Neurofibroma plexiforme gigante del nervio ciático en una adulta burkinesa / Giant plexiform neurofibroma of the sciatic nerve in a Burkinabé adult

Se presenta el caso de una paciente de 36 años de edad con antecedente patológico de enfermedad de Von Reklinghausen, quien fue asistida en el Servicio de Cirugía General del Centro Hospitalario de Kossodô en Burkina Faso por presentar un tumor gigante en la región posterior del muslo derecho. Los exámenes complementarios confirmaron el presunto diagnóstico de neurofibroma plexiforme gigante del nervio ciático. Durante el procedimiento quirúrgico se extirpó un tumor infrecuente cuyo peso excedió los 22,5 kg. Con el tratamiento rehabilitador posoperatorio del miembro operado la paciente evolucionó satisfactoriamente y se le dio el alta hospitalaria 7 días después.

The case report of a 36 years patient with pathological history of Von Reklinghausen disease is presented. She was assisted in the General Surgery Service of the Hospital Center from Kossodô in Burkina Faso presenting a giant tumor in the back region of the right thigh. The complementary exams confirmed the presumed diagnosis of giant plexiform neurofibroma of the sciatic nerve. During the surgical procedure an uncommon tumor was removed which weight exceeded the 22.5 kg. With the postoperative rehabilitative treatment of the operated member the patient had a favorable clinical course and she was discharged from the hospital 7 days later.

Cifoescoliosis severa secundaria a neurofibromatosis. Presentación de un caso / Severe kyphoscoliosis secondary to neurofibromatosis. Case presentation

La escoliosis distrófica de la neurofibromatosis se caracteriza por ser una cifoescoliosis de ángulo agudo que compromete un segmento corto de la columna vertebral y genera una gran deformidad que, sumada a los cambios distróficos de la columna, convierte a los gestos quirúrgicos para su corrección en verdaderos retos. Se presenta a un varón de 15 años con cifoescoliosis toracolumbar distrófica severa con ápice en T9, ángulo de Cobb 107° de escoliosis y 110,7° de cifosis segmentaria. Se realiza una cirugía por vía posterior en tres tiempos, mediante una resección de la columna vertebral y reemplazo con malla de titanio; se logra una corrección de la cifosis y la escoliosis del 56% y 59,8%, respectivamente. El paciente no tuvo complicaciones mayores, ni secuelas, y la evolución fue favorable. La resección de la columna vertebral es una técnica quirúrgica potente y desafiante para el manejo de la deformidad cifoescoliótica compleja necesaria para lograr el equilibrio espinal, aunque no está exenta de complicaciones, sobre todo neurológicas y pulmonares, a veces, inevitables. La calidad de vida de nuestro paciente tuvo una mejoría importante. Nivel de Evidencia: IV

Dystrophic scoliosis in neurofibromatosis is identifiable by being an acuteangle kyphoscoliosis involving a short segment of the spine and producing severe deformity that when associated with the dystrophic changes of the spine result in real surgical challenges. We report the clinical case of a 15-year male with severe dystrophic kyphoscoliosis at the thoracolumbar area, with apex at T9, scoliosis with a Cobb angle of 107 °, and segmental kyphosis of 110.7°. The patient underwent a three-stage surgery, performed through a posterior approach, involving a vertebral column resection (VCR) and titanium mesh replacement, and achieving a kyphosis correction of 56% and a scoliosis correction of 59.8%. The patient experienced no major complications nor sequelae and had a favorable course. The VCR is a powerful and demanding surgical technique that allows for the management of the complex kyphoscoliosis deformity to achieve spinal balance; however, it is not without complications, especially neurological and pulmonary complications, which may be unavoidable. Our patient's quality of life has improved significantly. Level of Evidence: IV

Neurofibromatosis tipo 1: seudoaneurisma de arteria temporal / Neurofibromatosis type 1: temporal artery pseudoaneurysm

Neurofibromatosis is a disease caused by a mutation on chromosome 17, and was described by Friedrich Daniel von Recklinghausen in 1882. It is characterized by the appearance of benign tumors in different organs that can occasionally turn malignant. Four types of neurofibromatosis are described; being type 1 the most frequent, produced by mutations in NF1 gene inhibiting neurofibromin, and in a small percentage of cases by 17q11 microdeletion. In 50% of cases, it is autosomal dominant and the penetrance is 100%. Its prevalence is 1/3000 births and affects both sexes equally. The diagnosis is done by the presence of characteristic signs and can be corroborated through genetic studies. It usually manifests in childhood and involves skin issues, formation of multiple neurofibromas, gliomas of the optic pathway, hamartomas of the iris, bone malformations, arterial hypertension, vascular alterations, intracranial and peripheral nerve sheath tumors, seizures, hydrocephalus, cognitive deficits and learning difficulties. Vascular disease is a rare complication that is usually asymptomatic and can affect the vessels that go from the proximal aorta to small arterioles, including arterial stenosis, aneurysms and arteriovenous malformations. The prognosis is usually good, with neoplasms and vascular diseases being the cause of early mortality. We present the case of a patient with a diagnosis of neurofibromatosis type 1 who presents a rupture of a pseudoaneurysm dependent on the left temporal artery with a fistula with drainage to the superficial facial vein that resulved favorably by endovascular treatment.

La neurofibromatosis es una enfermedad producida por una mutación en el cromosoma 17; fue descrita por Friedrich Daniel von Recklinghausen en 1882. Se caracteriza por la aparición de tumores benignos en distintos órganos que, ocasionalmente, pueden malignizarse. Se describen cuatro tipos de neurofibromatosis; la más frecuente es la de tipo 1, que se produce por mutaciones en el gen NF1, inhibiendo la neurofibromina, y en un pequeño porcentaje de casos por microdeleción 17q11. En el 50% de los casos es autosómica dominante y la penetrancia es del 100%. Su prevalencia es de 1/3000 nacidos vivos y afecta por igual a ambos sexos. El diagnóstico se efectúa por la presencia de signos característicos y puede corroborarse por medio de estudios genéticos. Suele manifestarse en la infancia y comprometer la piel, con formación de múltiples neurofibromas, gliomas de la vía óptica, hamartomas del iris, malformaciones óseas, hipertensión arterial, alteraciones vasculares, tumores intracraneales y de las vainas de nervios periféricos, convulsiones, hidrocefalia, déficit cognitivo y dificultades del aprendizaje. La enfermedad vascular es una complicación rara que suele ser asintomática, puede afectar los vasos que van desde la aorta proximal hasta las arteriolas pequeñas, incluyendo estenosis arteriales, aneurismas y malformaciones arteriovenosas. El pronóstico suele ser bueno; las causas de mortalidad temprana son las neoplasias y las vasculopatías. Presentamos el caso de un paciente con diagnóstico de neurofibromatosis tipo 1 que presentó ruptura de seudoaneurisma dependiente de la arteria temporal izquierda, con fístula con drenaje a la vena facial superficial, que se resolvió favorablemente mediante tratamiento endovascular

Schwannoma axilar. Reporte de un caso y revisión de la literatura / Axillary Schwannoma. Case report and literature reviewz

Introducción: El schwannoma (neurinoma o neurilemoma) es un tumor benigno originado en la vaina de mielina de los nervios periféricos a partir de la células de Schwann. En su variedad benigna es el tumor más frecuente dependiente de esta estructuras. Se manifiesta entre la tercera y quinta década de vida, sin distinción de género. La localización axilar es extremadamente infrecuente, constituyendo el 5% de todos los casos reportados. Los schwannomas son tumores bien delimitados y de lento crecimiento. La presentación más frecuente es como masa palpable o por la sintomatología clínica correspondiente al territorio de inervación del nervio afectado. Es importante tener en cuenta que estas lesiones puedes formar parte de cuadros clínicos de base genética más complejos como la neurofibromatosis, entre otros. El método diagnóstico de elección es la resonancia magnética nuclear. El tratamiento consiste en la extirpación de la lesión tratando de preservar la función de la estructura nerviosa afectada. Objetivo: El objetivo del presente trabajo es realizar el reporte de un caso de lesión compatible con schwannoma axilar y realizar un revisión de la literatura.

Introduction: Schwannoma (neurinoma or neurilemoma) is a benign tumor originated in myelin sheath of peripheral nerves from schwann cells. In its benign variety, it is the most frequent tumor dependent of these structures. It appears between the third and fifth decade of life without distinction of geder. Axillary location is extremely rare, accounting for 5% of all reported cases. Schwqnnomas are well-defide, slow-growing tumors. The most frequent presentation is as palpabel mass or due to the clinical symptoms corresponding to the innervation territory of the affected nerve. It's important to know that these lesions can be part of more complex genetic-based clinical cases such as neurofibromatosis. The diagnostic method of choice is magnetic resonance imaging. Treatment cosists of excising the lesion, trying to preserve the function of the affected nerve structure. Objetive: The aim of this report is to describe our experience with one case of axillary schwannoma diagnosed in our institution and to perform a review of the literature.

Solitary central neurofibroma of the maxilla: A Case Report / Neurofibroma central de maxilla: relato de caso

Neurofibroma is a benign tumor which rarely occurs in the oral cavity. Generally, oral neurofibroma is part of a neurofibromatosis type-1 like syndrome (Von Recklinghausen's disease) and rarely occurs as a solitary lesion of oral cavity. Up to now, few cases have been reported with the solitary neurofibromas of tongue and submandibular gland. The tumor can also be rarely located centrally in the bone. This research presents a central neurofibroma case in the maxillary bone which has no relationship with the neurofibromatosis. (AU)

O neurofibroma é um tumor benigno que raramente ocorre na cavidade oral. Geralmente, oral neurofibroma é parte de da neurofibromatose tipo 1 (Von Recklinghausen's doença) e raramente ocorre como uma lesão solitária da cavidade oral. Até agora, poucos casos foram relatado com os neurofibromas solitários de língua e glândula submandibular. O tumor também raramente pode estar localizado centralmente no osso. Esta pesquisa apresenta um neurofibroma central caso no osso maxilar que não tem relação com a neurofibromatose (AU)

Neurofibromatose tipo 1 com acometimento do nervo infraorbital: relato de caso / Neurofibromatosis type 1 with infraorbital nerve involvement: a case report

A neurofibromatose tipo 1 é uma doença autossômica dominante rara, com manifestações clínicas diversas. Sua apresentação mais marcante é a presença de neurofibromas (tumores da bainha neural) cutâneos ou internos, que também podem ocorrer de forma esporádica, associados a outras manifestações sistêmicas, como manchas café com leite e lesões oculares. Por serem tumores da bainha de mielina, os neurofibromas podem acometer diversos nervos periféricos, incluindo nervos da face. Apresentamos o caso de um paciente de 1 ano, portador de neurofibromatose tipo 1, com neurofibroma em nervo infraorbital direito, com o acesso proposto para tratamento cirúrgico que fornecesse ampla visualização e acesso a lesão, sem comprometimento estético importante, permitindo preservação de partes moles e adequado crescimento facial.

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease with multiple clinical manifestations. Its most significant presentation is cutaneous or subcutaneous neurofibromas (myelin sheath tumors), which may be associated with other systemic manifestations such as caféau- lait spots and eye involvement. Neurofibromas can affect several peripheral nerves, including the facial nerves. This report presents a case of a 1-year-old patient with NF1 with right infraorbital nerve neurofibroma in which the proposed access for surgical treatment allowed adequate visualization of the tumor with good aesthetic results, preservation of the soft tissues, and normal facial growth.

Tumor de plexo braquial con extensión cervico torácica en paciente pediátrico / Brachial plexus tumor with cervical thoracic extension in a pediatric patient

Introducción: Los tumores de plexo braquial constituyen una entidad infrecuente. Cuando la lesión cumple con criterios quirúrgicos, el tratamiento ideal es la exéresis completa. Descripción del caso: Paciente pediátrica con antecedentes de neurofibromatosis que consulta por dolor leve y parestesias episódicas. Presenta masa palpable en región supraclavicular izquierda de consistencia duro elástica con signo de Tinel negativo. Se realiza una exéresis completa del neurofibroma mediante una cervicotomía anterior. Discusión: La indicación quirúrgica fue realizada en base al crecimiento tumoral y su efecto de masa sobre estructuras contiguas, los trastornos sensitivos y su antecedente de NF1, que predispone a variantes malignas. La clavícula suele ser el elemento anatómico que define las principales vías de abordaje al plexo braquial. Conclusión: Dejamos reportado un caso de neurofibroma de plexo braquial en una paciente pediátrica con neurofibromatosis. Describimos como la cervicotomía anterior fue una excelente vía a una masa extensión cervico torácica

Introduction: Brachial plexus tumors are an infrequent entity. When the lesion meets surgical criteria, the ideal treatment is its complete removal. Case report: A pediatric patient with a history of neurofibromatosis consults for mild pain and episodic paresthesias. The patient presented to the hospital for an elastic palpable mass in the left supraclavicular region testing negative for Tinel's sign. Complete removal of the neurofibroma was performed through an anterior cervicotomy. Discussion: The surgical indication was made based on the growth of the tumor and its mass effect on contiguous structures, the patient's sensory disorders and her neurofibromatosis history, which predisposes to malignant variants. The clavicle is usually the anatomical element defining the main approaches to the brachial plexus. Conclusion: The purpose of this article was to present a case of a of brachial plexus neurofibroma in a pediatric patient with neurofibromatosis. The anterior cervicotomy it would seem to be an excellent approach to a cervical thoracic extension mass

Neurofibromatosis tipos 1 y 2 / Neurofibromatosis type 1 and 2

La neurofibromatosis (NF) comprende un grupo de enfermedades genéticas de herencia autosómica dominante, que se clasifican de la siguiente manera: neurofibromatosis tipo 1 (NF1), neurofibromatosis tipo 2 (NF2) y schwannomatosis (también conocida como neurofibromatosis tipo 3). Esta última es una enfermedad muy infrecuente, con una prevalencia aproximada de 1/126 000 personas, por lo que solo profundizaremos las dos primeras. La NF1, también conocida como la enfermedad de Von Recklinghausen, es la más frecuente de las tres y afecta principalmente la piel y el sistema nervioso periférico. Se caracteriza por la presencia de máculas "café con leche", pecas axilares o inguinales, nódulos de Lisch (hamartomas en el iris) y neurofibromas (tumores de la vaina de nervios periféricos). Otras manifestaciones menos frecuentes, aunque de mayor gravedad, incluyen gliomas del nervio óptico, meningiomas, neurofibromas malignos, escoliosis y displasia de la tibia. Su diagnóstico se suele realizar al nacimiento o durante los primeros años de vida, y se estima que un 50% de quienes la padecen presenta dificultades cognitivas. No hay datos concluyentes sobre la mortalidad en los pacientes con NF1, aunque se sabe que la expectativa de vida es menor que en la población general. La NF2 tiene una prevalencia considerablemente menor que la NF1 y su inicio es más tardío, afectando principalmente a adultos jóvenes. La presentación clínica típica se caracteriza por acúfenos, hipoacusia y ataxia en contexto de la presencia de schwannomas vestibulares bilaterales. Otros hallazgos menos frecuentes incluyen schwannomas de nervios periféricos, meningiomas, ependimomas o astrocitomas. La esperanza de vida es de unos 36 años, con una supervivencia media desde el momento del diagnóstico de 15 años. (AU)

Neurofibromatosis (NF) includes a group of genetic diseases with an autosomal-dominant inheritance pattern, and they are classified as follows: Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and Schwannomatosis (also known as neurofibromatosis type 3). This last one is a very rare disease, with an approximate prevalence of 1/126000, so we will only deepen in the first two. NF1, also known as von Recklinghausen disease, is the most frequent, and mainly affects the skin and peripheral nervous system. Its typical manifestations are the presence of café-au-lait macules, axillary or inguinal freckles, Lisch nodules (hamartomas in the iris) and neurofibromas (peripheral nerve sheath tumors). Less frequent manifestations, although more serious, include optic nerve gliomas, meningiomas, malignant neurofibromas, scoliosis and tibial dysplasia. The diagnosis is usually made at birth or during the first years of life, and approximately 50% of patients present cognitive difficulties. There is no conclusive data on mortality in patients with NF1, although it is known that life expectancy is lower than in general population. NF2 has a considerably lower prevalence than NF1, and its onset is later in life, mainly affecting young adults. Its typical clinical presentation is characterized by tinnitus, hearing loss and ataxia in the context in the presence of bilateral vestibular schwannomas. Less frequent findings include peripheral nerve schwannomas, meningiomas, ependymomas or astrocytomas. Life expectancy is about 36 years old, with a median survival from the moment of diagnosis of 15 years. (AU)

A pessoa com o diagnóstico de uma condição genética como informante-chave do campo das doenças raras - uma perspectiva pela sociologia do diagnóstico / The individual with the diagnosis of a genetic condition as a key informant in the field of rare diseases - a perspective from the sociology of diagnosis

Resumo Em um panorama diferente da maioria dos trabalhos do campo das chamadas doenças raras, esse artigo transpõe os limites das associações para chegar até as pessoas que vivem com o diagnóstico de uma condição genética e entendida como doença rara, a Neurofibromatose (NF). Nesse trajeto, utiliza-se da ainda nascente Sociologia do Diagnóstico para identificar tanto o impacto quanto as consequências do diagnóstico na vida das pessoas. Como resultado entende-se que devemos superar o olhar caritativo sobre as pessoas que vivenciam o diagnóstico de uma condição genética, o doente, para, como um informante-chave, captar as contribuições para melhorar os serviços de saúde e as nossas relações sociais.

Abstract Adopting a different viewpoint from most of the work in the field of so-called rare diseases, this paper crosses the boundaries of the associations to reach people living with the diagnosis of a genetic condition, which is understood as being a rare disease, namely neurofibromatosis (NF). In this respect, the incipient Sociology of Diagnosis is utilized to identify both the impact and the consequences of the diagnosis in people's lives. As a result, the consensus is that it is necessary to transcend the charitable outlook on people who experience the diagnosis of a genetic condition, by perceiving the patient as a key informant in order to collect input to improve health services and our social relations.

Correction of severe dystrophic scoliosis in neurofibromatosis 1 with posterior vertebral column resection in multiple levels / Correção da escoliose distrófica grave na neurofibromatose 1 por vertebrectomia posterior múltiplos níveis / Corrección de escoliosis distrófica grave en neurofibromatosis 1 con vertebrectomía posterior en múltiples niveles

ABSTRACT Objective To evaluate the results after multiple posterior vertebral column resection (PVCR) in patients with severe kyphoscoliosis secondary to neurofibromatosis type 1 (NF-1). Methods Retrospective study of 4 adult male patients, mean age of 26.5 years, with severe rigid deformity, mean kyphosis of 122º and scoliosis of 88º, through clinical analysis and complementary exams. Results The mean postoperative follow-up was 27 months. Three vertebrae were resected on average. Interbody consolidation of arthrodesis was confirmed by CT in all cases. The correction rates of sagittal and coronal deformities were 54.09% and 70.45%, respectively. Prior to surgery, all patients were neurologically intact and as a post-surgical complication one patient had motor deficit (ASIA D) and pneumothorax also occurred in two patients. Conclusions The correction of severe kyphoscoliosis in adult patients with NF-1 is technically demanding and is not free of major complications. However, in view of the limited possibility of correction of these deformities, multiple-level PVCR has proved to be a safe and effective technique. Level of evidence IV; Case Series.

RESUMO Objetivo Avaliar os resultados após a ressecção vertebral posterior (RCVP) múltiplos níveis em pacientes portadores de cifoescoliose grave secundária à neufibromatose tipo 1 (NF-1). Métodos Estudo retrospectivo de 4 pacientes: adultos do sexo masculino, idade média de 26,5 anos, portadores de deformidade rígida e grave, cifose média de 122º e escoliose média de 88º, por meio da análise clínica e exames complementares. Resultados O seguimento pós-operatório médio foi de 27 meses. Foram ressecadas, em média, três vértebras. Consolidação intersomática da artrodese foi confirmada por TC em todos os casos. As taxas de correção das deformidades sagital e coronal foram de 54,09% e 70,45%%, respectivamente. Previamente à cirurgia, todos os pacientes eram neurologicamente intactos e, como complicação, um paciente apresentou déficit motor (ASIA D). Ocorreu ainda pneumotórax em dois pacientes. Conclusão A correção da cifoescoliose grave em pacientes adultos portadores NF-1 é tecnicamente exigente e não está isenta de complicações maiores. Porém, diante da possibilidade restrita de técnicas de correção dessas deformidades, a RCVP múltiplos níveis mostrou-se uma técnica segura e eficaz. Nível de evidência IV; Série de Casos

RESUMEN Objetivo Evaluar los resultados después de la resección vertebral posterior (RPCV) en múltiples niveles en pacientes con cifoescoliosis grave secundaria a neurofibromatosis tipo 1 (NF-1). Métodos Estudio retrospectivo de 4 pacientes adultos del sexo masculino, con promedio de edad de 26,5 años, con deformidad rígida grave, cifosis promedio de 122º y escoliosis promedio de 88º, mediante un análisis clínico y exámenes complementarios. Resultados El seguimiento postoperatorio promedio fue de 27 meses. Tres vértebras fueron resecadas en promedio. La consolidación de la artrodesis intersomática fue confirmada por la TC en todos los casos. Los porcentajes de corrección de las deformidades coronales y sagitales fueron de 54,09% y 70,45%, respectivamente. Antes de la cirugía, todos los pacientes estaban intactos neurológicamente y un paciente tuvo déficit motor como complicación (ASIA D) y dos pacientes tuvieron neumotórax. Conclusiones La corrección de la cifoescoliosis graves en pacientes adultos con NF-1 es técnicamente exigente y no está exenta de complicaciones mayores. Sin embargo, en vista de la posibilidad limitada de corrección de estas deformidades, la RPCV de múltiples niveles ha demostrado ser una técnica segura y eficaz. Nivel de evidencia IV; Serie de Casos.

Efecto de la fisioterapia en un paciente con neurofibromatosis tipo II: Reporte de un caso / Effect of physiotherapy in a patient with neurofibromatosis type II: A case report

La fisioterapia en pacientes con lesión neurológica degenerativa puede mejorar la capacidad funcional permitiéndole una participación social activa y una mejor calidad de vida mientras la evolución de la enfermedad lo permita. Se describe los efectos de la fisioterapia en un paciente con lesión medular secundaria a Neurofibromatosis tipo II. La intervención se basó en terapias cardiorrespiratoria, funcional y deportiva. Se obtuvo en el paciente mayor funcionalidad para caminar, mejor autoestima y capacidad física para trabajar. (AU)

Physiotherapy in patients with degenerative neurologic conditions may improve functional capacity allowing a better quality of life and active social participation, as long as the progression of disease allows it. We report the effects of physiotherapy in a patient with medullar involvement due to type II neurofibromatosis. Interventions were based on cardiorespiratory, functional and sport interventions. The intervention attained better functionality to walk, better self-confidence and physical capacity to work. (AU)

Utilidad de la 18F-FDG PET/TC en la valoración de tumores de la vaina nerviosa / The Value of 18F-FDG PET/TC in the Assessment of Peripheral Nerve Sheath Tumors

La 18F-FDG PET/TC tiene un papel importante en la evaluación de los tumores de la vaina nerviosa periférica, especialmente para determinar la posibilidad de malignidad y el sitio idóneo para la toma de biopsia. Se expone el caso de una mujer de 34 años de edad con diagnóstico de tumor de vaina nerviosa periférica, localizado en el mediastino posterior, que generó síndrome de vena cava superior y síndrome de Horner. Se realizó 18F-FDG PET/TC para hacer el diagnóstico diferencial entre benignidad y malignidad. Se encontró masa heterogénea con áreas hipermetabólicas que alcanzaban un SUVmax (valor de captación estándar máximo) de 8,5, hallazgos que sugerían origen maligno con diferentes grados de diferenciación. La biopsia de los lugares con mayor metabolismo arrojó el resultado de tumor maligno de vaina nerviosa periférica.

18F-FDG PET/CT is a useful imaging modality in the diagnosis and follow-up of peripheral nerve sheath tumors, especially in the assessment of tumor grade and biopsy guidance. The case of a 34-years-old woman diagnosed with peripheral nerve sheath tumor located in the posterior mediastinum that generated superior vena cava syndrome and Horner syndrome is presented. 18F-FDG PET/TC was performed to assess the possibility of malignancy. An 18F-FDG PET/CT was performed to determine whether it was benign or malignant, a heterogeneous mass with hypermetabolic areas with a maximum standardized uptake value (SUVmax) of 8.5 was found, and suggested malignancy with multiple grades of differentiation. A tumor biopsy from the region of higher metabolism was recommended with pathology result of malignant peripheral nerve sheath tumor.

Síndrome de Moyamoya: una respuesta defensiva al daño crónico de un gran vaso cerebral Reporte de una serie de casos y revisión de la literatura / Moyamoya syndrome: a defensive response to the chronic damage of a large cerebral vessel. Cases report and review of the literature

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.

Neurofibroma plexiforme gigante: tratamento cirúrgico / Neurofibroma plexiforme Giant: surgical treatment

Contexto: Neurofibromatose (NF) é desordem neuroectodérmica; apresenta manifestações na pele, sistema nervoso, olhos e ossos. A variante tipo 1 (NF-1) é a mais frequente na população, tendo como critério diagnóstico a presença de pelo menos dois dos seguintes achados: seis ou mais manchas "café com leite" maiores que 0,5 cm em pré-púberes ou maiores que 1,5 cm após a puberdade; efélides axilares ou inguinais; dois ou mais neurofibromas ou um neurofibroma plexiforme; dois ou mais nódulos de Lisch; glioma óptico; displasia óssea e um parente de primeiro grau com NF-1. Descrição do caso: Paciente com 24 anos de idade, sexo masculino, apresentava efélides axilares; múltiplas máculas "café com leite" maiores que 1,5 cm distribuídas no tronco, dorso e membros inferiores; tumoração amolecida na região lombo-sacra à esquerda, compatível com neurofibroma plexiforme. Hipótese diagnóstica: neurofibromatose tipo 1 (NF-1). Realizada excisão do neurofibroma, o exame histopatológico não evidenciou transformação maligna. Discussão: NF-1 tem elevada prevalência na população (um caso em cada 3.000 habitantes). Neurofibromas plexiformes (NP) são neurofibromas que se estendem ao longo do trajeto de um nervo. Podem sofrer degeneração maligna a tumores da bainha do nervo periférico, sendo esta a principal causa de morte. Conclusão: A NF, especialmente a tipo 1, apresenta a possibilidade de acometimento multissistêmico, sendo fundamental o seguimento do paciente por equipe multiprofissional. Apresentamos um caso com tratamento por meio de excisão cirúrgica, a qual trouxe grande alívio ao paciente devido às dimensões e localização do neurofibroma plexiforme.

Syndrome in question

Abstract Neurofibromatosis is extremely variable in its presentation. Segmental neurofibromatosis (SNF), which corresponds to NF-type 5 in the Riccardi classification, is a rare disorder. It may go unrecognized if few lesions are observed. We present a case of segmental neurofibromatosis in a 28 year-old patient who presented with multiple papules and nodules distributed in dermatomal fashion on the trunk. The histopathological examination of the lesions revealed a non-encapsulated, well-circumscribed spindle cell neoplasm, which was consistent with neurofibromas.

Extracranial neurogenic tumors of the head and neck, / Tumores neurogênicos extracranianos na cabeça e pescoço

ABSTRACT INTRODUCTION: Peripheric nerve tumors typically derive from Schwann cells of the peripheral nerve sheet. Since these tumors are uncommon, they should be considered in preoperative differential diagnosis. OBJECTIVE: To report the experience of a tertiary care department. METHODS: Forty-two patients with head and neck peripheral neurogenic tumors were retrospectively analyzed and evaluated from 1977 to 2013. The preoperative diagnosis was confirmed by biopsy or imaging study. RESULTS: The mean age was 41.7 and 15 patients (36%) were male. The mean size was 5.5 cm and 26 (61%) were located laterally in the neck. Most tumors (39.9%) presented as an asymptomatic neck mass. Most (39.9%) were resected through a neck approach. Cranial nerves were the commonest site of origin. CONCLUSIONS: Extracranial neurogenic tumors presented with a mean size of 5.5 cm, were located laterally in the neck, normally had their origin from cranial nerves, and their resection approach is cervical.

Resumo INTRODUÇÃO: Tumores dos nervos periféricos tipicamente derivam das células de Schwann da bainha dos nervos periféricos. Por serem incomuns, devem ser lembrados no diagnóstico diferencial pré-operatório. OBJETIVO: Relatar a experiência de serviço de referencia terciária. MÉTODO: De 1977 a 2013, 42 pacientes com tumores neurogênicos periféricos da cabeça e pescoço foram operados e analisados retrospectivamente. A confirmação diagnóstica pré-operatória deu-se por biópsia ou método de imagem. RESULTADOS: A média da idade foi de 41,7 anos, sendo 15 indivíduos (36%) do gênero masculino. O tamanho médio foi de 5,5 cm e 26 (61%) localizavam-se na face lateral do pescoço. A maior parte (39,9%) apresentou-se como tumor palpável assintomático. A maioria (39,9%) foi ressecadapor acesso cervical. A maioria originou-se de nervos cranianos. CONCLUSÕES: Tumores neurogênicos extracranianos apresentam-se com tamanho médio de 5,5 cm, na face lateral do pescoço, costumam originar-se de nervos cranianos e ser ressecados por via cervical.