Neurofibromatosis segmentaria, a propósito de un caso / Segmental neurofibromatosis, case report

Resumen Introducción: la neurofibromatosis es un desorden genético, que afecta el crecimiento de tejidos neurales, con una incidencia de 1 en 4 000 personas, con impacto en la esperanza de vida por su asociación con neoplasias y enfermedad vascular. La neurofibromatosis segmentaria es una variante de la neurofibromatosis tipo 1, con una incidencia aproximada de 1 en 20 000 a 25,000 personas, se caracteriza por lesiones cutáneas que afectan un segmento corporal sin cruzar la línea media. Generalmente no tienen historia familiar ni compromiso sistémico. Caso clínico: paciente de sexo femenino de 63 años con dermatosis que afecta el tronco posterior de manera unilateral a nivel de los dermatomas T10-T11, caracterizada por múltiples neoformaciones exofíticas milimétricas en forma de domo, de consistencia blanda y depresibles a la palpación. El estudio histopatológico de una de ellas confirmó el diagnóstico de neurofibroma. La paciente no presentaba afectación neurológica ni ocular, además, sin afección en familiares, por lo que se establece diagnóstico de neurofibromatosis segmentaria. Conclusiones: la neurofibromatosis segmentaria es una patología poco frecuente, Aunque posiblemente sea subdiagnosticada por su carácter asintomático, lo que ocasiona una aparente baja incidencia. Los pacientes que la padecen pueden presentar penetrancia sistémica variable y un riesgo similar de neoplasias al descrito en pacientes con neurofibromatosis tipo 1. Pese al carácter benigno reportado en la literatura sugerimos un abordaje multidisciplinario de los pacientes.

Abstract Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease. segmental neurofibromatosis is a subtype of neurofibromatosis type 1, with an approximate incidence of 1 in 20 000 to 25 000 people, it is characterized by skin lesions that affects a body segment without crossing midline, they generally have no family history or systemic involvement. Clinical case: a 63-year-old female patient with dermatosis affecting the posterior trunk unilaterally at the level of dermatomes t10-t11, characterized by multiple exophytic, dome-shaped, millimeter sized neoformations, soft in consistency and depressible on palpation. the histopatologic study of one of them confirmed the diagnosis of neurofibroma. the patient did not present neurological or ocular involvement, without affection in relatives. diagnosis of segmental neurofibromatosis was made. Conclusions: segmental neurofibromatosis is a rare pathology, although it is possibly underdiagnosed due its asymptomatic nature, which causes an apparent low incidence. patients may present variable systemic penetrance and a similar risk of neoplasm compared to patients with neurofibromatosis type 1. despite the benign nature reported in the literature, we suggest a multidisciplinary approach to patients.

Efficiency and safety of traditional growing rod technique in the treatment of early onset dystrophic scoliosis secondary to type 1 neurofibromatosis with intraspinal rib head in children / 中华骨科杂志

Objective:To investigate the efficiency and safety of traditional growing rod in the treatment of early onset dystrophic scoliosis secondary to type 1 neurofibromatosis (NF1-DS) with intraspinal rib head in children.Methods:From September 2006 to May 2020, this study recruited 20 children with intraspinal rib head with early onset NF1-DS who had received traditional growing rods. There were 13 boys and 7 girls and the age of the initial operation was 7.0±1.6 years (range, 4.1-9.8 years). There were 7 cases of simple left chest bend, 9 cases of simple right chest bend, and 4 cases of double chest bend; 13 patients had varying degrees of kyphosis deformity. Two children had neurological symptoms before surgery, American Spinal Injury Association Impairment Scale (AIS) were grade D. The proportion of the intraspinal rib head (IRP), the Cobb angle of the main chest bend, apical vertebra rotation (AVR), apical vertebral translation (AVT), trunk shift (TS) and sagittal TK, lumbar lordosis (LL), sagittal balance and T 1-S 1 height were measured before and after first time internal fixation and at last follow-up, and the complications were also evaluated. Results:All 20 patients were followed up and the average follow-up time was 41.6±23.8 months (range, 24-99 months). A total of 85 operations was conducted including 63 protrude operations. After operation, the IRP was significantly lower than that before operation (preoperative 33.1%±17.5% vs. postoperative 22.2%±11.3%, P<0.001) and no significant correction loss was found at last follow-up 23.7%±12.4% ( P>0.05). The mean Cobb angle decreased from 75.9°±26.7° preoperatively to 45.0°±18.5° postoperatively ( P<0.001) and there was still significant improvement at the last follow-up (41.0°±17.2°) compared with postoperatively ( P<0.05). The AVR was significantly reduced after surgery compared with preoperatively (33.0°±10.1° vs. 39.3°±13.3°, P<0.001), and the last follow-up (40.1°±11.4°) was significantly improved compared with postoperative ( P=0.005). The T 1-S 1 height increased from 259.8±70.7 mm preoperatively to 296.9±78.4 mm postoperatively ( P=0.001), and at the last follow-up 296.9±78.4 mm was still significantly higher than after operation ( P<0.001), with an average annual increase of 12.4±3.2 mm. Significant correction of AVT, TK, LL and sagittal balance were noted after initial surgery ( P<0.05), and no significant correction loss was found at last follow-up ( P>0.05). There were 10 complications in 7 cases. There were 5 complications of pedicle screw loosening, 1 complication of bolt droping, 2 complications of broken rod, 1 complication of distal junctional kyphosis and 1 complication of adding-on phenomenon. 2 cases with nerve injury were recover after operation (AIS grading E). None of the children had new neurological complications during growth rod insertion and multiple stretching during follow-up. Conclusion:For children with early onset NF1-DS with intraspinal rib head, if the preoperative AIS grade is D or E, traditional growing rod technique is relatively safe and effective and can make the intraspinal rib head remove from the spinal canal partly.

Neurofibromatosis type 1: evaluation by chest computed tomography / Neurofibromatose tipo 1: estudo por tomografia computadorizada do tórax

Abstract Objective: The aim of this study was to evaluate chest computed tomography (CT) findings in patients diagnosed with neurofibromatosis type 1 (NF1). Material and Methods: This was a retrospective study in which we reviewed the chest CT scans of 14 patients diagnosed with NF1 and neurofibromatosis-associated diffuse lung disease (NF-DLD). The sample comprised eight women and six men. The median age was 55 years (range, 11-75 years). The diagnosis of NF1 was made on the basis of the diagnostic criteria established by the U.S. National Institutes of Health. The images were analyzed by two chest radiologists, who reached decisions by consensus. Results: The predominant CT finding of NF-DLD was multiple cysts, which were observed in 13 patients (92.9%), followed by emphysema, in eight (57.1%) and subpleural bullae, in six (42.9%). Other findings included subcutaneous neurofibromas, in 12 patients (85.7%), ground-glass opacities, in one (7.1%), and tracheobronchial neurofibromas, in one (7.1%). The pulmonary abnormalities were bilateral in 12 cases (85.7%). The abnormalities were predominantly in the upper lung fields in eight cases (57.1%), and their distribution was random in 11 (78.6%). Conclusion: Pulmonary cysts, emphysema, and subpleural bullae appear to be the chest CT findings that are most characteristic of NF-DLD.

Resumo Objetivo: O objetivo deste estudo foi avaliar os achados pulmonares na tomografia computadorizada do tórax de pacientes diagnosticados com neurofibromatose tipo 1 (NF1). Materiais e Métodos Foram revisados, retrospectivamente, os achados tomográficos de 14 pacientes com doença pulmonar difusa associada à NF1 (NF-DPD). A amostra incluiu oito mulheres e seis homens, com idade entre 11 e 75 anos (mediana de idade de 55 anos). O diagnóstico foi estabelecido com base em critérios diagnósticos predeterminados pelo National Institutes of Health dos Estados Unidos. As imagens foram analisadas de forma independente por dois radiologistas, que chegaram a um consenso. Resultados: Os achados tomográficos predominantes foram múltiplos cistos em 13 pacientes (92,9%), enfisema em oito (57,1%) e bolhas subpleurais em seis (42,9%). Achados associados incluíram neurofibromas cutâneos e subcutâneos em 12 pacientes (85,7%), opacidades em vidro fosco em um (7,1%) e neurofibromas traqueobrônquicos em um (7,1%). As anormalidades pulmonares foram bilaterais em 12 casos (85,7%). Houve predomínio nos terços superiores em oito (57,1%) pacientes e se distribuíram randomicamente pelos pulmões em 11 (78,6%). Conclusão: Os achados tomográficos pulmonares mais frequentes na NF-DPD foram os cistos pulmonares, o enfisema e as bolhas subpleurais.

Dermoscopy of the iris: identification of Lisch nodules and contribution to the diagnosis of neurofibromatosis type 1

Abstract Neurofibromatosis is a common genodermatosis, whose diagnosis often involves the participation of a dermatologist. A case of a 38-year-old female patient with four café-au-lait macules and eleven neurofibromas on clinical examination is presented. Dermoscopy allowed the identification of Lisch nodules in the iris, bilaterally. The combination of these findings allowed the diagnosis of neurofibromatosis type 1, according to NIH criteria. Lisch nodules are melanocytic hamartomas of the iris, which must be evaluated through a visual augmentation method, usually employed in ophthalmology. Alternatively, dermoscopy can be used and contribute to the early diagnosis of neurofibromatosis type 1.

Neurofibromatosis 1 asociada a tumor maligno de la vaina del nervio periférico: Un enfoque radiológico / Neurofibromatosis 1 associated to malignant peripheral nerve sheath tumor: A radiological approach

Introducción: La neurofibromatosis (NF) se caracteriza por ser una anormalidad ectodérmica con formación de múltiples neurofibromas en todo el cuerpo. La forma más frecuente es la NF1, que se presenta con manifestaciones variables. El tumor maligno de la vaina del nervio periférico (TMVNP) es una de las formaciones tumorales que se puede ver en el contexto de esta patología. El papel de la radiología es el de caracterizar la lesión y su invasión, así como el de valorar la presencia de otras lesiones tumorales. Caso clínico: Paciente adulto, masculino, portador de Neurofibromatosis tipo I y hemorroides, acudió por hemorragia digestiva por lo que se realizó una endoscopía donde se encontró una lesión estenosante prepilórica. Se solicitó un barrido tomográfico donde se identificaron lesiones de aspecto benigno en hígado, ambas suprarrenales y una lesión tumoral de aspecto maligno en la parrilla costal izquierda. Discusión: Un avezado conocimiento de la patología con los hallazgos radiológicos que se suelen observar en estos pacientes, son de suma importancia para que el médico radiólogo pueda conocer la localización de las lesiones, tanto las clásicas como las no habituales, y orientar entre una lesión de carácter benigno con otras de carácter maligno.

Introduction: Introduction: Neurofibromatosis (NF) is characterized by ectodermal abnormality with the presence of multiple neurofibromas throughout the body. The most common form is NF1, which occurs with variable manifestations. Malignant neurilemmoma or peripheral nerve sheath malignant tumor (PNSMT) is one of the tumor formations that can be seen in the context of this pathology. The role of radiology is to characterize the injury and its invasion, as well as to assess the presence of other tumor lesions. Case report: Adult male patient, carrier of Neurofibromatosis type I and hemorrhoids, presented with digestive hemorrhage, so an endoscopy was performed where a prepyloric stenosing lesion was found. A tomographic scan was requested where benign-looking lesions were identified in the liver, both adrenal glands, also a malignant-looking tumor lesion on the left rib cage. Conclusion: An experienced knowledge of the pathology with the radiological findings that are usually observed in these patients are of utmost importance so that the radiologist can know the location of the lesions, both classic and unusual, and orient between a character injury benign with others of malignant character.

Tumor glômico múltiplo em paciente com neurofibromatose tipo 1: relato de caso e revisão de literatura / Multiple glomus tumor in a patient with neurofibromatosis type 1: a case report and literature review

Neurofibromatose tipo I (NF1) é uma doença autossômica dominante, com incidência de 1/2.500-3.000 nascimentos e prevalência de aproximadamente 1/4.000-5.000 indivíduos; é causada por mutações genéticas no gene NF1, que afetam tecidos neurais e cutâneos. Tumor glômico é uma neoplasia benigna originada do glomo, uma estrutura neuromioatrial da pele presente nas pontas dos dedos e envolvida na termorregulação. São considerados historicamente tumores isolados esporádicos, porém existem estudos que comprovam sua relação com a neurofibromatose tipo I. Pacientes com neurofibromatose tipo 1 devem ser investigados. O relato de caso fornece suporte adicional à noção de que NF1 tem um risco associado a múltiplos tumores glômicos.

Neurofibromatosis type I (NF1) is an autosomal dominant disease, with an incidence of 1/2,500-3,000 births and a prevalence of approximately 1/4,000-5,000 individuals. Genetic mutations in the NF1 gene cause it, affecting neural and skin tissues. Glomus tumor is a benign neoplasm originating from the glomus, a neuromyoatrial structure of the skin present at the fingertips and involved in thermoregulation. The literature historically considered these tumors isolated and sporadic, but some studies have proved a relationship with neurofibromatosis type I. Thus, patients with neurofibromatosis type 1 should be investigated. The case report provides additional support for the notion that NF1 has a risk associated with multiple glomus tumors.

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.

Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review

Kaposiform hemangioendothelioma (KHE) is a very rare, locally aggressive vascular neoplasm. It occurs mostly in children and is rarely observed in adults. It typically originates on the skin, later affecting the deep soft tissue of the extremities, head or neck, and retroperitoneum by infiltrative growth. It is locally aggressive, does not regress spontaneously, and tends to metastasize locally as well as to the regional lymph nodes. In this article, we report a case of adult-onset KHE with neurofibromatosis type 1. The patient presented to our department with a 2-month history of a painful ulceration in her left popliteal area. Since KHE had not previously been reported in patients with neurofibromatosis, the diagnosis was difficult due to the similarity of the skin manifestation to neurofibromatosis-associated lesions. We share our experience of diagnosing and treating this rare case of adult-onset KHE.

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.

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.

Outcomes of Treatment for Malignant Peripheral Nerve Sheath Tumors: Different Clinical Features Associated with Neurofibromatosis Type 1 / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: Malignant peripheral nerve sheath tumors (MPNSTs) are a rare subtype of sarcoma that occur spontaneously or in association with neurofibromatosis type 1 (NF-1). This study aimed to clinically differentiate these types of MPNSTs. MATERIALS AND METHODS: The study reviewed 95 patients diagnosed with and treated for MPNST at Yonsei University Health System, Seoul, Korea over a 27-year period. The clinical characteristics, prognostic factors, and treatment outcomes of sporadic MPNST (sMPNST) and NF-1 associated MPNST (NF-MPNST) cases were compared. RESULTS: Patients with NF-MPNST had a significantly lower median age (32 years vs. 45 years for sMPNST, p=0.012), significantly larger median tumor size (8.2 cm vs. 5.0 cm for sMPNST, p < 0.001), and significantly larger numbers of imaging studies and surgeries (p=0.004 and p < 0.001, respectively). The 10-year overall survival (OS) rate of the patients with MPNST was 52±6%. Among the patients with localized MPNST, patients with NF-MPNST had a significantly lower 10-year OS rate (45±11% vs. 60±8% for sMPNST, p=0.046). Univariate analysis revealed the resection margin, pathology grade, and metastasis to be significant factors affecting the OS (p=0.001, p=0.020, and p < 0.001, respectively). Multivariate analysis of the patients with localized MPNST identified R2 resection and G1 as significant prognostic factors for OS. CONCLUSION: NF-MPNST has different clinical features from sMPNST and requires more careful management. Further study will be needed to develop specific management plans for NF-MPNST.

Primary hepatic malignant peripheral nerve sheath tumor successfully treated with combination therapy: a case report and literature review

Primary malignant peripheral nerve sheath tumor (MPNST) in a young female patient, not associated with neurofibromatosis type-I is extremely rare in the liver. A 33-year-old female was admitted with a right flank pain for a weak. The CT scan showed 12.5-cm-sized mass located at the right hepatic lobe. At laparotomy, about 20.0-cm-sized mass was on the right hepatic lobe with attachment to right diaphragmatic pleura. Right hepatic lobe and adherent part of diaphragmatic pleura were resected. On histology and immunohistochemistry, it was diagnosed MPNST. Adjuvant radiotherapy for the right diaphragmatic pleura and adjuvant chemotherapy with adriamycin, ifosfamide and cisplatin were sequentially performed. The prognosis of MPNST is generally poor and it is associated with a highly aggressive course of recurrence, metastases, and death. Our case is probably a first report about combination therapy.

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.

Neurofibromatosis: part 2 – clinical management / Neurofibromatoses: parte 2 – manejo clínico

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1.

Implicaciones anestésicas en la enfermedad de Von Recklinghausen / Anaesthetic implications in Von Recklinghausen disease: A case report

Von Recklinghausen disease or neurofibromatosis Type I (NF1) is an autosomal dominant disease with a wide spectrum of clinical manifestations. Neurofibromas are the characteristic lesions. This disorder is associated with important anaesthetic considerations, mainly when neurofibromas occur in the oropharynx and larynx, leading to difficult laryngoscopy and tracheal intubation. We describe the anaesthetic management of a patient with NF1 under general anaesthesia for facial neurofibroma excision. We performed a brief review of the literature with the aim of optimizing the anaesthetic management and reducing the number of complications associated with the systemic manifestations of this syndrome.

La enfermedad de Von Recklinghausen (EVR) o neurofibromatosis tipo I (NF1) es una enfermedad con herencia autosómica dominante con un amplio espectro de manifestaciones clínicas. Los neurofibromas son las lesiones características. Este trastorno se asocia con importantes consideraciones anestésicas, principalmente cuando los neurofibromas aparecen en la orofaringe y laringe, produciendo dificultades en la laringoscopia y en la intubación endotraqueal. Describimos el manejo anestésico de un paciente con NF1 bajo anestesia general para extirpación de neurofibromas faciales. Hemos realizado un breve repaso de la literatura existente para optimizar el manejo anestésico y reducir el número de complicaciones asociadas con las manifestaciones sistémicas de este síndrome.

Life-threatening Duodenal Ulcer Bleeding from a Ruptured Gastroduodenal Artery Aneurysm in a Patient with Neurofibromatosis Type 1 / 대한소화기학회지

Vasculopathy is rarely reported in neurofibromatosis type 1, but when it occurs it primarily involves the aorta and its main branches. Among vasculopathies, aneurysmal dilatation is the most common form. Although several case reports concerning aneurysms or pseudoaneurysms of visceral arteries in neurofibromatosis type 1 patients have been reported, there are no reports describing gastroduodenal artery aneurysms associated with neurofibromatosis type 1. We experienced a case of life-threatening duodenal ulcer bleeding from a ruptured gastroduodenal artery aneurysm associated with neurofibromatosis type 1. We treated our patient by transarterial embolization after initial endoscopic hemostasis. To our knowledge, this is the first reported case of its type. High levels of suspicion and prompt diagnosis are required to select appropriate treatment options for patients with neurofibromatosis type 1 experiencing upper gastrointestinal bleeding. Embolization of the involved arteries should be considered an essential treatment over endoscopic hemostasis alone to achieve complete hemostasis and to prevent rebleeding.

Neurofibromatoses: part 1 diagnosis and differential diagnosis / Das neurofibromatoses: parte 1 diagnostico e diagnostico diferencial

Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management.

Neurofibromatoses (NF) constituem um grupo de doenças genéticas com predisposição ao crescimento de múltiplos tumores: tipo 1 (NF1), tipo 2 (NF2) e schwannomatose (SCH). Estas doenças têm em comum a origem neural dos tumores e os sinais cutâneos. Afetam cerca de 80 mil brasileiros. O maior conhecimento científico sobre as NF tem permitido melhor manejo clínico, redução da morbidade das complicações e melhor qualidade de vida. Na maioria dos casos, os especialistas em neurologia, dermatologia, genética clínica, oncologia e medicina interna estão capacitados a realizar o diagnóstico diferencial e identificar suas principais complicações. Devido à sua variabilidade fenotípica, curso progressivo, multiplicidade de órgãos acometidos e evolução imprevisível, as NF frequentemente necessitam de especialistas em NF para o acompanhamento. A Parte 1 deste texto oferece orientações para o diagnóstico de cada tipo de NF e discute os diagnósticos diferenciais com outras doenças. A Parte 2 oferecerá orientações em relação ao manejo clínico das NF.

Leptomeningeal Carcinomatosis of Gastric Cancer Misdiagnosed as Vestibular Schwannoma

Gastric cancer is one of the most common causes of cancer-related death in Asian countries, including Korea. We experienced a case of leptomeningeal carcinomatosis (LC) from gastric cancer that was originally misdiagnosed as vestibular schwannoma based on the similar radiological characteristics. To our knowledge, LC from gastric cancer is very rare. In conclusion, our experience with this case suggests that clinicians should consider the possibility of delayed leptomeningeal metastasis when treating patients with gastric cancer.

Neurofibromatosis type I and anti-phospholipid antibody syndrome: Report of one case / Neurofibromatosis tipo I y síndrome antifosfolípidos: Informe de un caso

Neurofibromatosis type I (NF1) has been only rarely reported in association with anti-phospholipid syndrome (APS). We report a 38 year-old female with NF1, who developed a cervix carcinoma at the age of 30 years and was successfully treated with conization, without requiring chemotherapy or radiation. She experienced two miscarriages prior to the diagnosis of the carcinoma. When she was 38 years old, an APS was diagnosed based on repeatedly positive lupus anticoagulant tests. The patient continued to smoke and using oral contraceptives. At 38 years of age she had a myocardial infarction, despite the use of oral anticoagulation. She required coronary stenting. Aspirin and clopidrogel were indicated thereafter.

Es inusual la asociación entre neurofibromatosis tipo I (NF1) y síndrome antifosfolípidos (APS). Presentamos una paciente mujer de 38 años con un NF1 que desarrolló un cáncer cervicouterino a los 30 años y que fue tratada exitosamente con una conización, sin requerir quimioterapia o radiación. La paciente tuvo dos abortos espontáneos antes del diagnóstico del carcinoma. A los 38 años, se le diagnosticó un APS, basado en pruebas de anticoagulante lúpico que resultaron positivas en repetidas oportunidades. La paciente continuó fumando y usando contraceptivos orales y, a pesar de estar con anticoagulantes orales, tuvo un infarto agudo de miocardio a los 38 años. Se colocó un stent coronario y se indicó aspirina y clopidogrel.