Neurofibromatosis laríngea pediátrica: reporte de localización atípica / Pediatric neurofibromatosis of the larynx: report of atypical location

Los neurofibromas laríngeos (NFL) son tumores benignos poco frecuentes de localización principalmente supraglótica. Se manifiestan con síntomas obstructivos de la vía aérea. El tratamiento es la resección completa del tumor mediante abordaje endoscópico; se reserva la cirugía abierta para tumores de gran extensión. Se presenta el caso de un paciente pediátrico con localización atípica de NFL asociado a neurofibromatosis tipo 1 (NF1). Se realizó resección endoscópica del tumor y la anatomía patológica informó neurofibroma plexiforme. Es importante sospechar de esta patología en todo niño con estridor inspiratorio atípico progresivo. Se sugiere seguimiento a largo plazo por la alta probabilidad de recidiva.

Laryngeal neurofibromas (LNFs) are rare benign tumors mainly located in the supraglottis. LNFs occur with airway obstruction symptoms. The treatment is complete resection via an endoscopic technique; the open approach is reserved for large tumors. Here we describe the case of a pediatric patient with LNF of atypical location associated with neurofibromatosis type 1 (NF-1). The tumor was resected with an endoscopic technique, and the pathological study reported a plexiform neurofibroma. It is important to suspect this condition in any child with atypical, progressive inspiratory stridor. Long-term follow-up is recommended due to the high rate of recurrence

Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis Type I: Diagnosis after Intestinal Occlusion Secondary to Adhesions after an Episode of Pancreatitis / Tumor Estromal Gastrointestinal em Paciente com Neurofibromatose Tipo I: Diagnóstico após Oclusão Intestinal Secundária a Aderências após Episódio de Pancreatite / Tumor del Estroma Gastrointestinal en Paciente con Neurofibromatosis Tipo I: Diagnóstico tras Oclusión Intestinal Secundaria a Adherencias tras Episodio de Pancreatitis

Introduction: Gastrointestinal stromal tumors (GIST), although relatively rare, account for 80% of mesenchymal tumors of the digestive tract. They manifest in any part of the alimentary tract and are derived from Cajal cells. They may occur sporadically or be associated with familial syndromes such as neurofibromatosis type I. The clinical picture is variable, and they are often diagnosed incidentally. The diagnosis requires imaging tests associated with histopathological and immunohistochemical analysis. The best strategy for treatment is surgical resection and cases should be analyzed individually to verify additional advantages with the association of systemic therapy. This study aims to present an unusual case of GIST associated with neurofibromatosis type I in a patient with incidental diagnosis after semi-intestinal occlusion secondary to an episode of pancreatitis, in addition to performing a literature review on the subject. Case report: A 49-year-old woman with a history of severe pancreatitis presented with intestinal obstruction approximately 8 months after this episode. Abdominal computed tomography revealed a heterogeneous formation in the mesogastric region, measuring 6.6 x 5.1 x 5.3 cm. She underwent surgical resection and histopathological and immunohistochemical studies confirmed the diagnosis of GIST. Six months after diagnosis, the patient is in good general condition and is on systemic therapy. Conclusion: GIST are rare tumors, but their diagnosis should come to mind in patients with neurofibromatosis type 1 with abdominal masses

Introdução: Os tumores do estroma gastrointestinal (GIST), embora relativamente raros, correspondem a 80% dos tumores mesenquimais do trato digestivo. Manifestam-se em qualquer parte do trato alimentar e são derivados das células de Cajal. Podem ocorrer de forma esporádica ou associados a síndromes familiares como a neurofibromatose tipo I. O quadro clínico é variável, sendo frequentemente diagnosticados de forma incidental. O diagnóstico requer realização de exames de imagem associados à análise histopatológica e imuno-histoquímica. A melhor estratégia para o tratamento é a ressecção cirúrgica e os casos devem ser analisados individualmente para verificar vantagens adicionais com a associação da terapia sistêmica. O objetivo deste trabalho é apresentar um caso incomum de GIST associado à neurofibromatose tipo I em uma paciente com diagnóstico incidental após semioclusão intestinal secundárias a episódio de pancreatite, além de realizar revisão de literatura sobre o assunto. Relato do caso: Mulher, 49 anos de idade,com passado de pancreatite grave,apresentou quadro de oclusão intestinal cerca de oito meses após esse episódio. A tomografia computadorizada de abdome revelou formação heterogênea em região mesogástrica, medindo 6,6 x 5,1 x 5,3 cm. Foi submetida à ressecção cirúrgica, e os estudos histopatológico e imuno-histoquímico corroboraram o diagnóstico de GIST. Seis meses após o diagnóstico, a paciente encontra-se em bom estado geral e em uso de terapia sistêmica. Conclusão: Os GIST são tumores raros, porémseu diagnóstico deve ser lembrado em pacientes com neurofibromatose tipo 1 apresentando massas abdominais

Introducción: Los tumores del estroma gastrointestinal (GIST), aunque relativamente raros, representan el 80% de los tumores mesenquimales del tubo digestivo. Se manifiestan en cualquier parte del tubo digestivo y se derivan de las células de Cajal. Pueden presentarse de forma esporádica o asociarse a síndromes familiares como la neurofibromatosis tipo I. El cuadro clínico es variable y con frecuencia su diagnóstico es incidental. El diagnóstico requiere pruebas de imagen asociadas al análisis histopatológico e inmunohistoquímico. La mejor estrategia de tratamiento es la resección quirúrgica y los casos deben analizarse individualmente para verificar ventajas adicionales con la asociación de terapia sistémica. El objetivo de este trabajo es presentar un caso inusual de GIST asociado a neurofibromatosis tipo I en un paciente con diagnóstico incidental tras una semioclusión intestinal secundaria a un episodio de pancreatitis, además de revisar la literatura sobre el tema. Informe del caso: Mujer de 49 años, con antecedente de pancreatitis severa, presentó oclusión intestinal aproximadamente ocho meses después de este episodio. La tomografía computarizada de abdomen reveló una formación heterogénea en la región mesogástrica, que medía 6,6 x 5,1 x 5,3 cm. Se le realizó resección quirúrgica y los estudios histopatológicos e inmunohistoquímicos corroboraron el diagnóstico de GIST. Seis meses después del diagnóstico, la paciente se encuentra en buen estado general y en tratamiento sistémico. Conclusión: Los GIST son tumores raros, pero su diagnóstico debe considerarse en pacientes con neurofibromatosis tipo 1 que presentan masas abdominales

Neurofibromatosis laríngea: a propósito de un caso / Laryngeal neurofibromatosis: a case report

Resumen El neurofibroma laríngeo es poco frecuente, representa menos del 0,1% de las neoplasias benignas de la laringe. Puede presentarse aislado, o más comúnmente asociado a neurofibromatosis tipo I. Se presenta el caso de un paciente varón de 40 años, ya diagnosticado de neurofibromatosis tipo I, que presenta masa supraglótica submucosa asintomática, diagnosticada como hallazgo casual en una intubación por una cirugía previa programada.

Abstract Laryngeal neurofibroma is rare, representing less than 0.1% of benign tumors of the larynx. It can occur in isolation or more commonly associated with type I neurofibromatosis. The case of a 40-year-old male patient, already diagnosed with type I neurofibromatosis, is presented with an asymptomatic submucosal supraglottic mass, diagnosed as a chance finding in intubation due to a previous scheduled surgery.

Atención odontológica humanizada a un paciente con neurofibromatosis tipo 1 atendido en una clínica de odontología de especialización infantil: reporte de Caso / Humanized dental care for a patient with type 1 neurofibromatosis attended in a specialized children's dentistry clinic: case report / Atendimento odontológico humanizado a paciente com neurofibromatose tipo 1 atendido em ambulatório especializado de odontologia infantil: relato de caso

Este trabajo tiene como objetivo relatar el abordaje individualizado, inclusivo y humanizado de un niño de 4 años y tres meses, con diagnóstico de neurofibromatosis tipo 1, atendido en la Carrera de Especialización en Odontopediatría de la Escuela de Graduados, Facultad de Odontología, Universidad de la Repú blica, Montevideo, Uruguay. En el examen clínico se pudo observar cicatrices derivadas del tratamiento quirúrgico del neurofibroma plexiforme en la zona cervical y la presencia de hipotonicidad muscular oral. Al examen clínico intraoral, se observaron amplias zonas desdentadas a consecuencia de exodoncias de quince dientes deciduos. Presentaba lesiones activas de caries en los dientes remanentes, acompañado de biopelícula generalizada y sangrado gingival provocado. Se realizó un abordaje integral del paciente y la terapia rehabilitadora mediante el uso de prótesis parcial removible superior e inferior. Concluímos que el tratamiento odontológico educativo, preventivo, restaurador y rehabilitador fue satisfactorio y la empatía, como proceso dinámico, involucró mecanismos cognitivos, afectivos y conductuales, y fue reconocida por sus efectos positivos en la promoción de la salud bucal del paciente.

Este trabalho tem como objetivo relatar uma abordagem odontológica individualizada, inclusiva e humanizada, enfatizando a importância do tratamento de uma criança de 4 anos e três meses, com diagnóstico de neurofibromatose tipo 1, que foi encaminhada e tratada en la clínica de la Carrera de Especialización en Odontopediatria de la Escuela de Graduados, Facultad de Odontología, Universidad de la República. O exame clínico revelou cicatrizes decorrentes do tratamento cirúrgico do neurofibroma plexiforme que acometia o pescoço da criança e hipotonicidade muscular oral. Ao exame clínico intraoral, quinze dentes decíduos estavam ausentes e cinco com lesões de cárie na primeira infância, além de presença generalizada de biofilme microbiano nas superfícies dentais e sangramento gengival provocado. Foi realizado tratamento odontológico necessário ao paciente, com os devidos cuidados e terapia reabilitadora com prótese parcial removível superior e inferior. Concluímos que o tratamento odontológico educacional, preventivo, restaurador e reabilitador foi satisfatório e a empatia, como processo dinâmico, envolveu mecanismos cognitivos, afetivos e comportamentais e foi reconhecida por seus efeitos positivos na promoção da saúde bucal do paciente.

This paper aims to report an individualized, inclusive, and humanized dental approach, emphasizing the importance of treating a child aged four years and three months with neurofibromatosis type 1. The patient was referred and treated at the Clinic of the Specialization Course in Pediatric Dentistry of the Graduate School, School of Dentistry, Universidad de la República, Montevideo, Uruguay. The clinical examination revealed scars from the surgical treatment of the plexiform neurofibroma and neck and oral muscle hypotonicity. The intraoral clinical examination showed large edentulous areas as 15 deciduous teeth were missing. The patient had active carious lesions, generalized microbial biofilm on the tooth surfaces, and gingival bleeding. A comprehensive treatment was provided, as well as restorative therapy with upper and lower removable partial dentures. We conclude that the dental educational, preventive, restorative, and rehabilitation treatment was satisfactory. Furthermore, empathy, as a dynamic process, involved cognitive, affective, and behavioral mechanisms. It also helped enhance the patient's oral health.

Neurofibromatosis tipo 1. Más allá de las manchas café con leche: ¿es necesario actualizar criterios? / Neurofibromatosis type 1. Beyond to café-au-lait spots: necessary update criteria?

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome. Diagnosis is based on clinical findings that meets the criteria developed by the NIH in 1997, which remain highly sensitive and specific in adults, but not in children, in which the manifestations vary with age. In children under 2 years in the pretumoral stage with a negative family history, it would be useful to have additional clinical diagnostic criteria. Genetic testing is not widely available and although café-au-lait spots remain the cardinal and most frequent clinical sign, they cannot make the diagnosis of NF-1 on their own. (AU)

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.

Deep Vein Thrombosis in the Setting of Neurofibromatosis Type 1: Case Report

Neurofibromatosis type 1 (NF1) is a genetic syndrome which typically presents with neurological manifestations. Some of the patients may also present with vasculopathies, among which arterial aneurysms and stenosis are the most common. Deep vein thrombosis (DVT) has rarely been described, and, to the best of our knowledge, the present is the first report of DVT due to venous compression by a neurofibroma in the setting of NF1. This is the case of a 23-year-old male with NF1 who experienced DVT due to compression of the left posterior tibial veins by a large tumor arising from the tibial nerve. The DVT was acutely treated with enoxaparin and then with rivaroxaban. Two months after the diagnosis, Doppler ultrasonography showed partial recanalization and persistence of the DVT. The patient was then referred to neurosurgery for surgical resection of the tumor. There were no complications during the procedure, and the patient did not present postoperative neurological deficits. The final histopathological diagnosis was of a benign neurofibroma. After one year of follow-up with vascular surgery, the patient presented no more episodes of DVT. In case there is a tumor compressing the deep vessels of the leg and promoting DVT, surgical resection with microsurgical techniques may be curative.

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

Dietary patterns of Brazilian adults with neurofibromatosis type 1 / Patrones dietéticos de adultos brasileños con neurofibromatosis tipo 1

ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease characterized by multisystem involvement such as bone, muscle, endocrine, ophthalmologic, cardiovascular, central and peripheral nervous system, cognitive capacity, voice, and oral motor disorders. Nutritional studies in individuals with NF1 have been performed recently. While a previous study showed an inadequate nutrient intake in patients with NF1, the dietary patterns of this population have not yet been widely studied. This study aimed to characterize dietary patterns in Brazilian adults with NF1. Sixty NF1 individuals (51.7% women), ≥18 years of age underwent nutritional assessment including laboratory analysis, anthropometrics, and eating habits recorded on a food frequency questionnaire. Cluster analysis was used to distinguish between dietary patterns. Hypothesis tests were used to compare data. Two groups with distinct patterns were identified, "Healthy" (46.7%) and "Western" (53.3%). These groups were similar in most of the socioeconomic, anthropometric, demographic and laboratory parameters evaluated. However, the upper-arm total area and upper-arm muscle area (UAMA) were lower in the Western group than those in the Healthy group [59.8 (25.7) cm2 versus 65.6 (28.3) cm2, P=0.049; 35.6±12.4 cm2 versus 43.8±15.0 cm2, P=0.024, respectively]. In this study, most individuals with NF1 had a Western dietary pattern and this group showed a lower UAMA, which may indicate a potential contribution, even in part, of diet in the muscle phenotype in this population. This association between diet and muscle in NF1 individuals requires investigation in further studies.

RESUMEN La neurofibromatosis tipo 1 (NF1) es una enfermedad genética autosómica dominante caracterizada por la afectación multisistémica, alterando los sistemas óseo, muscular, endocrino, oftálmico, cardiovascular, nervioso central y periférico así como las capacidades cognitivas. Un estudio previo señaló una ingesta inadecuada de nutrientes en pacientes con NF1, pero los patrones dietéticos de esta población aún no han sido estudiados ampliamente. El objetivo de este est udio es caracterizar los patrones dietéticos en brasileños con NF1. Sesenta individuos con NF1 (51,7% mujeres) ≥18 años se sometieron a una evaluación nutricional que incluyeron análisis de laboratorio, antropometría y hábitos alimentarios registrados en un cuestionario de frecuencia alimentaria. El análisis de conglomerados se utilizó para distinguir los patrones dietéticos; las pruebas de hipótesis para comparar datos. Se identificaron dos grupos con patrones distintos, denominados Saludables (46,7%) y Occidentales (53,3%). Estos grupos fueron similares en la mayoría de los parámetros socioeconómicos, antropométricos, demográficos y de laboratorio evaluados. Sin embargo, las áreas total braquial (ATB) y muscular braquial (AMB) fueron menores en el grupo occidental que en el grupo sano [59,8 (25,7) cm2 y 65,6 (28,3) cm2, P= 0,049; 35,6 ± 12,4 cm2 y 43,8 ± 15,0 cm2, P= 0,024, respectivamente]. En este estudio, la mayoría de las personas con NF1 habían consumido un patrón dietético occidental y este grupo presentó un AMB menor, lo que puede indicar una contribución potencial, incluso en parte, de la dieta en el fenotipo muscular en esta población. Esta asociación entre dieta y músculo en personas con NF1 requiere investigaciones en estudios adicionales.

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.

Caso Clínico: Neurofibromatosis Tipo 1, resolución quirúrgica / Case Report: Neurofibromatos Type 1, Surgical Management

INTRODUCCIÓN: La neurofibromatosis tipo 1(NF1) descrita por primera vez por von Recklinghausen en 1884, es una enfermedad de transmisión genética autosómica dominante, causada por un espectro de mutaciones en el gen NF-1, de evolución impredecible, que afecta múltiples órganos y sistemas, como la piel y el sistema nervioso, afectando también el desarrollo infantil y al estado neurocognitivo. Representa para el médico la toma de decisiones de manejo a menudo complejas, que requieren un enfoque multidisciplinario. CASO CLÍNICO: Paciente femenino de 9 años de edad, con antecedente de neurofibromatosis tipo 1. Presenta masa en región cervical anterior, que ocupa además el hemitórax izquierdo, comprimiendo el mediastino anterior, la tráquea del lado izquierdo, el corazón, el pulmón izquierdo; la masa produce sintomatología: disnea, disfagia y dolor, por lo que se programa intervención quirúrgica para exéresis del tumor. Se realizó cervico-esternotomía- toracotomía izquierda, se extirpó masa de 12 x 7 cm, ubicada a nivel de cayado aórtico, íntimamente adherida a la columna vertebral cervico-torácica. EVOLUCIÓN: Durante el acto quirúrgico la paciente tuvo un sangrado cuantioso, proveniente de arteria colateral de carótida común izquierda, por lo que se decidió empaquetar para resolución posterior, 24 horas después se desempaquetó, logrando control del sangrado tras el procedimiento. Los resultados de anatomía patología establecieron que la masa fue un neurofibroma. El seguimiento posterior determinó mejoría de la sintomatología, sin complicaciones quirúrgicas tardías. CONCLUSIÓN: La Neurofibromatosis es una patología congénita, poco frecuente y de complejo manejo. Aunque no existe tratamiento definitivo para la neurofibromatosis tipo 1, se puede realizar un manejo integral para mejorar la calidad de vida del paciente. Los tumores pueden extirparse mediante cirugía, aunque a menudo vuelven a crecer.(au)

BACKGROUND: Neurofibromatosis type 1, first described by von Recklinghausen in 1884, is an autosomal dominant genetically transmitted disease, caused by a spectrum of mutations in the NF-1 gen, with unpredictable evolution, that affects multiple organs and systems, such as the skin and the nervous system, also affecting child development and neurocognitive functions. It often requires complex management decisions from the physician that involve a multidisciplinary approach. CASE REPORTS: 9 year old female patient with a history of type 1 neurofibromatosis. She presented with a mass located in the anterior cervical region, occupying also the left hemithorax, compressing the anterior mediastinum, the trachea from its left side, the heart, and the left lung; the mass produced symptoms: dyspnea, dysphagia and pain, so surgical excision of the mass was scheduled. A left cervical-sternotomy-thoracotomy was performed, a 12 x 7cm mass, located at aortic arch level, closely adhered to the cervical-thoracic spine, was excised. EVOLUTION: During the surgical procedure, the patient had profuse bleeding, coming form the left common carotid colateral artery, so abdominal packing was performed, for later resolution. 24 hours later, bleeding control was achieved after the surgical re-intervention. The pathology lab results established that the mass was in fact a neurofibroma. Subsequent follow-up determined symptoms improvement, without late surgical complications. CONCLUSIONS: Neurofibromatosis is a congenital infrequent, disease, with a complex treatment. Although there is no definitive treatment for type 1 neurofibromatosis, comprehensive management can be achieved to improve the patient's quality of life. Tumors can be surgically removed, although they often grow back.(au)

Neurofibromatosis segmentaria / Segmental neurofibromatosis

RESUMEN Presentamos un caso de neurofibromatosis segmentaria, en un paciente de sexo masculino de 60 años de edad. Los neurofibromas se localizaban en región cervical, los mismos eran asintomáticos, de 8 años de evolución.

ABSTRACT A case of segmental neurofibromatosis in a 60 years old male patient is presented along with a brief review of the literature. The patient had 8 years old neurofibromas, located in the cervical region; they were asymptomatic. No other alteration of type 1 neurofibromatosis was found.

Atención odontológica a paciente pediatrico con neurofibromatosis tipo 1: relato de caso clínico / Atendimento odontológico de uma criança com neurofibromatose tipo 1: relato de caso clínico / Dental care for a pediatric patient with neurofibromatosis type 1: a clinical case report

Resumen Este relato de caso clínico presenta a una niña de 7 años de edad, con diagnóstico de neurofibromatosis tipo 1, que fue atendida en la clínica de Odontología para Pacientes con Necesidades Especiales de la Facultad de Odontología de la UFRGS. Al examen físico se observó neurofibroma plexiforme que afectaba el párpado superior del ojo derecho, que causaba ptosis, pérdida de visión y asimetría facial. Además, manchas color café con leche y pecas en la piel. Al examen clínico bucal, se observó atresia de la arcada dentaria superior, lesiones de caries dental activas y presencia generalizada de biopelicula microbiana sobre las superfícies dentárias y sangrado gingival. Fueron realizados todos los tratamientos odontológicos necesarios para la paciente, con los cuidados pertinentes. Concluímos que es de extrema importancia que los cirujanos dentistas cuenten con conocimiento sobre la neurofibromatosis y estén preparados para formar parte de equipos transdisciplinarios en salud.

Resumo Este caso clínico apresenta uma menina de 7 anos de idade, com diagnóstico de neurofibromatose tipo 1, que foi levada à clínica de Pacientes com Necessidades Especiais do Hospital de Ensino Odontológico da Faculdade de Odontologia da UFRGS. Ao exame físico, observou-se que ela apresentava neurofibroma plexiforme acometendo a pálpebra superior do olho direito, provocando ptose, perda da visão e assimetria facial. Também apresentava manchas cor de café com leite e efélides na pele. Ao exame clínico da cavidade bucal, observou-se atresia maxilar, lesões de cárie ativas e presença generalizada de biofilme e sangramento gengival. Foram realizados os tratamentos odontológicos necessários para a paciente, com os devidos cuidados. Concluímos que é de extrema importância o conhecimento da NF1 por parte dos odontólogos e trabalhar com equipe transdisciplinar.

Abstract This clinical case report presents a 7-year-old girl diagnosed with neurofibromatosis type 1 and treated at the Dental Clinic for Patients with Special Needs of the School of Dentistry of the Federal University of Rio Grande do Sul in Brazil. The physical examination revealed a plexiform neurofibroma involving the right upper eyelid and causing ptosis, vision loss, and facial asymmetry. It also showed café-au-lait spots and freckles on the skin. The oral clinical examination showed atresia of the upper dental arch, active dental caries lesions, generalized microbial biofilm on dental surfaces, and gingival bleeding. All the necessary dental treatments were provided with the appropriate care. Dental surgeons need to have knowledge of neurofibromatosis and be prepared to participate in transdisciplinary health teams.

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)

Reduced bone mineral content and density in neurofibromatosis type 1 and its association with nutrient intake

SUMMARY BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease characterized by multisystem involvement including low bone mineral density (BMD). OBJECTIVE To assess the bone phenotype of individuals with NF1 and verify its association with nutrient intake. METHODS Twenty-six adults with NF1 underwent bone phenotype assessments using dual-energy X-ray absorptiometry (DXA) and food intake evaluations. They were compared to 26 unaffected matched control patients. Weight, height, and waist circumference (WC) were measured. DXA provided total body, spine, and hip BMDs and bone mineral content (BMC) for all patients. Food intake was evaluated for energy, macro- and micro-nutrients. RESULTS Height (1.68 ± 0.1; 1.61 ± 0.1 cm; P = 0.003) and BMC (2.3 ± 0.4; 2.0 ± 0.5 kg; P = 0.046) were lower in the NF1 group. Individuals with NF1 also presented lower total body and spine BMDs (g/cm2) (1.1 ± 0.1, 1.0 ± 0.1, P = 0.036; 1.0 ± 0.1, 0.9 ± 0.1; P = 0.015, respectively). The frequency of total body bone mass below the expected level for patients' ages was higher in the NF1 group (7.7%; 34.6%, P = 0.016). There were no differences in energy consumption. No correlations between BMC and BMD with nutrient intake were observed in the NF1 group. CONCLUSIONS The NF1 group presented lower BMCs and BMDs. Although a lower consumption of calcium, iron, and vitamin A, and a higher intake of sodium and omega-6 were observed, there was no relationship between bone phenotype and nutrient intake.

RESUMO INTRODUÇÃO A Neurofibromatose tipo 1 (NF1) é uma doença genética autossômica dominante caracterizada por envolvimento neurocutâneo e multissistêmico, incluindo baixa densidade mineral óssea (DMO). OBJETIVOS Avaliar características ósseas em indivíduos com NF1 e verificar associação com a ingestão de nutrientes. METODOLOGIA 26 adultos com NF1 submeteram-se a avaliação dos parâmetros ósseos usando absorciometria com raios-X de dupla energia (DXA), além da avaliação da ingestão alimentar. O grupo NF1 foi comparado e pareado com 26 indivíduos sem a doença. Peso, estatura e circunferência da cintura foram avaliados. DXA forneceu o conteúdo mineral ósseo (CMO) e a DMO do corpo total, coluna e fêmur. A ingestão de calorias, macronutrientes e micronutrientes foi avaliada. RESULTADOS O grupo NF1 apresentou redução da estatura (1,68 ± 0,1; 1,61 ± 0,1 cm; P=0,003) e do CMO (2,3 ± 0,4; 2,0 ± 0,5 kg; P=0,046). Indivíduos com NF1 também apresentaram redução da DMO de corpo total e coluna (g/cm2) (1,1 ± 0,1, 1,0 ± 0,1, P=0,036; 1,0 ± 0,1, 0,9 ± 0,1; P=0,015, respectivamente). A frequência de indivíduos com massa óssea abaixo do esperado para a idade foi maior no grupo NF1 (7,7%; 34,6%, P=0,016). Não houve diferenças no consumo energético. Não houve correlação entre CMO e DMO com a ingestão de nutrientes no grupo NF1. CONCLUSÕES O grupo NF1 apresentou redução do CMO e da DMO. Apesar de menor consumo de cálcio, ferro e vitamina A, e maior consumo de sódio e ômega-6, não foi observada relação entre o fenótipo ósseo e a ingestão de nutrientes.

Neurofibrosarcoma of the mandible derived from neurofibromatosis

Neurofibrosarcoma is a rare malignant neoplasm of the head and neck region and accounts for 8% to 16% of all cases. Its origin is varied and may stem from cells of the peripheral nerves, develop de novo, or result from malignant transformation of preexisting neurofibromas. Because the features of neurofibrosarcomas are heterogeneous, the data retrieved during clinical examinations are of great aid for diagnosis. In this case, owing to clinical features and the fact that the patient had neurofibromatosis type 1, the hypothesis of neurofibrosarcoma was promptly established. The final diagnosis was confirmed by associating clinical, imaging, and pathological data. After the treatment, the patient has been followed up for 10 years, with no evidence of recurrence.

Jejunal stromal tumor and neurofibromatosis / Tumor estromal de jejuno e neurofibromatose

Abstract Gastrointestinal stromal tumors, although rare, are the most common primary mesenchymal neoplasms of the gastrointestinal tract and originate from the interstitial cells of Cajal. They present slow growth and symptoms such as bleeding, abdominal pain or discomfort, and the presence of an abdominal mass. The most affected organs are the stomach and small intestine. Differential diagnoses for gastrointestinal stromal tumor include adenocarcinoma and small intestine lymphoma, metastasis, and carcinoid tumor. Gastrointestinal stromal tumors have been associated with familial syndromes such as type 1 neurofibromatosis, considered a predisposing factor for tumors in the small intestine. This study aimed to report a case of gastrointestinal stromal tumor in the jejunal region in a patient with type 1 neurofibromatosis, followed-up for two years, who underwent laparoscopic segmental enterectomy and diagnosis determined by histopathology and immunohistochemistry. The diagnosis of small intestine gastrointestinal stromal tumor is challenging because of its low incidence, nonspecific symptoms, relative inaccessibility of the small intestine to conventional endoscopic examination, broad spectrum of radiological appearances, and the fact that the nature of the mass is difficult to determine with imaging examinations of the abdomen alone. Thus, the small intestine gastrointestinal stromal tumor may be erroneously diagnosed as pancreatic, gynecological, or mesenteric tumors. The literature does not present many reports on the association of jejunal gastrointestinal stromal tumor with neurofibromatosis. Understanding the tumoral behavior of small intestine gastrointestinal stromal tumor in this subgroup of patients would allow better follow-up.

Resumo Os tumores estromais gastrointestinais, embora raros, são as neoplasias mesenquimais primárias mais comuns do trato gastrointestinal e originam-se das células intersticiais de Cajal. Apresentam crescimento lento e manifestam sintomas como sangramento, dor ou desconforto abdominal e presença de massa abdominal. Os órgãos mais acometidos são estômago e intestino delgado. Os diagnósticos diferenciais para tumores estromais gastrointestinais incluem adenocarcinoma e linfoma de intestino delgado, metástases e tumor carcinoide. Os tumores estromais gastrointestinais têm sido associados a síndromes familiares como a neurofibromatose tipo 1, considerada um fator predisponente para tumores no intestino delgado. O objetivo desse trabalho é relatar um caso de tumor estromal gastrointestinal em região jejunal em paciente portadora de neurofibromatose tipo 1, com 2 anos de seguimento, submetida a enterectomia segmentar laparoscópica e diagnóstico determinados pela histopatologia e imuno-histoquímica. O diagnóstico de tumor estromal gastrointestinal do intestino delgado é desafiador, devido a sua baixa incidência, sintomas inespecíficos, relativa inacessibilidade do intestino delgado ao exame endoscópico convencional, amplo espectro de aparências radiológicas e difícil determinação da natureza da massa apenas com exames de imagens do abdome. Assim, tumor estromal gastrointestinal no intestino delgado podem ser erroneamente diagnosticados como tumores pancreáticos, tumores ginecológicos, ou tumores do mesentério. A descrição científica da associação de tumor estromal gastrointestinal de jejuno com neurofibromatose é incomum. Tais descrições permitem melhor seguimento dos pacientes a partir do momento que se entende o comportamento tumoral do tumor estromal gastrointestinal de intestino delgado nesse subgrupo de pacientes.

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)