Neurofibromatosis tipo 2, entidad a tener presente durante la práctica clínica / Neurofibromatosis type 2, entity to have present during clinical practice

La neurofibromatosis tipo 2 es un trastorno poco frecuente, que pertenece al grupo de las neurofibromatosis, que se caracterizan por la mayor propensión al desarrollo de tumores. Se presenta con múltiples tumores no malignos del sistema nervioso, incluidos schwannomas, meningiomas, ependimomas y gliomas, siendo los schwannomas vestibulares bilaterales una característica clásica. La mayoría de los casos se diagnostican en la adultez, sin embargo, las características clínicas habitualmente están presentes durante muchos años antes del diagnóstico. Es importante un alto índice de sospecha y un adecuado examen cutáneo y neurológico, ya que es crítico para hacer un diagnóstico correcto y precoz, y así, realizar un tratamiento interdisciplinario adecuado, evitando posibles complicaciones como son la pérdida auditiva y el uso de ayudas técnicas.

Neurofibromatosis type 2 is a rare disorder, belonging to the group of neurofibromatosis, which are characterized by the propensity for tumor development. The usual presentation are multiple non-malignant tumors of the nervous system, including schwannomas, meningiomas, ependymomas, and gliomas, with bilateral vestibular schwannomas being a classic feature. Most cases are diagnosed in adulthood; however, the clinical features are usually present for many years before diagnosis. A high index of suspicion and an adequate skin and neurological examination are important, since it is critical to make a correct and early diagnosis, so an appropriate interdisciplinary treatment can be performed, avoiding possible complications such as hearing loss and use of technical aids.

Molecular Characterization of the NF2 Gene in Korean Patients with Neurofibromatosis Type 2: A Report of Four Novel Mutations / 대한진단검사의학회지

BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by the NF2 tumor suppressor gene. However, the NF2 mutation characteristics in Korean patients are not sufficiently understood. In this study, we conducted a comprehensive mutational analysis in 7 Korean NF2 patients by performing direct sequencing and gene-dosage assessment. METHODS: We analyzed all exons and flanking regions of NF2 by direct sequencing and screened the deletions or duplications involving NF2 by multiplex ligation-dependent probe amplification. RESULTS: Four novel NF2 mutations, including 2 splice-site mutations (c.364-1G>A and c.886-3C>G), 1 frameshift mutation (c.524delA), and 1 missense mutation (c.397T>C; p.Cys133Arg), were identified in our patients. No large deletion or duplication was identified in our series. Subsequently, we identified an abnormal splicing product by using reverse transcription-PCR and direct sequencing in 2 patients with a novel splice-site mutation. The missense mutation c.397T>C was predicted to have harmful effects on protein function. CONCLUSIONS: The detection rate of NF2 mutations in Korean patients (57%) is similar to those in other populations. Our results provided a greater insight into the mutational spectrum of the NF2 gene in Korean subjects.

[Common clinical aspects of tuberous sclerosis and neurofibromatosis in Mashhad]

Since CNS is derived from ectoderm during the fetal period, there are some common congenital or hereditary conditions that affect both the skin and nervous systems. Such conditions are traditionally called neurocutaneous disorders or phakomatosis.In this study, we have reviewed the most common clinical features and paraclinical findings in neurofibromatosis [NF] and tuberous sclerosis. In this cross sectional study, 50 patients with tuberous sclerosis or NF were chosen among all the patients who referred to the neurological clinic of Shahrivar 17th Hospital during a ten-month period. They were physically examined to detect any suspicion of neuroectodermal syndromes employing paraclinic exams like CT scan, MRI and EEG. Information about patients' familial history, age, sex, clinical and paraclinical findings was collected to fill out the questionnaires. Finally, the data were analyzed with SPSS and SAS soft wares. 80% of our patients had NF. The ratio of males to females was calculated as 1.1. The average age for the emergence of the disease was 7.8 years old for tuberous sclerosis, 11.3 years old for NF1 and 59 years old for our only case of NF2. The most common manifestation of these syndromes was Cutaneus Lesions [88.9% in tuberous sclerosis and 100% in NF]. Seizure and mental retardation were also common features in tuberous sclerosis with frequencies of 88.9% and 75%, respectively. Paraclinical studies were helpful in diagnosing the 50% of tuberous sclerosis and the8.7% of neurofibromatosis cases. Clinical and paraclinical manifestations of neurocutaneous disorders in this study are similar to other studies in the world

Neurofibromatosis: a propósito de un caso / Neurofibromatosis: a proposal of a case

La neurofibromatosis (NF) forma parte de los síndromes neurocutáneos que presentan manifestaciones clínicas multisistémicas. Se describen ocho entidades, de las cuales las más frecuentes (98 por ciento-99 por ciento) corresponden a la NF tipo I y II, ambas enfermedades de herencia autosómica dominante, localizadas en los cromosomas 17 y 22, respectivamente. Específicamente, la NF tipo I se caracteriza por la presencia de manchas café con leche, seudoefélides inguinales y axilares, schwannomas y neurofibromas plexiformes. Además, se asocia compromiso de tipo neurológico (50 por ciento), con retraso del desarrollo psicomotor (10 por ciento-20 por ciento) y convulsiones (8 por ciento-13 por ciento) y compromiso óseo (50 por ciento), con escoliosis (20 por ciento), talla baja (10 por ciento) y pseudoartrosis (8 por ciento). A modo de ejemplo se describe el caso de un paciente portador de NF tipo I que presentó un neurofibroma plexiforme, cuyo diagnóstico diferencial era neurofibrosarcoma, el cual presentó una evolución benigna satisfactoria

Mengiomas / Mengiomas

Este artículo contempla una revisión de la literatura sobre la patogénesis e histopatología de los meningiomas y su comportamiento radiológico; las clasificaciones en tipos histológicos y de la Organización Mundial de la Salud que permite establecer las características tumorales para conocer su comportamiento y probabilidades de recurrencia. Dentro de los factores predisponentes está el antecedente de tratamientos con radioterapia, enfermedades genéticas como la Neurofibromatosis tipo 2 y defectos del Cromosoma 22. Las características radiológicas tales como lobulaciones, extensión del edema peritumoral, tamaño del tumor, la delimitación tumoral con respecto al parenquima subyacente entre otros son, importantes para tratar de establecer el comportamiento biológico de estos tumores y en algunos casos predecir el tipo histológico. Se presentan los casos ilustrados con su resumen clínico, imagenes radiológicas y su respectiva histopatología como primera etapa de este estudio prospectivo de un año. Palabras clave: Tumores cerebrales, meningioma, comportamiento biológico, edema peritumoral

Liposarcoma en neurofibromatosis 1: dos observaciones / Liposarcoma in neurofibromatosis 1: two observations

El liposarcoma es, en frecuencia, el segundo tumor maligno de partes blandas, luego del histiocitoma fibroso maligno. Sin embargo, su presencia en la neurofibromatosis, una genodermatosis con potencial maligno, no está debidamente documentada. Presentamos dos pacientes con NF 1 en los que apareció el liposarcoma, ambas personas jóvenes (17 y 29 años), con el tumor localizado en miembro inferior derecho. La evolución ha sido muy maligna en el caso 1, con metástasis y muerte, y atenuada en el caso 2, donde el diagnóstico más precoz y la terapéutica instituida (cirugía y quimioterapia) permitieron controlar la enfermedad (2 años de observación). Se enfatiza la presencia de liposarcoma en NF 1

Neurofibromatosis type2 associated with total callosal absence: a causal relationship!

A combination of neurofibromatosis type 1 and agenesis of the corpus callosum, has previously been reported in one patient by magnetic resonance [MR] imaging. This paper describes MR findings in a patient with neurofibromatosis type 2 associated with total callosal absence. Such a combination has not been reported before. The author suggests that a congenital lesion related with neurofibromatosis occurring at the region of the comissural plate, where the corpus callosum begins to develop, may be the causative factor for total callosal absence in patients with neurofibromatosis

Experiência em 115 casos de cirurgia para exérese de neurinoma do acústico / Experience in 115 cases of acoustic neurinoma exeresis surgery

Foram estudados 115 pacientes com neuroma de acústico, entre janeiro de 1986 e agosto de 1994, submetidos à exerese pelo mesmo cirurgiäo, atendidos no Hospital das Clínicas da Faculdade de Medicina da Universidade de Säo Paulo e em clínica privada. Säo apresentados os achados clínicos e diagnósticos. A via translabiríntica foi utilizada em 87 por cento dos caso. Quando a preservaçäo da audiçäo foi aventada, foram adotadas as vias fossa média ou retrolabiríntica. Apesar do diagnóstico precoce, o número de pacientes possíveis de preservaçäo da audiçäo permanece limitado. Estes resultados enfatizam as vantagens da via translabiríntica, oferecendo maior segurança para o nervo facial e morbilidade. A via retrolabiríntica é técnica com grande futuro para a preservaçäo da audiçäo. Na nossa série, 50 por cento dos pacientes tiveram boa preservaçäo da audiçäo

Neurofribroma plexiforme de colon transverso: relato de caso / Large bowel plexiform neurofibroma: a case report

Tumores neurogenicos de colon sao raros na populacao geral, mas podem ocorrer em 11 a 25 por cento dos pacientes com doenca de von Recklinghausen . Apresentamos o caso de uma paciente de 24 anos de idade com neurofibroma plexiforme do intestino grosso cuja manifestacao inicial caracterizou-se por aparecimento de massa no hipocondrio e flanco esquerdos. A paciente nao apresentava, ao exame fisico, sinais de neurofibromatose