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

Neurofibroma Plexiforme Vesical em portador de Neurofibromatose: relato de caso / Bladder Plexiform Neurofibroma in Neurofibromatosis carrier: a case report / Neurofibroma Plexiforme Vesical en portador de Neurofibromatosis: relato de caso

Introdução: A neurofibromatose do tipo 1 (NF1) é uma doença hereditária de caráter autossômico dominante, com penetrância completa e relacionada a mutações no gene NF1 (17q11.2). Apresenta expressão extremamente variável e predisposição à ocorrência de tumores. Complicações como neurofibromas viscerais estão presentes em apenas 1% dos casos de NF1. Neurofibromas vesicais são extremamente raros. Relato do caso: O presente caso faz referência a um paciente do sexo masculino com 4 anos de idade que apresentava sinais e sintomas de disfunção urinária e intestinal associados a desvio da coluna lombossacra. Ao exame, foram identificadas características típicas de NF1 e os exames complementares permitiram o diagnóstico de um neurofibroma vesical. Posteriormente, foi concluído o diagnóstico de NF1. Conclusão: O diagnóstico de síndromes predisponentes ao câncer e o rastreio de tumores associados a essas condições são essenciais aos portadores dessas doenças.

Introduction: Type 1 neurofibromatosis is an inherited autosomal dominant disease with complete penetrance and is related to mutations in the NF1 gene (17q11.2). It presents extremely variable expression and predisposition to the occurrence of tumors. Complications such as visceral neurofibromas occurs in only 1% of NF1 cases. Vesical neurofibromas are extremely rare. Case report: Here in, we expose a case of a 4 years old boy, who presented signs and symptoms of urinary and intestinal dysfunction associated with lumbosacral spine deviation. His physical exam had neurofibromatosis type 1 features and the complementary exams revealed a vesical neurofibroma. Subsequently, a neurofibromatosis type 1 diagnosis was performed. Conclusion: Diagnose tumor predisposing syndromes and associated complications is essential for these patients.

Introducción: La neurofibromatosis tipo 1 es una enfermedad hereditaria de carácter autosómico dominante, con penetración completa y relacionada con mutaciones en el gen NF1 (17q11.2). Se presenta una expresión extremadamente variable y predisposición a la ocurrencia de tumores. Las complicaciones como los neurofibromas viscerales están presentes en sólo el 1% de los casos de NF1. Los neurofibromas vesicales son extremadamente raros. Relato del caso: Exponemos el caso de un niño de 4 años que presentaba signos y síntomas de disfunción urinaria e intestinal asociados a la desviación de la columna lumbosacra. En el examen se identificaron características típicas de neurofibromatosis y los exámenes complementarios permitieron el diagnóstico de un neurofibroma vesical. Se ha concluido el diagnóstico de neurofibromatosis del tipo 1. Conclusión: Diagnosticar los síndromes predisponentes del tumor y las complicaciones asociadas son esenciais para estos pacientes.

Plexiform Neurofibroma: An Unusual Diagnosis of Lip Swellings.

Neurofibromas (NF) are seen either as a solitary lesion or as part of the generalized syndrome of NF (NF-1, also known as Von Recklinghausen disease of the skin). In plexiform neurofibroma (PN), there is proliferation of Schwann cells from the inner aspect of the nerve sheath, thereby resulting in an irregularly thickened, distorted, tortuous structure. Oral involvement by a solitary and peripheral PN in patients with no other signs of NF is rarely seen. It is reported that only 4-7% of patients affected by NF display oral manifestations. A solitary PN in a patient with no other symptoms is a diagnostic challenge, more so when the location of the lesion is one of the rarest sites.

High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60 percent females, 40 percent males) who met the NIH criteria for the diagnosis of NF1, 98 percent had more than six café-au-lait patches, 94.5 percent had axillary freckling, 45 percent had inguinal freckling, and 87.5 percent had Lisch nodules. Cutaneous neurofibromas were observed in 96 percent, and 40 percent presented plexiform neurofibromas. A positive family history of NF1 was found in 60 percent, and mental retardation occurred in 35 percent. Some degree of scoliosis was noted in 49 percent, 51 percent had macrocephaly, 40 percent had short stature, 76 percent had learning difficulties, and 2 percent had optic gliomas. Unexpectedly high frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the Neurofibromatosis Program. These same patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism. Four different mutations (Q1189X, 3525-3526delAA, E1356G, c.4111-1G>A) and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G) were identified. These data were recently published.

Tumores neurogénicos benignos de cuello / Benign neurogenic tumors of neck

Los tumores neurogénicos de cuello son poco habituales. Esta escasa frecuencia explica el motivo por el cual, usualmente, no se postula su diagnóstico. En una masa cervical ubicada en la región de los nervios craneales, plexo cervical, cadena simpática cervical o nervios periféricos mayores, debe considerarse un origen neurogénico. Una resección no planificada puede ocasionar secuelas neurológicas que en algunas ocasiones podrían evitarse. Presentamos 3 casos tratados en el Servicio de Cirugía del Hospital de Valdivia, describiendo las principales características clínicas e histológicas de cada uno de ellos, su tratamiento y evolución. Además, se entrega una revisión actualizada en relación a esta rara e infrecuente patología