RESUMO

ABSTRACT Background: At present, the etiology and pathogenesis of Moyamoya disease (MMD) are not completely clear. Patients are usually diagnosed after cerebrovascular events. Therefore, it is of great clinical significance to explore the predictive factors of MMD. Objective: This study aimed to investigate the serum level of CoQ10B, the amount of endothelial progenitor cells (EPCs), and mitochondrial function of EPCs in MMD patients. Methods: Forty-one MMD patients and 20 healthy controls were recruited in this study. Patients with MMD were divided into two groups: Ischemic type (n=23) and hemorrhagic type (n=18). Blood samples were collected from the antecubital vein and analyzed by CoQ10B ELISA and flow cytometry. Measures of mitochondrial function of EPCs include oxygen consumption rate (OCR), mitochondrial membrane potential, Ca2+ concentration, adenosine triphosphatases activity and ROS level. Results: The serum CoQ10B level in MMD patients was significantly lower than that in healthy controls (p<0.001). The relative number of EPCs in MMD patients was significantly higher than that in healthy controls (p<0.001). Moreover, the OCR, mitochondrial membrane potential and ATPase activity were decreased and the Ca2+ and reactive oxygen species levels were increased in MMD patients (p<0.001). Conclusions: Our results showed obviously decreased serum CoQ10B level and increased EPCs number in patients with MMD compared with healthy patients, and the mitochondria function of EPCs in MMD patients was abnormal.

RESUMO Antecedentes: No momento, a etiologia e a patogênese da doença de Moyamoya (DMM) não são completamente claras. Os pacientes geralmente são diagnosticados após eventos cerebrovasculares. Sendo assim, é de grande importância clínica explorar os fatores preditivos de DMM. Objetivo: Este estudo teve como objetivo investigar o nível sérico de CoQ10B, a quantidade de células progenitoras endoteliais (CPE) e a função mitocondrial de CPE em pacientes com DMM. Métodos: Quarenta e um pacientes com DMM e 20 controles saudáveis foram recrutados neste estudo. Aqueles com DMM foram divididos em dois grupos: tipo isquêmico (n=23) e tipo hemorrágico (n=18). Amostras de sangue foram coletadas da veia antecubital e analisadas por CoQ10B Ensaio de Imunoadsorção Enzimática (ELISA) e citometria de fluxo. As medidas da função mitocondrial de CPE incluem taxa de consumo de oxigênio (TCO), potencial de membrana mitocondrial, concentração de Ca2+, atividade de adenosina trifosfatases (ATPase) e nível de espécies reativas de oxigênio (ROS). Resultados: O nível sérico de CoQ10B em pacientes com DMM foi significativamente menor do que em controles saudáveis (p<0,001). O número relativo de CPE em pacientes com MMD foi significativamente maior do que em controles saudáveis (p<0,001). Além disso, a TCO, o potencial de membrana mitocondrial e a atividade ATPase diminuíram e os níveis de Ca2+e ROS aumentaram em pacientes com MMD (p<0,001). Conclusões: Nossos resultados mostraram obviamente diminuição do nível sérico de CoQ10B e aumento do número de CPE em pacientes com DMM em comparação com pacientes saudáveis, e a função mitocondrial de CPE em pacientes com DMM estava anormal.

RESUMO

Abstract Moyamoya disease is a chronic occlusive cerebrovascular disease that is non-inflammatory and non-atherosclerotic. It is characterized by endothelial hyperplasia and fibrosis of the intracranial portion of the carotid artery and its proximal branches, leading to progressive stenosis and occlusion, often clinically manifesting as ischemic or hemorrhagic stroke with high rates of morbidity and mortality. On cerebral angiography, the formation of collateral vessels has the appearance of a puff of smoke (moyamoya in Japanese), which became more conspicuous with the refinement of modern imaging techniques. When there is associated disease, it is known as moyamoya syndrome. Treatments are currently limited, although surgical revascularization may prevent ischemic events and preserve quality of life. In this review, we summarize recent advances in moyamoya disease, covering aspects of epidemiology, etiology, presentation, imaging, and treatment strategies.

RESUMO A doença de moyamoya, ou doença cerebrovascular oclusiva crônica, é uma afecção não inflamatória e não aterosclerótica, caracterizada por hiperplasia endotelial e fibrose dos segmentos intracranianos das artérias carótidas internas e da porção proximal de seus ramos. Isso provoca estenose progressiva e oclusão, frequentemente manifestada clinicamente como isquemia cerebral ou hemorragia intracraniana, com alta morbimortalidade. A formação compensatória de vasos colaterais produz, na angiografia encefálica, um aspecto de nuvem de fumaça (moyamoya, em japonês). Quando existe doença subjacente que possa estar relacionada, a doença recebe o nome de síndrome de moyamoya. Embora a incidência esteja aumentando graças aos novos métodos diagnósticos, as estratégias terapêuticas ainda são limitadas. O diagnóstico precoce permite cirurgias de revascularização cerebral que podem evitar novos acidentes vasculares e melhorar a qualidade de vida. Nesta revisão são apresentados os avanços recentes sobre a doença de moyamoya, citando aspectos de epidemiologia, etiologia, apresentação, exames diagnósticos e tratamento.

RESUMO

ABSTRACT Background: Pediatric arterial ischemic stroke (AIS), which was thought to be a rare disorder, is being increasingly recognized as an important cause of neurological morbidity, thanks to new advances in neuroimaging. Objective: The aim of this study was to review the main etiologies of stroke due to arteriopathy in children. Methods: Using a series of cases from our institution, we addressed its epidemiological aspects, physiopathology, imaging findings from CT, MR angiography, MR conventional sequences and MR DWI, and nuclear medicine findings. Results: Through discussion of the most recent classification for childhood AIS (Childhood AIS Standardized Classification and Diagnostic Evaluation, CASCADE), we propose a modified classification based on the anatomical site of disease, which includes vasculitis, varicella, arterial dissection, moyamoya, fibromuscular dysplasia, Takayasu's arteritis and genetic causes (such as ACTA-2 mutation, PHACE syndrome and ADA-2 deficiency). We have detailed each of these separately. Conclusions: Prompt recognition of AIS and thorough investigation for potential risk factors are crucial for a better outcome. In this scenario, neurovascular imaging plays an important role in diagnosing AIS and identifying children at high risk of recurrent stroke.

RESUMO Introdução: O acidente vascular cerebral (AVC) pediátrico, considerado um distúrbio raro, está sendo cada vez mais reconhecido como importante causa de morbidade neurológica, graças aos novos avanços na neuroimagem. Objetivo: Revisar as principais etiologias do AVC por arteriopatia em crianças. Métodos: Utilizando-se de uma série de casos de nossa instituição, abordamos seus aspectos epidemiológicos, fisiopatológicos e de imagem na angiotomografia computadorizada e angiorressonância magnética, sequências convencionais e avançadas de ressonância magnética e medicina nuclear. Resultados: Com base na classificação mais recente de AVC na infância (Classificação Padronizada e Avaliação Diagnóstica do AVC na Infância - CASCADE) propusemos uma classificação modificada com base no local anatômico da doença, que inclui vasculite, varicela, dissecção arterial, Moyamoya, displasia fibromuscular, arterite de Takayasu e causas genéticas (como mutação ACTA-2, síndrome PHACE e deficiência de ADA-2), detalhando cada uma separadamente. Conclusões: O reconhecimento imediato do AVC na infância e a investigação minuciosa de possíveis fatores de risco são cruciais para um melhor resultado. Nesse cenário, a imagem neurovascular desempenha papel importante no diagnóstico de AVC e na identificação de crianças com alto risco de recorrência.

Assuntos

RESUMO

Abstract Moyamoya disease is a rare disorder that involves the cerebrovascular system. Usually, it leads to occlusion of the arteries of the cerebral system and causes cerebral circulatory complaints. A 48-year-old female patient was admitted to our clinic with intermittent claudication in both legs. Biphasic and monophasic waveform patterns were detected bilaterally in distal (trifurcation arteries) lower extremities with Doppler sonography. The patient therefore underwent systemic vascular examination. Computed tomography angiography revealed bilateral carotid occlusion at the level of supraclinoid segments, and opacifications were detected at the distal segments of the bilateral anterior cerebellar and middle cerebellar arteries. The patient was diagnosed with moyamoya disease, and anticoagulant treatment was started. In conclusion, most previous reports have presented the cerebrovascular involvement of moyamoya disease. However, this disease can involve different peripheral vascular systems and careful and systemic vascular examination is necessary for an exact diagnosis.

Resumo A doença de moyamoya é um distúrbio raro que envolve o sistema cerebrovascular. Normalmente, leva à oclusão das artérias do sistema cerebral e causa problemas circulatórios no cérebro. Uma mulher de 48 anos foi admitida em nossa clínica com claudicação intermitente em ambas as pernas. Na ultrassonografia com Doppler, foram detectados padrões de formato de onda bifásico e monofásico nas extremidades inferiores distais (artérias da trifurcação) de forma bilateral. Portanto, realizou-se o exame vascular sistêmico na paciente. A angiografia por tomografia computadorizada revelou oclusão carotídea bilateral no nível dos segmentos supraclinoides, e opacificações foram detectadas nos segmentos distais das artérias cerebelares anteriores e médias de forma bilateral. A paciente foi diagnosticada com doença de moyamoya, e o tratamento anticoagulante foi iniciado. Em conclusão, a maioria dos relatos anteriores apresentou o envolvimento cerebrovascular da doença de moyamoya. No entanto, essa doença pode envolver diferentes sistemas vasculares periféricos, e um exame vascular sistêmico minucioso é necessário para um diagnóstico exato.

Assuntos

RESUMO

Moyamoya disease is a chronic neurovascular disease characterized by progressive bilateral stenosis of the internal carotid arteries with abnormal formation of new abnormal blood vessels whose blockage of blood flow causes a variety of clinical manifestations and complications associated with acute cerebrovascular events (ischemic or hemorrhagic), which may even be fatal. This article seeks to describe this entity, its incidence, prevalence, forms of presentation, therapeutic measures and prognosis through a clinical case report. (Acta Med Colomb 2020; 45. DOI:http://doi.org/10.36104/amc.2020.1424).

La enfermedad de Moyamoya es una enfermedad neurovascular crónica caracterizada por una estenosis progresiva bilateral de las arterias carótidas internas, con la formación anormal de nuevos vasos sanguíneos, cuyo bloqueo en flujo sanguíneo ocasiona variadas manifestaciones clínicas y complicaciones asociadas a eventos cerebrovasculares (isquémicos o hemorrágicos) agudos que pueden llegar a ser incluso mortales. El presente artículo pretende realizar una aproximación acerca de esta entidad, su incidencia, prevalencia, formas de presentación y medidas terapéuticas y pronostico mediante el reporte de un caso clínico.(Acta Med Colomb 2020; 45. DOI:https://doi.org/10.36104/amc.2020.1424).

Assuntos

RESUMO

Se reporta el caso de un paciente de 32 años de edad que desde los 17 y hasta la actualidad, ha experimentado cefaleas constrictivas de minutos de duración, desencadenadas por actividad o esfuerzos físicos. En los últimos siete años ha presentado progresiva declinación cognitiva y cambios acentuados de personalidad con creciente dependencia para el desarrollo de actividades elementales. A los 27 años desarrolló hemiplejía izquierda total con recuperación completa en dos semanas. Muestra asimismo episodios de estado confusional severo y conducta infantil. Los exámenes de laboratorio descartaron cardiopatía, ateroesclerosis y enfermedades autoinmunes sistémicas en el paciente. Estudios neuroimagenológicos del cerebro (TAC, Angio - TEM y RM cerebralcontrastada) pusieron en evidencia seis infartos cerebrales, en estadios subagudos y crónicos, severa estenosis de las arterias cerebrales anteriores y presencia de un microaneurisma en el segmento M de la arteria cerebral media izquierda. Una limitación del presente reporte es la ausencia de estudios con angiografía digital, debida a dificultades económicas. En conclusión, el caso corresponde a un paciente con cefalea crónica asociada a demencia progresiva, en el que estudios de neuroimágenes y pruebas neuropsicológicas sustentan el diagnóstico de deterioro cognitivo asociado a la enfermedad de Moyamoya.

The case of a 32 years old male patient who since age 17 has experienced constrictive headaches of several minutes duration, triggered by physical effort is reported. For the last seven years there, he has presented a progressive cognitive decline cognitive, and marked personality changes, having become extremely dependent even for conducting elemental activities. At the age of 27, he experienced total left hemiplegia from which he completely recovered in two weeks. He also shows severe confusional states and child-like behavior. Laboratory tests ruled out heart disease, atherosclerosis and systemic autoimmune diseases. Brain neuroimaging tests (CT, Angio - TEM and contrasted cerebral MRI) revealed the occurrence of six cerebral infarcts, in subacute and chronic stages, severe stenosis of the anterior cerebral arteries, and presence of microaneurysm in the M segment of the left middle brain artery. A limitation of this report is the absence of a study with digital angiography, due to economic difficulties. In short, the case of a patient with chronic headache associated with progressive dementia is presented, with neuroimaging and neuropsychological tests that support the diagnosis of of cognitive impairment associated with Moyamoya disease.

RESUMO

RESUMEN OBJETIVOS: Presentar algunos casos de pacientes con síndrome de Moyamoya secundario a etiologías diversas y con base en ellos revisar aspectos generales del cuadro; de acuerdo con dos de los casos se propone una nueva hipótesis. MATERIALES Y MÉTODOS: Se describen cuatro casos clínicos de síndrome de Moyamoya, identificados en la ciudad de Medellín, Colombia, con sus respectivas imágenes y la evolución de su cuadro. Con base en dos de los casos, en los cuales el síndrome se desencadenó posteriormente a la implantación de un stent diversor de flujo, se propone una nueva etiología. RESULTADOS: En dos casos se identificó la implantación de un stent diversor de flujo como el desencadenante del cuadro de Moyamoya. En uno de los casos la enfermedad primaria fue una neurofibromatosis tipo 1; en el cuarto caso no fue posible identificar la causa del síndrome. Ninguno de los pacientes presentó compromiso neurológico a pesar del grave daño arterial. CONCLUSIONES: El síndrome de Moyamoya (SMM), más que una entidad independiente, debería ser entendido como un mecanismo compensatorio y defensivo secundario a la deprivación del flujo sanguíneo en la circulación cerebral anterior, el cual protege a los pacientes de eventos cerebrovasculares isquémicos con consecuencias devastadoras. La implantación de stents diversores de flujo como método de tratamiento de algunos aneurismas cerebrales, se proyecta en el tiempo como una de las causas más importantes del síndrome.

SUMMARY OBJECTIVES: To present some cases of patients with Moyamoya syndrome secondary to diverse etiologies, and, based on them, to review general aspects of the clinical picture. Supported on two cases, the hypothesis of a new mechanism is proposed. MATERIALS AND METHODS: Four clinical cases of Moyamoya syndrome are described, identified in the city of Medellín, Colombia, with their respective images and the evolution of their condition. Based on two of the cases, in which the syndrome was triggered after the implantation of a flow-diverter stent, a new etiology is proposed. RESULTS: In two cases, the implantation of a flow-diverter stent was identified as the trigger of the Moyamoya picture. In one case the primary disease was type 1 neurofibromatosis; in the fourth case it was not possible to identify the cause of the syndrome. None of the patients presented neurological compromise despite severe arterial damage. CONCLUSIONS: Moyamoya syndrome (MMS), rather than an independent entity, should be understood as a compensatory and defensive mechanism in response to the deprivation of blood flow in the anterior cerebral circulation, which protects patients from ischemic cerebrovascular events. Implantation of flow-diverter stents, as a method of treatment of some cerebral aneurysms, is projected in time as an important cause of this syndrome.

Assuntos

RESUMO

A doença de Moyamoya é uma grave enfermidade crônica, caracterizada por oclusão das grandes artérias na base do cérebro e é considerada importante causa de acidente vascular cerebral. O objetivo deste estudo consistiu em investigar a experiência e os sentimentos de mães diante do diagnóstico e da evolução da doença de Moyamoya e de seu tratamento em seus filhos. Trata-se de uma pesquisa descritiva, com análises quantitativa e qualitativa. Participaram do estudo oito mães de filhos com diagnósticos da doença de Moyamoya provenientes de três estados da região Sudeste do Brasil. Os dados foram coletados por meio de questionários via página da Internet. Os resultados mostram que o processo de diagnóstico da doença foi vivido com temores e tristeza, agravados pelas dificuldades diagnósticas e escassez de informações. As mães relataram desespero, medo, dificuldade de aceitação, culpa e temor na realização de angiografia cerebral e cirurgia. A fé e a espiritualidade foram referidas como fontes de apoio e de manutenção da esperança. Assinala-se a necessidade de estudos que colaborem para maior esclarecimento sobre a doença e a vivência de doentes e familiares.

Moyamoya disease is as a serious chronic disease characterized by an occlusion of the main arteries of the brain, and it is considered an important cause of stroke. The purpose of this study was to investigate the experiences and feelings of mothers facing their child's diagnosis, progress, and treatment of Moyamoya disease. This is a descriptive study with quantitative and qualitative analyses. Eight mothers of children with Moyamoya disease from three different southeastern states in Brazil participated in the study. Data were collected via Internet questionnaires. The results show that fear and sadness pervaded the mothers' experiences of the disease diagnosis, which was aggravated by the scarcity of information available. Mothers reported feeling despair, anxiety, guilt, difficulty of acceptance, and fear related to cerebral angiography and brain surgery. Faith and spirituality were referred to as sources of support and maintenance of hope. There is a need for further studies that can bring greater clarity about this disease and the experience of patients and their families.

Assuntos

RESUMO

RESUMO A Doença de Moyamoya (DMM) é uma forma incomum de doença cerebrovascular oclusiva que acomete artérias do sistema nervoso central, acarretando alterações adquiridas de linguagem e dificuldades na aprendizagem. O objetivo foi descrever habilidades de linguagem oral/escrita e cognitivas em menina com diagnóstico de DMM de sete anos e sete meses. A avaliação constou de entrevista com pais, Observação do Comportamento Comunicativo, Teste de Vocabulário por Imagem Peabody, Teste de Desempenho Escolar, Perfil de Habilidades Fonológicas, Wechsler Intelligence Scale for Children, Teste Gestáltico Visomotor Bender, Wisconsin Card Sorting Test. Até os seis anos e cinco meses, ocorreram dois episódios de acidente vascular encefálico (AVE) em região temporoparietal esquerda e direita e área frontal esquerda. Realizou cirurgia para revascularização e tratamento medicamentoso. Avaliações audiológicas e oftalmológicas indicaram normalidade. Cursa o segundo ano do ensino fundamental. Apresentou alterações na linguagem oral e escrita (silábico-alfabética); não nomeação de todos os grafemas; escrita e aritmética média-inferior e leitura inferior à primeira série; habilidades do processamento fonológico em nível pré-escolar. A avaliação psicológica indicou nível intelectual satisfatório, porém prejuízo no desempenho cognitivo em tarefas verbais e de execução, limitações nas competências gráfico-percepto-motoras e na organização sequencial lógica. Os episódios de AVEs trouxeram interferências no desempenho dos processos de aprendizagem pelas especificidades das áreas afetadas, interferindo na análise, integração e interpretação de informações auditivas e visuais relevantes para os processos de aprendizagem.

ABSTRACT Moyamoya disease is an unusual form of occlusive, cerebrovascular disorder that affects the arteries of the central nervous system, causing acquired language alterations and learning difficulties. The study aim was to describe the oral/written language and cognitive skills in a seven-year-and-seven-month-old girl diagnosed with Moyamoya disease. The assessment consisted of interviews with her parents and application of the following instruments: Observation of Communicative Behavior, Peabody Picture Vocabulary Test, Academic Performance Test, Profile of Phonological Awareness, Raven’s Progressive Matrices Test, Special Scale, Wechsler Intelligence Scale for Children, Bender Visual Motor Gestalt Test, and Wisconsin Card Sorting Test. Two episodes of stroke in the left and right temporal-parietal and left frontal areas occurred until the age of six years and five months. Revascularization surgery and medication treatment were conducted. The audiologic and ophthalmologic assessments indicated normality. At the time of the study, the girl was attending the second grade of elementary school. She presented changes in oral and written language (syllabic-alphabetic), non-naming of all graphemes, low arithmetic and writing means, reading skill below first grade level and psycholinguistic delay, and pre-school level phonological processing skills. The psychological evaluation indicated satisfactory intellectual level; however, it also showed cognitive performance impairment in verbal and execution tasks and limitations on graphic-perceptual-motor skills and sequential logic organization. The stroke episodes influenced the performance of learning processes, affecting the analysis, integration, and interpretation of relevant visual and auditory information.

Assuntos

RESUMO

Resumen Este caso clínico muestra los resultados del análisis e intervención interdisciplinar que se realizó en una paciente femenina de 8 años diagnosticada a la edad de 3 años con enfermedad de moyamoya. Remitida para evaluación, se encontró estenosis progresiva de las arterias cerebrales. La evaluación del desarrollo motor mostró poca agilidad motora gruesa y fina, bajo tono, debilidad muscular, dificultad para establecer movimientos alternos y simultáneos, además dificultad al masticar y deglutir, por lo que requirió ajuste de la minuta alimenticia por parte de nutrición. Falta de control esfinteriano. En los aspectos cognitivos se evidenció déficit, falta de comprensión de órdenes, desconocimiento de categorías semánticas, falta de seguimiento de instrucciones, tratado por fonoaudiología y terapia ocupacional. Estado emocional preservado, capacidad de establecer vínculos afectivos y empatía; en lo familiar se presentó disfuncionalidad familiar por miembro enfermo, que es el eje central en la dinámica familiar, negligencia familiar con otros miembros, desajuste de roles. Se estableció intervención psicoterapéutica, con enfoque cognitivo conductual, apoyado en el modelo de Terapia Racional Emotiva, Psicoeducación, Terapia familiar sistémica. Seguimiento médico con fármacos y evaluación de pruebas diagnósticas. En tres años de seguimiento se evidenció: adaptación progresiva en adquisición de habilidades sociales, reacciones afectivas en su núcleo familiar y entorno, lo cual permitió concluir que las estrategias adoptadas generaron un cambio significativo en el contexto familiar, con adopción de factores protectores, identificación de roles, cambios en la adherencia, lo que en conjunto permitió mejoras en la calidad de vida y clínica de la paciente.

Abstract The clinical case presented in this article reflects the results of the analysis and interdisciplinary intervention that was performed on a 8 year old female patient diagnose at 3 years old with the Moyamoya disease, she was referred for evaluation, finding progressive stenosis of the brain arteries, the motor development evaluation exhibit low gross and fine motor agility, low muscle tone, muscular weakness, difficulty to set alternating and simultaneous movements, also trouble to masticate and swallowing, so it required adjustment of the food diet in the behalf of her nutrition. Absence of sphincter control. In the cognitive aspects it was evident the lack of understanding orders, lack of semantic categories, failure to follow instructions, it was treated by speech therapy and occupational therapy. Emotional state preserved, ability to bond and empathy, in the familiar aspect it exhibit family dysfunctionality because of sick family member that is now the focus on the family dynamic, family neglect with other members, mismatch roles. Was established psychotherapeutic intervention with cognitive behavioral approach, supported the model of Rational Emotive Therapy, psychoeducation, systemic family therapy. Medical monitoring with drugs and evaluation of diagnostic tests. It was evident in three years follow-up: Progressive adaptation acquisition of social skills, affective reactions in the household and environment, which it led to the conclusion that the strategies adopted generated a significant change in the family context, with adoption of protective factors, identifying roles, changes in adhesion, which together allowed improvements in quality of life and clinical patient.

RESUMO

La enfermedad de moyamoya es una rara afección cerebrovascular, caracterizada por estenosis bilateral de la carótida interna en su porción terminal y por el desarrollo de vasculatura colateral anormal en la base del cerebro, secundario a un proceso isquémico. Su etiología es desconocida, pero se cree que es un trastorno genético. En el presente artículo, a propósito de un caso clínico de un paciente masculino de 24 años de edad con diagnóstico de esta enfermedad luego de un trauma craneano, se presenta una revisión corta de la bibliografía actual en cuanto al diagnóstico por imágenes de la enfermedad de moyamoya.

Moyamoya disease is a rare cerebrovascular disease characterized by bilateral internal carotid artery stenosis in its terminal portion and by the development of abnormal collateral vasculature in the base of the brain, secondary to an ischemic process. Its etiology is unknown, but it is believed to be a genetic disorder. The purpose of this article is a short review of the current literature of diagnostic imaging of moyamoya disease regarding the case of a 24 year old male patient with this condition, diagnosed after head trauma.

Assuntos

RESUMO

La enfermedad de moyamoya (EMM) es una vasculopatía que se caracteriza por una estenosis progresiva (1) dela porción terminal de ambas carótidas internas hasta su oclusión, asociada a una red vascular anormal de vasoscolaterales en la base del cerebro que generan un patrón angiográfico característico semejante a una bocanadade humo o “moyamoya” en japonés, de ahí su nombre, dado en 1969 por Suzuki y Takaku (2, 3). Aunque suetiología es desconocida, se han presentado algunos casos en los cuales se relaciona con otras enfermedades,lo que puede sugerir factores genéticos presentes en su patogénesis. La enfermedad de moyamoya es pocofrecuente a nivel mundial; de hecho, la mayor frecuencia de reporte se da en Japón, con una prevalencia eincidencia de 6,03 y 0,54 por 100.000 habitantes, respectivamente (4), razón por la cual se documentan doscasos de moyamoya presentados en el Hospital Universitario Los Comuneros de Bucaramanga entre diciembrede 2014 y enero de 2015. Dichos casos corresponden a dos pacientes masculinos de 27 y 46 años, quienespresentaron cuadro clínico de dos semanas de evolución de cefalea fuerte y que tras estudios de neuroimagencomo tomografía axial computarizada (TAC) cerebral simple y Angio-TAC para el caso 1 y de tomografíacerebral para el caso 2, fueron diagnosticados con panangiografía cerebral.

Moyamoya disease (MMD) is a vascular disease characterized by a progressive narrowing of the terminal portion of both internal carotid until its occlusion, associated with an abnormal vascular network of collateral vessels in the brain stem which generate a characteristic angiographic pattern that resembles a puff of smoke or moyamoya in Japanese, hence its name, given in 1969 by Suzuki y Takaku, (2, 3). Although its etiology is unknown, there have been some cases where it is related to other diseases, which may suggest genetic factors in its pathogenesis. Moyamoya disease is rare in the world, in fact, it is reported mainly in Japan with a prevalence and incidence of 6.03 and 0.54 per 100 000 inhabitants respectively. Because of this, two cases of moyamoya presented in the Hospital Universitario los Comuneros de Bucaramanga between December of 2014 and January of 2014 were documented. The cases were detected in two male patients of 27 and 46 years old, who presented clinical evolution of two weeks of strong headache, and after neuroimaging studies like Computerized Axial Tomography (CAT) scan and Angiotac for case number 1 and brain tomography for case number 2, they were diagnosed with Pan-angiography.

Assuntos

RESUMO

Objetivo: Relatar uma série de casos de doença moyamoya/síndrome de moyamoya (DMM/SMM) tratados por revascularização cerebral no período de 2001 a 2013. Método: Estudo retrospectivo de 12 pacientes portadores de DMM/SMM submetidos à revascularização cerebral. Resultados: Trêspacientes foram operados por meio de by-pass de alto fluxo, três com by-pass de baixo fluxo e seis por revascularização indireta (encefaloarteriossinangiose associada à galeossinangiose). Realizamosdurante o seguimento: análise da ocorrência de novos acidentes vasculares cerebrais (AVC), avaliação funcional (utilizando a Escala de Rankin Modificada) e das complicações cirúrgicas. O tempo de acompanhamento para o grupo de by-pass de alto fluxo foi de quatro a dez anos, para o grupo de baixo fluxo e revascularização indireta de três meses a três anos. Nenhum paciente apresentou outro AVC no hemisfério operado tampouco piora funcional. As taxas de morbimortalidade e de infecção foram nulas. Conclusão: A revascularização cerebral foi efetiva, prevenindo a ocorrência de novos AVC e evitando piora funcional.

Objective: To report a case series of moyamoya disease/moyamoya syndrome (DMM/SMM) treated by cerebral revascularization in the period 2001-2013. Method: Retrospective study of twelve patients with DMM/SMM submitted to cerebral revascularization. Results: Three patients were operated through high-flow by-pass, three with low flow by-pass and six with indirect revascularization (encephaloarterio-sinangiosis associated with galeo-sinangiosis). Analyzed during follow-up: the occurrence of new strokes, functional assessment (using the modified Rankin scale) and surgical complications. The follow up to the group of high-flow by-pass was 4-10 years for the group of low flow and indirect revascularization of three months to three years. No patient had another cerebrovascular accident (CVA) in the hemisphere operated nor functional worsening. Rates of morbidity and mortality and infection were nil. Conclusion: Cerebral revascularization was effective, preventing the occurrence of new strokesand preventing functional deterioration.

Assuntos

RESUMO

La enfermedad de Moyamoya (EMM) se caracteriza por la estenosis progresiva y la oclusión de las arterias carótidas internas en la base del cráneo. Se observó por primera vez en 1957 por Takeuchi y Shimizu en arteriografías anormales del cerebro. Esto representa el 6 por ciento de los accidentes cerebrovasculares en los niños, y es una enfermedad cerebrovascular importante en este grupo de edad en Japón. La mayoría son casos esporádicos de la EMM, pero hay también una variante familiar que se produce en aproximadamente el 8 por ciento de las veces. El tratamiento de la EMM depende de la presentación clínica del paciente y la etapa de la enfermedad. Las opciones de tratamiento incluyen la observación y el seguimiento, el tratamiento médico y el tratamiento quirúrgico, o incluso combinaciones de ellos. En general, no existe una recomendación establecida en relación con la gestión de la enfermedad, una vez que hay una ausencia de estudios prospectivos aleatorizados con seguimiento razonable. En este artículo realizamos una revisión de la literatura acerca de la EMM, con énfasis en su tratamiento quirúrgico.

Moyamoya disease (MMD) is characterized by progressive stenosis and occlusion of the internal carotid arteries at the base of the skull. It was first observed in 1957 by Takeuchi and Shimizu in abnormal arteriograms of the brain. It accounts for 6 percent of strokes in children, and it is a major cerebrovascular disease in this age group in Japan. Most are sporadic cases of MMD, but there is also a familiar variant that occurs in approximately 8 percent of the times. The treatment of MMD depends on the patient’s clinical presentation and the stage of the disease. Treatment options include observation and monitoring, medical treatment and surgical treatment, or even combinations of them. In general, there is no established recommendation regarding the management of the disease, once there is an absence of prospective randomized trials with reasonable follow-up. In this article we perform a review on the literature about the MMD, with emphasis on its surgical treatment.

Assuntos

RESUMO

El patrón moyamoya se caracteriza por un estrechamiento crónico progresivo de la porción terminal de la arteria carótida interna o sus principales ramas terminales principalmente. Los niños con moyamoya típicamente se presentan con ictus arteriales isquémicos, o con accidentes isquémicos transitorios. Se presenta el caso clínico de un adolescente, con déficit intelectual y macrocránea, con evidencia en los estudios de resonancia magnética nuclear cerebral de infartos arteriales isquémicos a repetición, e imágenes sugestivas de moyamoya, y se comprueba el patrón moyamoya por angiografía de sustracción digital. Comprobado el diagnóstico de enfermedad de moyamoya, el objetivo con este enfermo fue tratar de mejorar la irrigación cerebral, planteando la necesidad de someter al paciente a cirugía de revascularización, y, mientras esto no fuera posible, usar aspirina como antiagregante plaquetario, en un intento de impedir o disminuir el riesgo de nuevos infartos cerebrales o de accidentes transitorios isquémicos a repetición(AU)

The moyamoya pattern is characterized by chronic progressive narrowing of the terminal portion of the internal carotid artery or of its main terminal branches. Children suffering moyamoya disease regularly present with ischemic arterial ictus or transient ischemic strokes. Here is the case of an adolescent with intellectual impairment and macrocrania. The magnetic resonance imaging study of his brain showed repeated ischemic arterial infarctions and images suggestive of moyamoya disease, the pattern of which was later confirmed by digital subtraction angiography. The first objective was to intend to improve his cerebral irrigation by performing a revascularization surgery, but as long as this action was not accomplished, then taking aspirin as anti-platelet aggregation drug could prevent or reduce the risk of new cerebral infarctions or of repeated transient ischemic strokes(AU)

Assuntos

RESUMO

El patrón moyamoya se caracteriza por un estrechamiento crónico progresivo de la porción terminal de la arteria carótida interna o sus principales ramas terminales principalmente. Los niños con moyamoya típicamente se presentan con ictus arteriales isquémicos, o con accidentes isquémicos transitorios. Se presenta el caso clínico de un adolescente, con déficit intelectual y macrocránea, con evidencia en los estudios de resonancia magnética nuclear cerebral de infartos arteriales isquémicos a repetición, e imágenes sugestivas de moyamoya, y se comprueba el patrón moyamoya por angiografía de sustracción digital. Comprobado el diagnóstico de enfermedad de moyamoya, el objetivo con este enfermo fue tratar de mejorar la irrigación cerebral, planteando la necesidad de someter al paciente a cirugía de revascularización, y, mientras esto no fuera posible, usar aspirina como antiagregante plaquetario, en un intento de impedir o disminuir el riesgo de nuevos infartos cerebrales o de accidentes transitorios isquémicos a repetición.

The moyamoya pattern is characterized by chronic progressive narrowing of the terminal portion of the internal carotid artery or of its main terminal branches. Children suffering moyamoya disease regularly present with ischemic arterial ictus or transient ischemic strokes. Here is the case of an adolescent with intellectual impairment and macrocrania. The magnetic resonance imaging study of his brain showed repeated ischemic arterial infarctions and images suggestive of moyamoya disease, the pattern of which was later confirmed by digital subtraction angiography. The first objective was to intend to improve his cerebral irrigation by performing a revascularization surgery, but as long as this action was not accomplished, then taking aspirin as anti-platelet aggregation drug could prevent or reduce the risk of new cerebral infarctions or of repeated transient ischemic strokes.

RESUMO

La enfermedad de células falciformes, aunque infrecuente, es una patología con una alta comorbilidad; el ataque cerebrovascular (ACV) y las malformaciones vasculares por deformidad endotelial, son complicaciones mayores y catastróficas en las pacientes con alteraciones falciformes, es por esto que el adecuado seguimiento de estos pacientes permite prevenir la alta tasa de complicaciones que esta enfermedad conlleva. Se presenta el caso de una mujer de raza negra de 24 años con enfermedad de células falciformes, con infartos cerebrales en la adolescencia y quien durante su gestación se complica con hemorragia intraventricular secundaria a múltiples malformaciones vasculares tipo Moyamoya, desarrollando un estado epiléptico convulsivo y deterioro neurológico irreversible.

Sickle cell disease, although infrequent, is a disease with high comorbidity, stroke and vascular malformations by endothelial deformity are major and catastrophic complications in patients with sickle cell disease, which is why proper monitoring of these patients can prevent the high rate of complications that this disease leads. The situation of a 24 years old african-american woman with sickle cell disease and several strokes during adolescence is exposed. The patient had a complicated pregnancy due to secondary intraventricular hemorrhage and multiple vascular malformations type Moyamoya. She developed a convulsive status epilepticus and an irreversible neurological impairment.

RESUMO

Esse trabalho objetiva relatar de caso de uma criança brasileira, negra, não descendente de japoneses, com doença vascular cerebral rapidamente progressiva, tendo diagnóstico tardio de Doença de Moyamoya. Esta foi submetida a cirurgia de revascularização encefálica por encefalogaleoperiosteosinangiose e apresentou boa evolução pós-operatória. Para tal, a literatura atual foi revista, com enfoque no diagnóstico e tratamento cirúrgico. Baseados nesse trabalho, percebe-se que a doença de Moyamoya está sendo diagnosticada com maior frequência ao redor do mundo, tornando-se necessária sua suspeição para o diagnóstico e tratamento precoces.

This paper aims to report the case of a black Brazilian child, not of Japanese descent, with rapidly progressive cerebral vascular disease and late diagnosis of Moyamoya disease. She was submitted to surgery for brain revascularization through encephalogaleoperiosteosinangiosis, and had an uneventful postoperative course. A literature review was performed with emphasis on diagnosis and surgical treatment.

Assuntos

RESUMO

CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant. CASE REPORT: An eight-month-old female presented convulsive seizures with clonic movements. The patient suffered an ischemic stroke with hemiparesis. Magnetic resonance imaging revealed radiological findings compatible with moyamoya disease. The diagnosis of NF-1 was made at the age of 20 months. CONCLUSION: Despite the rarity of this association in childhood, children with focal neurological symptoms and a diagnosis of NF-1 deserve to be investigated for moyamoya syndrome.

CONTEXTO: Neurofibromatose tipo 1 (NF-1) é a doença genética autossômica dominante mais prevalente no ser humano. A doença de moyamoya é uma vasculopatia cerebral que raramente se encontra associada à NF-1, particularmente na faixa etária pediátrica. Este estudo descreve a ocorrência desta associação em um lactente. RELATO DE CASO: Paciente feminina, aos oito meses de idade, apresentou quadro de crise convulsiva com movimentos clônicos. Evoluiu com acidente vascular encefálico isquêmico e com hemiparesia à direita. Ressonância nuclear magnética mostrou achados compatíveis com a doença de moyamoya. O diagnóstico de NF-1 foi realizado aos 20 meses de vida. CONCLUSÃO: Apesar da raridade desta associação na faixa etária infantil, crianças com sintomas neurológicos focais e diagnóstico de NF-1 merecem ser investigadas para síndrome de moyamoya.

Assuntos

RESUMO

La enfermedad o síndrome de moyamoya es una rara afección que provoca una oclusión de las carótidas intracraneales y determina una red vascular colateral anormal en la base del cráneo y que, por su aspecto arteriográfico, hace ya más de 50 años un grupo de neurocirujanos japoneses denominaron moyamoya, y de la cual persisten muchas interrogantes sin resolver. Se realizó un estudio descriptivo y longitudinal de 19 niños con síndrome o enfermedad de moyamoya. La edad promedio de inicio fue de seis años. Del total de niños incluidos, doce debutaron en forma aguda con infarto cerebral; dos pacientes (con antecedentes de epilepsia y retraso) lo hicieron, uno con infarto y otro con hemorragia cerebral, otros dos con epilepsia y retraso, uno con trastorno del lenguaje, siendo en los dos restantes un hallazgo casual. Entretanto doce pacientes se consideraron idiopáticos (portadores de enfermedad de moyamoya) y siete asociados a enfermedades sistémicas (síndrome de moyamoya). El diagnóstico inicial se confirmó por angiorresonancia en diez casos y por arteriografía convencional en nueve. El seguimiento promedio fue de cinco años, once evidenciaron progresión clínica y ocho estabilidad, con un seguimiento promedio de siete y dos años respectivamente. Todos mostraron progresión angiográfica. En siete niños se realizaron diez cirugías de revascularización sin complicaciones y con buenos resultados clínicos y angiográficos. Dos niños fallecieron (uno por hemorragia cerebral y otro por un infarto expansivo) y catorce presentaron secuelas leves a moderadas. Resulta importante identificar los niños que se pueden beneficiar con la cirugía de revascularización, una de las pocas opciones terapéuticas para evitar la progresión y complicaciones de esta grave enfermedad.

Moyamoya's disease or syndrome is a rare illness wich causes symptoms of cerebral ischemia due to intracranial arteries' stenosis, with secondary abnormal vasculature networks at the base of the brain. Since the first description of moyamoya disease done by a group of Japanese neurosurgeons more than 50 years ago, this rare illness is still considered an intriguing disease. The clinical features, treatment, imaging findings and outcomes of a series of not Asian children with Moyamoya disease are described in this study. A total of 19 six year old patients were analyzed. The initial presentation in 12 patients was infarctions, 2 with epilepsy and mental retardation, another 2 who had personal history of epilepsy and mental retardation developed symptoms of ischemic stroke (one of them), and hemorrhagic stroke the other one; 1experienced language problems, while in the last two the diagnosis was casual. On the other hand, 12 patientes were considered idiopathic cases (moyamoya's disease) and 7 were related to systemic illnes (moyamoya's syndrome). Initial diagnosis was achieved by magnetic resonance angiography in 10 cases, and conventional angiography in 9. All patients were followed up for a mean period of 5 years. While 11 patients experienced clinical worsening of symptoms, 6 asymptomatic. However, all of them showed angiographic progression. Seven patients underwent bypass surgery with no further complications, 2 passed away and 14 remained with moderate handicaps. A number of surgical procedures have been developed for revascularization, improving the outcome of some of these patients by preventing ischemic and hemorrhagic stroke. Due to the fact that moyamoya disease is not a silent disorder and its progress cause complications, surgical revascularization should always be considered in the management of these patients.

Assuntos