Moyamoya disease and syndrome: a review / Doença e síndrome de moyamoya: uma revisão

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.

Trigeminal Cave Brain Metastasis from Prostate Adenocarcinoma: Case Report and Review of the Literature

The present study presents the case of a 66-year-old patient diagnosed with prostate adenocarcinoma 4 years earlier and treated with prostatectomy, radiotherapy, chemotherapy and hormonetherapy but still displaying high prostate-specific antigen (PSA) levels. The patient complaints were double vision and headaches. Upon physical examination, he displayed 6th cranial nerve paresis and 5th cranial nerve paresthesia. Amagnetic resonance imaging (MRI) exam was performed, which revealed a mass on the right trigeminal cave. The patient underwent surgical removal of the tumor, and the pathological analysis of the specimen established metastatic prostate cancer as the diagnosis. Brainmetastases fromprostate cancer are extremely rare and mark advanced disease, with immune system failure and blood-brain barrier breach. Prostate-specific antigen levels do not correlate with the possibility of metastatic disease. Prostate adenocarcinoma is the histologic typemost commonly associated with brainmetastases,with themeninges being more frequently affected, followed by the brain parenchyma. The neurological symptoms more often displayed are non-focal, such as headaches and mental confusion. Surgery associated with radiotherapy is the most validated treatment.

Endovascular Neurosurgery in the Northern Macro-Region of Rio Grande do Sul: Part I

Introduction The city of Passo Fundo, in the north of the Rio Grande do Sul state, has been standing out in the health care field for many years. The state has become a reference in endovascular interventional neuroradiology. We will cover 10 years of experience in this area and divide our observations in 3 parts: cerebral angiograms (part I), carotid angioplasties (part II) and intracranial aneurysms (part III). The goal of part I is to statistically assess the cerebral angiograms, their indications, risks and complications, as well as to do a technical review. Materials and Methods A retrospective study from 2005 to 2015 with a total of 5,567 interventional neuroradiology procedures performed. A total of 4,114 angiograms, 639 embolizations of intracranial aneurysms, 414 carotid angioplasties, 143 embolizations of cerebral arteriovenous malformations, 32 embolizations of dural arteriovenous fistulas, 102 cerebral vasospasm treatments, 21 treatments of epistaxis, 36 embolizations of craniocervical tumor, 25 thrombolysis of ischemic stroke, 18 vertebroplasties and 13 embolizations of arteriovenous malformations of the face. Results A total of 4,084 procedures performed, 21,811 vessels studied, average vase 7.62/2.82 vessel and patient/procedure. Of these, 2,536 were diagnostic procedures and 1,548 angiographic controls. Of the total, 1,188 patients received only an angiogram, 27.14% of which were therapeutic procedures. We obtained a total of 3.89% complications: 2.33% reflection vasovagal, 0.56% allergic skin reaction, anaphylactic shock 0.07%, 0.27% femoral hematoma, 0.26% transient neurological deficit, 0.12% permanent neurological deficit and no case of death. Conclusion Cerebral angiography in adults, children and infants is a safe procedure with low risk of permanent neurological complications.

Concomitant Occurrence of Vestibular Schwannoma and Epidermoid Cyst in Neurofibromatosis: Case description and Review of the Literature

We report a case of a 16-year-old female patient harboring neurofibromatosis type 2 who presented with bilateral hearing impairment, which was on the left side, as well as facial paresis (House-Brackmann grade III) and ataxic gait. A magnetic resonance imaging (MRI) exam evidenced bilateral lesions in the cerebellopontine angles (CPAs) with extension into the internal acoustic meatus, and an additional lesion in the right CPA with radiological characteristics of an epidermoid cyst. The patient was submitted to microsurgical resection, confirming a collision of a vestibular schwannoma and an epidermoid cyst in the right CPA. In the present case report, we describe the first case reported in the literature with preoperative diagnostic work-up, intraoperative findings, postoperative course of the patient, as well as a detailed literature review of these specific coinciding pathologies, denoting the importance of further genomic studies regarding multiple central nervous system (CNS) lesions.

Relatamos o caso de uma paciente de 16 anos de idade com neurofibromatose tipo II com deficiência auditiva bilateral, pior no ouvido esquerdo, assim como paresia facial (HouseBrackmann grau III) e ataxia. Estudo de ressonância magnética comprovou lesão bilateral nos ângulos cerebelopontinos (ACPs) com extensão ao meato acústico interno, e uma lesão adicional no ACP direito com características radiológicas de um cisto epidermoide. A paciente foi submetida a ressecção microcirúrgica, confirmando a colisão de um schwannoma vestibular com um cisto epidermoide no ACP direito. No presente estudo, descrevemos o primeiro caso relatado na literatura com trabalho diagnóstico pré-operatório, resultados intraoperatórios, evolução da paciente no pós-operatório, assim como revisão detalhada da literatura específica sobre essas patologias, demonstrando a importância de mais estudos genômicos sobre as múltiplas lesões do sistema nervoso central (SNC).

Orbital Lymphangioma: Case Report and Management Paradigms

Introduction Lymphangioma is a rare congenital vascular malformation of the head and neck region isolated from the systemic circulation. It has a benign etiology, and represents 1­3% of all orbital tumors. These hamartomas often present in the pediatric population with a slightly female predilection. They have a lymphocytic composition, and may increase in size with episodes of viral infection, causing proptosis. Discussion The management of this lesion is controversial, hardly curative, and depends on the clinical presentation. The treatment options include partial surgical resection of the major cyst, needle aspiration, surgical debulking, systemic steroids, sildenafil, intralesional injection of the sclerosing agents, and local radiotherapy. Case Report In the present report, we describe an uncommon case of lymphangioma in a 6-year-old female who was first submitted to neurosurgery for tumor resection and received sildenafil therapy later, with promising results. Conclusion The treatment of orbital lymphangiomas remains a controversial topic, and the use of sildenafil along with needle aspiration and microsurgical removal is a viable option of treatment. However, many issues, such as the ideal duration of the therapy, the dosage regimen and the recurrence rate, still remain unclear. Our case report adds promising data on this pathology, even though larger trials are needed to properly elucidate the remaining questions.

Introdução Linfangioma é uma malformação vascular rara congênita da cabeça e da região cervical isolada da circulação sistêmica. Apresenta uma etiologia benigna e representa 1­3% de todos tumores orbitais. Estes hematomas geralmente se apresentam na população pediátrica com uma pequena predileção pela população feminina. Têm uma composição linfocítica e podem aumentar em tamanho com episódios de infecções virai causando proptose. Discussão O manejo destas lesões é controverso, dificilmente curativo e depende na apresentação clínica. Opções de tratamento compreende ressecção cirúrgica parcial do cisto de maior volume, aspiração por agulha de punção, redução cirúrgica, esteroides sistêmicos, Sildenafil, administração intralesional de agentes esclerosantes, e radioterapia local. Relato de Caso No presente relato, descrevemos um caso incomum de linfangioma em uma paciente feminina de seis anos de idade, inicialmente submetida a procedimento neurocirúrgica para ressecção tumoral, com posterior terapia com Sildenafil, apresentando resultados promissores. Conclusão O tratamento de linfangiomas de órbita permanece um tópico controverso, e o uso de Sildenafil em conjunto com aspiração por agulha de punção e ressecção microcirúrgica é uma opção viável de tratamento. Entretanto, muitas quesitos tais como tempo de terapia, regime de dose e taxa de recorrência permanecem incertos. Nosso relato de caso contribui com dados promissores referente a esta patologia, ainda que ensaios maiores são necessários para elucidação apropriada acerca das questões pendentes.

Ganglioglial differentiation in a medulloblastoma with extensive nodularity / Diferenciação ganglioglial em um meduloblastoma com extensa nodularidade

We report the case of a 2 month-old patient with a large, probably congenital, posterior fossa tumor. Hematoxylin and eosin staining (HE), reticulin and immunohistochemistry revealed a medulloblastoma with extensive nodularity, showing ganglioglial differentiation, high proliferative index in the primitive neuroectodermal tumor (PNET) area and low proliferative index in the ganglioglial maturation area. Ganglioglial differentiation is a rare event in medulloblastomas and its mechanism is still unknown. Previous surgery, radiation and chemotherapy may contribute to differentiation in astrocytic and nerve cells. In this case, however, the differentiation was already present in the first specimen, prior to any surgical or therapeutic procedure.

Paciente de dois meses de idade apresentando grande tumor, provavelmente congênito, de fossa posterior. As colorações de hematoxilina e eosina (HE), reticulina e imuno-histoquímica revelaram meduloblastoma com extensa nodularidade, exibindo diferenciação ganglioglial, alto índice proliferativo na região de tumor neuroectodérmico primitivo e baixo índice proliferativo na área de maturação ganglioglial. Diferenciação ganglioglial é um evento raro em meduloblastomas e seu mecanismo ainda é desconhecido. Cirurgia prévia, radiação e quimioterapia podem contribuir para diferenciação em células astrocitárias e nervosas. Neste caso, entretanto, a diferenciação já estava presente no primeiro espécime, antes de cirurgias prévias ou procedimentos terapêuticos.