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.

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 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.

Luxación recidivante de la cadera en la neurofibromatosis tipo-1 / Recurrent hip dislocation in neurofibromatosis type-1

RESUMEN Introducción: La neurofribomatosis tipo 1 es un desorden genético común que puede afectar el esqueleto de forma frecuente. Las manifestaciones esqueléticas de la neurofibromatosis tipo 1 incluyen escoliosis, pseudoartrosis congénita de tibia y lesiones quísticas intraoseas. Objetivo: Describir las características clínicas e imagenológicas de esta enfermedad, encontradas en el caso que se presenta, así como el tratamiento realizado y la evolución de la paciente. Presentación del caso: Se presenta una luxación de la cadera resultante de un neurofibroma intraarticular en una paciente femenina de 17 años que sufrió un trauma menor. La luxación y su causa en esta paciente fueron sospechadas en un inicio por el cuadro clínico y los hallazgos anormales en las primeras radiografías de pelvis, y más tarde fue confirmada con tomografía axial computarizada e imágenes por resonancias magnéticas. Se le realizó una reducción cerrada bajo anestesia general con posterior tracción por partes blandas durante cuatro semanas. El caso fue seguido por consulta externa durante un año sin presentar un nuevo episodio de luxación de cadera. Conclusiones: La luxación recidivante de cadera asociada con neurofibromatosis tipo 1 es una ocurrencia rara y está poco reportada en la literatura. Este caso ilustra las características clínicas y sobre todo imagenológicas de la neurofibromatosis tipo 1, mediante las radiografías, imágenes por resonancia magnética y tomografía axial computarizada con reconstrucción. El tratamiento realizado, reducción cerrada bajo anestesia general con posterior tracción por partes blandas durante cuatro semanas, fue satisfactorio(AU)

ABSTRACT Introduction: Neurofribomatosis type 1 is a common genetic disorder that can frequently affect the skeleton. Skeletal manifestations of type 1 neurofibromatosis include scoliosis, congenital pseudoarthrosis of the tibia, and intraosseous cystic lesions. Objective: To describe the clinical and images characteristics of this disease, which are present in the case we report, and to describe the treatment and evolution of the patient. Case report: A hip dislocation resulting from an intra-articular neurofibroma is presented in a 17-year-old female patient who suffered minor trauma. Dislocation and its cause in this patient were initially suspected due to the clinical condition and abnormal findings on the first pelvis x-rays and later it was confirmed by computed tomography and magnetic resonance imaging. Closed reduction was performed under general anesthesia with posterior soft tissue traction for four weeks. The case was followed by outpatient consultation for one year with no new episode of hip dislocation. Conclusions: Recurrent hip dislocation associated with neurofibromatosis type 1 is a rare occurrence and it is poorly reported in the literature. This case illustrates the clinical and particularly imaging characteristics of type 1 neurofibromatosis, using x-rays, magnetic resonance imaging, and computed tomography with reconstruction. Closed reduction under general anesthesia was the treatment performed followed by soft tissue traction for four weeks, which was satisfactory(AU)

RÉSUMÉ Introduction: La neurofibromatose de type 1 (NF1) est un trouble génétique commun qui peut affecter fréquemment le squelette. Les manifestations squelettiques de la neurofibromatose de type 1 comprennent la scoliose, la pseudarthrose congénitale du tibia et les lésions kystiques intra-osseuses. Objectif: Décrire les caractéristiques cliniques et radiographiques de cette maladie rencontrées dans ce cas, ainsi que le traitement appliqué et l'évolution de la patiente. Présentation du cas: Le cas d'une patiente âgée de 17 ans atteinte de luxation de la hanche dû à un neurofibrome intra-articulaire et souffrant un traumatisme insignifiant, est présenté. Dès le début, la luxation et sa cause ont été suspectées, étant donné le tableau clinique et les résultats anormaux des premières radiographies du bassin, qui ont été confirmés plus tard par tomographie axiale assistée par ordinateur et IRM. Une réduction fermée sous anesthésie générale avec une traction postérieure des parties molles pendant quatre semaines a été réalisée. Ce cas a été suivi en consultation externe pendant un an sans présenter un nouvel épisode de luxation de hanche. Conclusions: La luxation récidivante de hanche liée à une neurofibromatose de type 1 est une affection rare et peu abordée dans la littérature. Ce cas met en évidence les caractéristiques cliniques, et particulièrement radiographiques, de la neurofibromatose de type 1 au moyen de radiographies, IRM et tomographie avec reconstruction. Le traitement appliqué, c'est-à-dire, la réduction fermée sous anesthésie générale avec une traction postérieure des parties molles pendant quatre semaines, a été satisfaisant(AU)

Surgical treatment of a massive neurofibroma of the head and neck in a patient with neurofibromatosis type 1: a case report / Tratamiento quirúrgico de un neurofibroma masivo de cabeza y cuello en un paciente con neurofibromatosis tipo 1: reporte de un caso

SUMMARY: Neurofibromatosis type 1 (NF1) is a rare autosomal dominant neurogenetic disease with variable clinical manifestations, which are primarily manifested as neurofibromas, café-au-lait macules (CALMs) and skeletal deformities. Although generally benign, expansile neurofibromas that are characteristic of NF1 readily lead to disturbing deformities. It is often difficult to surgically extirpate a tumor that involves these important tissues or organs. We report a rare case of a patient with neurofibromatosis Type 1. The patient presented with a congenital giant scalp neurofibroma and CALMs in the occipito-cervical region, in addition to ear and occipital deformities. We performed a challenging surgical intervention (a near-total resection) to reduce the tumor burden and rehabilitate the appearance and function of the patient while preserving the intracranial tissue structure. Here, we review this case and analyze the clinical manifestations, diagnosis and management of NF1.

RESUMEN: La neurofibromatosis tipo 1 (NF1) es una rara enfermedad neurogenética autosómica dominante, con manifestaciones clínicas variables, que se manifiestan principalmente como neurofibromas, máculas café con leche (CALM) y deformidades esqueléticas. Generalmente los neurofibromas expansivos benignos que son característicos de NF1 conducen fácilmente a deformidades exageradas. A menudo es difícil extirpar quirúrgicamente un tumor que involucra estos tejidos u órganos importantes. Presentamos un caso raro de un paciente con neurofibromatosis tipo 1. La paciente presentó un neurofibroma congénito gigante del cuero cabelludo y CALM en la región occipitocervical, además de deformidades del oido y región occipital. Realizamos una intervención quirúrgica desafiante (una resección casi total) para reducir la carga tumoral y rehabilitar la apariencia y función de la paciente mientras se preservó la estructura del tejido intracraneal. Aquí, revisamos este caso y analizamos las manifestaciones clínicas, el diagnóstico y el tratamiento de NF1.

Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient

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

Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1

Abstract: We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was treated conservatively by a multidisciplinary team. So far, no changes have been observed in the patient's clinical status. We observed no recurrence of peripheral giant cell granuloma. To the best of our knowledge, the present case is the first report of a patient with neurofibromatosis Type 1 associated with a giant cell lesion and florid cemento-osseous dysplasia.

Oral Manifestations of Neurofibromatosis: A Rare Case Report.

Neurofibroma (NF) is a rare benign non-odontogenic tumor of the oral cavity. NF may present either as solitary lesions or as part of the generalized syndrome of NF or von Recklinghausen’s disease of the skin. The heterogeneous nature of NF was established by Riccardi et al. and he recognized at least seven types of NF. Among these proposed classifications of the disease, two distinct forms are generally accepted namely, a peripheral form known as NF Type I (NF-I), and a central form known as NF-II. NF-I represents the classic form of this disease, described by Recklinghawsen in 1882. Clinically, oral NF usually appears as slow growing, painless, pedunculated or sessile nodules. For illustration, a case of a NF with oral findings is been presented.

Hallazgos clínicos y oftalmológicos en niños con neurofibromatosis 1 / Clinical and ophthalmological findings in children with type 1 neurofibromatosis

Este trabajo tuvo por objetivos determinar la incidencia en nuestro medio de los criterios diagnósticos del National Institutes of Health (NIH) en niños con Neurofibromatosis 1 (NF1), comparar con estadísticas publicadas, analizar los hallazgos oftalmológicos, el valor de los estudios complementarios y establecer criterios de seguimiento. Métodos: Se trata de un estudio retrospectivo que incluyó 245 pacientes que ingresaron al Hospital de Pediatría Garrahan entre los años 1988 y 2010. Se diagnosticó NF1 en la primera consulta multidisciplinaria, utilizando los criterios de NIH, efectuándose en algunos niños neuroimágenes y potencial evocado visual (PEV). Resultados: El 92% de los pacientes presentó manchas café con leche; 40.8% neurofibromas, 75.5% nódulos de Lisch; 38.8% efeliloides; 16.3% glioma del nervio óptico; 16.3% displasia esquelética y 49% fueron hereditarios. Evidenciamos 1.76 miopías por cada hipermetropía. Conclusiones: Las frecuencias halladas coinciden con reportes previos, a excepción de las efeliloides, con incidencia menor. Realizamos de elección resonancia magnética nuclear (RMN), aún en pacientes asintomáticos, repitiéndolas bianualmente y examen oftalmológico cada seis meses hasta los ocho años. No indicamos actualmente PEV (AU)

The objective of this study was to determine the incidence of the National Institutes of Health (NIH) diagnostic criteria in children with Neurofibromatosis type 1 (NF1) in our setting, to compare them with the published statistical data, ophthalmological findings, the importance of complementary studies, and to establish follow-up criteria. Methods: We conducted a retrospective study including 245 patients that were admitted to the Pediatric Hospital Garrahan between 1988 and 2010. NF1 was diagnosed at the first multidisciplinary visit, using the NIH criteria. Neuroimaging and visual evoked potentials (VEP) were performed in some of the children. Results: 92% of the patients had café au laity spots; 40.8% neurofibromas; 75.5% Lisch nodules; 38.8% ephelides; 16.3% optic-nerve glioma; and 16.3% skeletal dysplasia. The disorder was hereditary in 49%. For each hypermetry,1.76 myopias were observed. Conclusions: These rates found were according to previous reports, except for ephelides, which were less common. Elective magnetic resonance imaging (MRI ) was performed, even in asymptomatic patients, and was repeated biannually and ophthalmological examination was done every six months until nine years of age. Currently, we do not indicate VEP

Neurofibromatosis plexiforme: estudio con RM de dos casos clínicos y revisión de la literatura / Plexiform neurofibromatosis: MRI study of two clinical cases and review of the literature

Von Recklinghausen's disease orneurofibromatosis type 1 is a genetic disorder characterized by cutaneous lesions, skeletal malformations and some degree of mental impairment. It is common that neurofibromas appear, these are slow growing, benign tumours of the neural sheath. Plexiform neurofibromas are patognomonic ofNF 1. These are characterized by a late diagnosis when they compromise nerve function or when they have associated soft tissue deformity. They must be studied directly because they have a higher risk of malignant transformation. We present two patients that debuted with plexiform neurofibromas with a review of the literature on the subject.

La enfermedad de Von Recklinghausen o neurofibromatosis tipo 1 es una enfermedad genética caracterizada por lesiones cutáneas, malformaciones esqueléticas y algún grado de retraso mental. En el curso de la enfermedad la presencia de neurofibromas, tumores de la vaina nerviosa de comportamiento benigno y crecimiento lento es altamente probable, siendo los plexiformes patognomónicos de la enfermedad. Estos generalmente se diagnostican en estadios avanzados con compromiso de la función de los nervios involucrados o gran deformidad de partes blandas. Deben estudiarse de manera muy dirigida ya que tienen mayor riesgo de hacer una transformación maligna. Presentamos dos pacientes que debutaron con neurofibromas plexiformes, con una revisión de la literatura sobre el tema.

Absence of a Sphenoid Wing in Neurofibromatosis Type 1 Disease: Imaging with Multidetector Computed Tomography

Neurofibromatosis type 1 disease is characterized by pigmented cutaneous lesions and generalized tumors of a neural crest origin and it may affect all the systems of the human body. Sphenoid dysplasia is one of the characteristics of this syndrome and it occurs in 5-10% of the cases; further, abnormalities of the sphenoid wings are often considered pathognomonic. However, complete agenesis of a sphenoid wing is very rare. We report here on an unusual case of neurofibromatosis type 1 disease with the associated absence of a sphenoid wing that was diagnosed by using multidetector computed tomography.

Bone manifestations during Von Recklinghausen disease. About 8 cases

About 8 cases of osseous lesions in patients with Von Recklinghausen disease, the authors report the different radiologic findings encountered in this affection