardia and tremor. Myoclonus is an involuntary, irregular, abrupt, brief and sudden muscular contraction, which can be generalized, focal or multifocal. We report the case of a 61-year-old patient presenting with myoclonus difficult to treat who showed improvement only after the definitive discontinuation of the β2 adrenergic agonist. We describe the clinical findings, the interventions, and the outcomes related to the onset of myoclonus secondary to the use of salbutamol, as well as the possible genesis and importance of this adverse effect. We used the CARE guidelines to delineate the clinical case. Although myoclonus secondary to the use of different drugs has been described in the literature, as far as we know this is the fourth report of salbutamol-induced myoclonus to date.

Enfermedad de Creutzfeldt-Jakob familiar: a propósito de un caso de demencia rápidamente progresiva en Chile / Creutzfeldt-Jakob familial disease: about a rapidly progressive dementia case in Chile

La enfermedad de Creutzfeldt-Jakob (ECJ) corresponde una enfermedad por priones, la cual se manifiesta como demencia rápidamente progresiva. Dentro de sus manifestaciones clínicas puede presentar deterioro cognitivo progresivo y mioclonías, entre otros. El objetivo de este trabajo es dar a conocer la ECJ de variante familiar, mediante la presentación de un caso clínico. Presentación del caso: Paciente de 67 años, con antecedentes de familiares fallecidos por ECJ, previamente autovalente, que consulta por cuadro de 2 meses de evolución, caracterizado por deterioro cognitivo progresivo, desorientación temporo-espacial, mioclonías y apraxia ideomotora principalmente. Dentro del estudio realizado durante su hospitalización, destaca resonancia magnética de cerebro que describe hiperintensidad de señal bilateral simétrica en ganglios basales y cortezas frontales paramedianas. Además de electroencefalograma (EEG) que muestra descargas agudas de morfología trifásica. Esto junto a la clínica y exámenes complementarios permiten plantear una probable ECJ de variante familiar. Discusión: La aproximación diagnóstica a la ECJ es principalmente clínica, siendo el estudio histopatológico mediante biopsia cerebral el GOLD standard. Dentro de los estudios fundamentales que apoyan el diagnóstico de ECJ, se encuentra la resonancia magnética (RM) y EEG característicos. El diagnóstico de la variante familiar de ECJ se basa en el estudio genético del codón 200 y 129. Se expone una enfermedad no conocida de forma completa, de la cual aún no existen métodos diagnostico totalmente certeros, salvo por la biopsia. Es por esto que los aspectos clínicos son de gran relevancia para su sospecha, representando un desafío para el medico actual.

Introduction: Creutzfeldt-Jakob disease (CJD) is a prion disease, which manifests itself as a rapidly progressive dementia. Within its clinical manifestations may present progressive cognitive impairment and myoclonus, among others. The aim of this paper is to present the familal-type CJD by presenting a clinical case. Case Report: 67-year-old patient with a history of relatives who died of CJD, previously autovalent that consults for a 2 months period characterized by progressive cognitive impairment, time and space disorientation, myoclonus and ideomotor apraxia. In the study carried out during his hospitalization, he was studied with a brain magnetic resonance that describes symmetrical bilateral signal hyperintensity in basal ganglia and paramedian frontal cortex. In addition the electroencephalogram (EEG) showed acute discharges of three-phase morphology. These findings together, with the clinical manifestations and complementary tests allowed to raise a probable familial CJD. Discussion: The diagnostic approach to CJD is mainly clinical, with the GOLD standard being the histopathological study using cerebral biopsy. Among the fundamental studies that support the diagnosis of CJD are the characteristic MRI and EEG. The diagnosis of the familial type of CJD is based on a genetic study of codon 200 and 129. This case exposes a disease of which is not yet fully known which there are still no completely accurate diagnostic methods, except for the biopsy. That is why the clinical aspects are of great relevance to suspect it, representing a challenge for the current doctor.

Effect of gabapentin pretreatment on myoclonus after etomidate: a randomized, double-blind, placebo-controlled study / Efeito do pré-tratamento com gabapentina sobre a mioclonia após etomidato: um estudo randômico, duplo-cego e controlado por placebo

Abstract Aim: To evaluate the effects of three different doses of gabapentin pretreatment on the incidence and severity of myoclonic movements linked to etomidate injection. Method: One hundered patients, between 18 and 60 years of age and risk category American Society of Anesthesiologists I-II, with planned elective surgery under general anesthetic were included in the study. The patients were randomly divided into four groups and 2 h before the operation were given oral capsules of placebo (Group P, n = 25), 400 mg gabapentin (Group G400, n = 25), 800 mg gabapentin (Group G800, n = 25) or 1200 mg gabapentin (Group G1200, n = 25). Side effects before the operation were recorded. After preoxygenation for anesthesia induction 0.3 mg kg−1 etomidate was administered for 10 s. A single anesthetist with no knowledge of the study medication evaluated sedation and myoclonic movements on a scale between 0 and 3. Two minutes after induction, 2 µg kg−1 fentanyl and 0.8 mg kg−1 rocuronium were administered for tracheal intubation. Results: Demographic data were similar. Incidence and severity of myoclonus in Group G1200 and Group G800 were significantly lower than in Group P; sedation incidence and level were appreciably higher compared to Group P and Group G400. While there was no difference in the incidence of myoclonus between Group P and Group G400, the severity of myoclonus in Group G400 was lower than in the placebo group. In the two-hour period before induction other than sedation none of the side effects related to gabapentin were observed in any patient. Conclusion: Pretreatment with 800 mg and 1200 mg gabapentin 2 h before the operation increased the level of sedation and reduced the incidence and severity of myoclonic movements due to etomidate.

Resumo Objetivo: Avaliar os efeitos de três doses diferentes de gabapentina como pré-tratamento sobre a incidência e a gravidade dos movimentos mioclônicos associados à injeção de etomidato. Método: Cem pacientes, entre 18-60 anos, estado físico ASA I-II, programados para cirurgia eletiva sob anestesia geral, foram incluídos no estudo. Os pacientes foram randomicamente divididos em quatro grupos e duas horas antes da operação receberam cápsulas orais de placebo (Grupo P, n = 25), 400 mg de gabapentina (Grupo G400, n = 25), 800 mg de gabapentina (Grupo G800, n = 25) e 1.200 mg de gabapentina (Grupo G1.200, n = 25). Os efeitos colaterais antes da cirurgia foram registados. Após pré-oxigenação para a indução da anestesia, etomidate (0,3 mg.kg−1) foi administrado por 10 segundos. Um único anestesista, cego para a medicação do estudo, avaliou a sedação e os movimentos mioclônicos com uma escala de 0 a 3. Dois minutos após a indução, fentanil (2 µgr.kg−1) e rocurônio (0,8 mg.kg−1) foram administrados para a intubação traqueal. Resultados: Os dados demográficos foram semelhantes. A incidência e a gravidade da mioclonia nos grupos G1.200 e G800 foram significativamente menores do que no Grupo P; a incidência e o nível de sedação foram consideravelmente maiores comparados com o Grupo P e o Grupo G400. Enquanto não houve diferença na incidência de mioclonia entre os grupos P e G400, a gravidade da mioclonia no Grupo G400 foi menor do que no grupo placebo. No período de duas horas antes da indução, nenhum dos efeitos colaterais relacionados à gabapentina, exceto sedação, foi observado em qualquer paciente. Conclusão: O pré-tratamento com 800 mg e 1.200 mg de gabapentina duas horas antes da operação aumentou o nível de sedação e reduziu a incidência e a gravidade dos movimentos mioclônicos associados ao etomidato.

Effect of gabapentin pretreatment on myoclonus after etomidate: a randomized, double-blind, placebo-controlled study.

AIM: To evaluate the effects of three different doses of gabapentin pretreatment on the incidence and severity of myoclonic movements linked to etomidate injection. METHOD: One hundered patients, between 18 and 60 years of age and risk category American Society of Anesthesiologists I-II, with planned elective surgery under general anesthetic were included in the study. The patients were randomly divided into four groups and 2h before the operation were given oral capsules of placebo (Group P, n=25), 400mg gabapentin (Group G400, n=25), 800mg gabapentin (Group G800, n=25) or 1200mg gabapentin (Group G1200, n=25). Side effects before the operation were recorded. After preoxygenation for anesthesia induction 0.3mgkg(-1) etomidate was administered for 10s. A single anesthetist with no knowledge of the study medication evaluated sedation and myoclonic movements on a scale between 0 and 3. Two minutes after induction, 2µgkg(-1) fentanyl and 0.8mgkg(-1) rocuronium were administered for tracheal intubation. RESULTS: Demographic data were similar. Incidence and severity of myoclonus in Group G1200 and Group G800 were significantly lower than in Group P; sedation incidence and level were appreciably higher compared to Group P and Group G400. While there was no difference in the incidence of myoclonus between Group P and Group G400, the severity of myoclonus in Group G400 was lower than in the placebo group. In the two-hour period before induction other than sedation none of the side effects related to gabapentin were observed in any patient. CONCLUSION: Pretreatment with 800mg and 1200mg gabapentin 2h before the operation increased the level of sedation and reduced the incidence and severity of myoclonic movements due to etomidate.

A comparative study between propofol and etomidate in patients under general anesthesia / Estudo comparativo entre propofol e etomidato em pacientes sob anestesia geral

ABSTRACT BACKGROUND AND OBJECTIVES: Induction of anesthesia is a critical part of anesthesia practice. Sudden hypotension, arrhythmias, and cardiovascular collapse are threatening complications following injection of induction agent in hemodynamically unstable patients. It is desirable to use a safe agent with fewer adverse effects for this purpose. Present prospective randomized study is designed to compare propofol and etomidate for their effect on hemodynamics and various adverse effects on patients in general anesthesia. METHODS: Hundred ASA I and II patients of age group 18-60 years scheduled for elective surgical procedure under general anesthesia were randomly divided into two groups of 50 each receiving propofol (2 mg/kg) and etomidate (0.3 mg/kg) as an induction agent. Vital parameters at induction, laryngoscopy and thereafter recorded for comparison. Adverse effect viz. pain on injection, apnea and myoclonus were carefully watched. RESULTS: Demographic variables were comparable in both the groups. Patients in etomidate group showed little change in mean arterial pressure (MAP) and heart rate (HR) compared to propofol (p > 0.05) from baseline value. Pain on injection was more in propofol group while myoclonus activity was higher in etomidate group. CONCLUSIONS: This study concludes that etomidate is a better agent for induction than propofol in view of hemodynamic stability and less pain on injection.

RESUMO JUSTIFICATIVA E OBJETIVOS: A indução é uma parte crítica da prática de anestesia. Hipotensão súbita, arritmias e colapso cardiovascular são complicações ameaçadoras após a injeção de agente de indução em pacientes hemodinamicamente instáveis. É aconselhável o uso de um agente seguro com menos efeitos adversos para esse propósito. O presente estudo prospectivo, randômico, teve como objetivo comparar propofol e etomidato quanto a seus efeitos sobre a hemodinâmica e aos vários efeitos adversos em pacientes sob anestesia geral. MÉTODOS: Cem pacientes ASA I e II, entre 18-60 anos, programados para procedimento cirúrgico eletivo sob anestesia geral, foram divididos aleatoriamente em dois grupos de 50 cada para receber propofol (2 mg/kg) e etomidato (0,3 mg/kg) como um agente de indução. Os parâmetros vitais na indução, laringoscopia e posteriormente foram registrados para comparação. Efeitos adversos como dor à injeção, apneia e mioclonia foram cuidadosamente monitorados. RESULTADOS: As variáveis demográficas foram comparáveis em ambos os grupos. Os pacientes do grupo etomidato apresentaram pouca alteração da pressão arterial média (PAM) e da frequência cardíaca (FC) em comparação com o grupo propofol (p < 0,05) a partir do valor basal. Houve mais dor à injeção no grupo propofol, enquanto houve mais atividade mioclônica no grupo etomidato. CONCLUSÕES: Este estudo conclui que etomidato é um agente melhor para a indução do que o propofol em relação à estabilidade hemodinâmica e menos dor à injeção.

[Effect of gabapentin pretreatment on myoclonus after etomidate: a randomized, double-blind, placebo-controlled study]. / Efeito do pré-tratamento com gabapentina sobre a mioclonia após etomidato: um estudo randômico, duplo-cego e controlado por placebo.

AIM: To evaluate the effects of three different doses of gabapentin pretreatment on the incidence and severity of myoclonic movements linked to etomidate injection. METHOD: One hundered patients, between 18 and 60 years of age and risk category American Society of Anesthesiologists I-II, with planned elective surgery under general anesthetic were included in the study. The patients were randomly divided into four groups and 2h before the operation were given oral capsules of placebo (Group P, n=25), 400mg gabapentin (Group G400, n=25), 800mg gabapentin (Group G800, n=25) or 1200mg gabapentin (Group G1200, n=25). Side effects before the operation were recorded. After preoxygenation for anesthesia induction 0.3mgkg(-1) etomidate was administered for 10s. A single anesthetist with no knowledge of the study medication evaluated sedation and myoclonic movements on a scale between 0 and 3. Two minutes after induction, 2µgkg(-1) fentanyl and 0.8mgkg(-1) rocuronium were administered for tracheal intubation. RESULTS: Demographic data were similar. Incidence and severity of myoclonus in Group G1200 and Group G800 were significantly lower than in Group P; sedation incidence and level were appreciably higher compared to Group P and Group G400. While there was no difference in the incidence of myoclonus between Group P and Group G400, the severity of myoclonus in Group G400 was lower than in the placebo group. In the two-hour period before induction other than sedation none of the side effects related to gabapentin were observed in any patient. CONCLUSION: Pretreatment with 800mg and 1200mg gabapentin 2h before the operation increased the level of sedation and reduced the incidence and severity of myoclonic movements due to etomidate.

A comparative study between propofol and etomidate in patients under general anesthesia.

BACKGROUND AND OBJECTIVES: Induction of anesthesia is a critical part of anesthesia practice. Sudden hypotension, arrhythmias, and cardiovascular collapse are threatening complications following injection of induction agent in hemodynamically unstable patients. It is desirable to use a safe agent with fewer adverse effects for this purpose. Present prospective randomized study is designed to compare propofol and etomidate for their effect on hemodynamics and various adverse effects on patients in general anesthesia. METHODS: Hundred ASA I and II patients of age group 18-60 years scheduled for elective surgical procedure under general anesthesia were randomly divided into two groups of 50 each receiving propofol (2mg/kg) and etomidate (0.3mg/kg) as an induction agent. Vital parameters at induction, laryngoscopy and thereafter recorded for comparison. Adverse effect viz. pain on injection, apnea and myoclonus were carefully watched. RESULTS: Demographic variables were comparable in both the groups. Patients in etomidate group showed little change in mean arterial pressure (MAP) and heart rate (HR) compared to propofol (p>0.05) from baseline value. Pain on injection was more in propofol group while myoclonus activity was higher in etomidate group. CONCLUSIONS: This study concludes that etomidate is a better agent for induction than propofol in view of hemodynamic stability and less pain on injection.

[A comparative study between propofol and etomidate in patients under general anesthesia]. / Estudo comparativo entre propofol e etomidato em pacientes sob anestesia geral.

BACKGROUND AND OBJECTIVES: Induction of anesthesia is a critical part of anesthesia practice. Sudden hypotension, arrhythmias, and cardiovascular collapse are threatening complications following injection of induction agent in hemodynamically unstable patients. It is desirable to use a safe agent with fewer adverse effects for this purpose. Present prospective randomized study is designed to compare propofol and etomidate for their effect on hemodynamics and various adverse effects on patients in general anesthesia. METHODS: Hundred ASA I and II patients of age group 18-60 years scheduled for elective surgical procedure under general anesthesia were randomly divided into two groups of 50 each receiving propofol (2mg/kg) and etomidate (0.3mg/kg) as an induction agent. Vital parameters at induction, laryngoscopy and thereafter recorded for comparison. Adverse effect viz. pain on injection, apnea and myoclonus were carefully watched. RESULTS: Demographic variables were comparable in both the groups. Patients in etomidate group showed little change in mean arterial pressure (MAP) and heart rate (HR) compared to propofol (p>0.05) from baseline value. Pain on injection was more in propofol group while myoclonus activity was higher in etomidate group. CONCLUSIONS: This study concludes that etomidate is a better agent for induction than propofol in view of hemodynamic stability and less pain on injection.