Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient

Abstract: Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with important ischemic cerebrovascular events. Despite the rarity of this association in childhood, children diagnosed with neurofibromatosis type 1 and focal neurologic symptoms should be investigated for moyamoya syndrome. The present study reports the case of a pediatric patient with a rapidly progressive cerebrovascular accident and a late diagnosis of Neurofibromatosis type 1 associated with moyamoya disease.

Enfermedad de Moyamoya: reporte de un caso / Moyamoya disease: a case report

La enfermedad de Moyamoya es una patología caracterizada por la estenosis progresiva de la arteria carótida interna y sus ramas principales. Es de etiología desconocida, tiene como forma de presentación a la enfermedad cerebrovascular isquémica o hemorrágica, siendo la primera más frecuente, y afecta en mayor proporción a niños y adultos jóvenes constituyendo un reto diagnóstico. Su presencia se confirma mediante la angiografía por sustracción digital (ASD) y el manejo es médico y/o quirúrgico, siendo el último el que se asocia a un mejor pronóstico. Comunicamos el caso de un paciente peruano de ascendencia japonesa, sin factores de riesgo, con una hemorragia intracraneal cuyo diagnóstico final fue enfermedad de Moyamoya...

Moyamoya disease is characterized by progressive stenosis of the internal carotid artery and its main branches. The cause of the disease is unknown, ischemic or hemorrhagic stroke are the main manifestations (the former is more common) that disproportionately affect children and young adults, and is consider a diagnostic challenge. Its presence is confirmed by digital subtraction angiography (DSA) and the management may be medical or surgical, being the latter associated with a better prognosis. We report the case of a Peruvian male of Japanese ancestry without risk factors, with an intracranial hemorrhage who was finally diagnosed with Moyamoya disease...

Moyamoya disease: a review with emphasis on its surgical treatment / Enfermedad de Moyamoya: una revisión con énfasis en su tratamiento quirúrgico

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.

Moyamoya induced acute paraplegia in a child with epilepsy

Moyamoya disease [MMD] is a chronic, occlusive, cerebrovascular disorder of unknown pathogenesis, characterized by progressive stenosis of the bilateral supraclinoid internal carotid arteries, with concomitant formation of tortuous arterial collateral vessels at the base of the brain, which reconstitute distal branches of the cerebral circulation. In Japanese, "Moyamoya" means "hazy puff of smoke" and refers to the angiographic appearance of the abnormal network of vessels that develop at the base of the brain and basal ganglia to supply of collateral route of blood flow. We report here the case of Moyamoya disease in a 5 year-old girl with normal mentality with a one year history of epilepsy, with Todd's paralysis. This condition is rare and most patients are diagnosed in childhood. With this report we aim to underscore the possibility that usual neurological sign could be associated with unusual neurological disorders