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1.
Arch. argent. pediatr ; 121(3): e202202782, jun. 2023. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1437252

ABSTRACT

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


Subject(s)
Humans , Male , Infant , Neurofibromatosis 1/complications , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/pathology , Neurofibroma, Plexiform/surgery , Neurofibroma, Plexiform/complications , Neurofibroma, Plexiform/diagnosis , Larynx/pathology , Respiratory Sounds/etiology , Endoscopy
2.
Odontoestomatol ; 24(39): 1-13, 2022.
Article in Spanish | LILACS, BNUY-Odon, BNUY | ID: biblio-1370316

ABSTRACT

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.


Subject(s)
Humans , Male , Child, Preschool , Jaw, Edentulous, Partially/complications , Neurofibromatosis 1/complications , Dental Caries/complications , Humanization of Assistance , Jaw, Edentulous, Partially/therapy , Dental Caries/therapy , Denture, Partial, Removable
4.
Arq. bras. neurocir ; 40(1): 107-112, 29/06/2021.
Article in English | LILACS | ID: biblio-1362261

ABSTRACT

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.


Subject(s)
Humans , Male , Young Adult , Neurofibromatosis 1/surgery , Neurofibromatosis 1/complications , Venous Thrombosis/etiology , Venous Thrombosis/drug therapy , Neurofibromatosis 1/diagnostic imaging , Enoxaparin/therapeutic use , Ultrasonography, Doppler/methods , Venous Thrombosis/diagnostic imaging , Rivaroxaban/therapeutic use , Neurofibroma/surgery
5.
Chinese Medical Journal ; (24): 1983-1987, 2021.
Article in English | WPRIM | ID: wpr-887638

ABSTRACT

BACKGROUND@#Scoliosis secondary to neurofibromatosis type 1 (NF1) in children aged 10°/year) were identified. The age at modulation and the AV before and after modulation were obtained. Patients with (n = 18) and without rapid curve progression (n = 10) were statistically compared.@*RESULTS@#Twenty-eight patients with a mean age of 6.5 ± 1.9 years at the initial visit were reviewed. The mean Cobb angle of the main curve was 41.7° ± 2.4° at the initial visit and increased to 67.1° ± 8.6° during a mean follow-up of 44.1 ± 8.5 months. The overall AV was 6.6° ± 2.4°/year for all patients. At the last follow-up, all patients presented curve progression of >5°, and 20 (71%) patients had progressed by >20°. Rapid curve progression was observed in 18 (64%) patients and was associated with younger age at the initial visit and a higher incidence of modulation change during follow-up (t = 2.868, P = 0.008 and 10°/year is associated with younger age at the initial visit, and modulation change indicated the occurrence of the rapid curve progression phase.


Subject(s)
Child , Child, Preschool , Humans , Braces , Disease Progression , Neurofibromatosis 1/complications , Retrospective Studies , Scoliosis/diagnostic imaging , Treatment Outcome
6.
Autops. Case Rep ; 9(4): e2019094, Oct.-Dec. 2019. ilus
Article in English | LILACS | ID: biblio-1024293

ABSTRACT

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.


Subject(s)
Humans , Female , Adolescent , Mouth Neoplasms/etiology , Neurofibromatosis 1/complications , Neurofibrosarcoma/diagnosis , Mandibular Reconstruction , Neurilemmoma
7.
Rev. cuba. ortop. traumatol ; 33(2): e170, jul.-dic. 2019. ilus
Article in Spanish | CUMED, LILACS | ID: biblio-1126738

ABSTRACT

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)


Subject(s)
Humans , Female , Adolescent , Neurofibromatosis 1/complications , Neurofibromatosis 1/diagnostic imaging , Closed Fracture Reduction/methods , Hip Dislocation/therapy , Hip Dislocation/diagnostic imaging
8.
J. coloproctol. (Rio J., Impr.) ; 39(4): 385-388, Oct.-Dec. 2019. ilus
Article in English | LILACS | ID: biblio-1056637

ABSTRACT

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.


Subject(s)
Humans , Female , Middle Aged , Neurofibromatosis 1/complications , Gastrointestinal Stromal Tumors/complications , Jejunal Neoplasms/complications , Laparoscopy , Gastrointestinal Stromal Tumors/surgery , Gastrointestinal Stromal Tumors/diagnostic imaging , Jejunal Neoplasms/surgery , Jejunal Neoplasms/diagnostic imaging
10.
Arq. bras. oftalmol ; 82(2): 155-157, Mar.-Apr. 2019. tab
Article in English | LILACS | ID: biblio-989400

ABSTRACT

ABSTRACT - Numerous studies have reported on structural vascular anomalies and ischemia associated with neurofibromatosis type 1 that are thought to stem from dysfunction of neurofibromin, the neurofibromatosis type 1 protein. Documented cases of associated antiphospholipid syndrome fulfilling the accepted diagnostic criteria are exceptionally rare, with only three cases reported in the literature. Here, we report on a patient with neurofibromatosis type 1 and a history of spontaneous abortions presenting with sudden vision loss in the right eye and swelling of the optic nerve head. Fluorescein angiography indicated anterior ischemic optic neuropathy. Brain magnetic resonance imaging revealed findings consistent with left cavernous sinus meningioma. Serologic testing demonstrated persistently elevated anti-b2-glycoprotein antibodies. Her findings suggested antiphospholipid syndrome with concomitant clinical and laboratory evidence of antiphospholipid syndrome: frequent abortions, a vaso-occlusive episode, and persistently elevated antiphospholipid syndrome antibodies. To our knowledge, this case represents the first neuro-ophthalmic manifestation of antiphospholipid syndrome associated with neurofibromatosis type 1.


RESUMO - Inúmeros estudos têm relatado anomalias vasculares estruturais e isquemia associada com à neurofibromatose tipo 1 que, acredita-se, resultam da disfunção da neurofibromina, a proteína tipo 1 da neurofibromatose. Casos documentados de síndrome antifosfolípide associada que atendem aos critérios diagnósticos aceitos são excepcionalmente raros, com apenas três casos relatados na literatura. Aqui, relatamos um paciente com neurofibromatose tipo 1 e histórico de abortos espontâneos apresentando perda repentina de visão no olho direito e edema de cabeça do nervo óptico. A angiofluoresceínografia indicou neuropatia óptica isquêmica anterior. Ressonância magnética cerebral revelou achados compatíveis com meningioma do seio cavernoso esquerdo. O teste sorológico demonstrou anticorpos anti-b2 glicoproteína persistentemente elevados. Seus achados sugerem síndrome antifosfolípide com evidências clínicas e laboratoriais concomitantes de síndrome antifosfolipídica: abortos frequentes, episódio vaso-oclusivo e anticorpos antifosfolípides persistentemente elevados. Pelo nosso conhecimento, este caso pode representar a primeira manifestação neuro-oftálmica da síndrome antifosfolípide associada à neurofibromatose tipo 1.


Subject(s)
Humans , Female , Adult , Antiphospholipid Syndrome/complications , Neurofibromatosis 1/complications , Fluorescein Angiography/methods , Abortion, Spontaneous/etiology , Antiphospholipid Syndrome/diagnosis , Neurofibromatosis 1/diagnosis , Tomography, Optical Coherence/methods
11.
An. Facultad Med. (Univ. Repúb. Urug., En línea) ; 5(1): 64-69, jun. 2018. ilus, tab
Article in Spanish | LILACS, BNUY, UY-BNMED | ID: biblio-1088673

ABSTRACT

La neurofibromatosis es el síndrome neurocutáneo más frecuente, una enfermedad hereditaria con afectación multisistémica. Se distinguen tres formas clínicas de la enfermedad; la neurofibromatosis tipo 1 (NF-1) es la más frecuente. A las lesiones cutáneas, presentes en la mayoría de los casos, se pueden asociar tumores en cualquier localización. Los neurofibromas son característicos de la NF-1. El objetivo de esta comunicación es describir una complicación poco frecuente de la NF-1 que representa un desafío terapéutico debido a la topografía y frecuencia de recidivas. Se trata de una niña de 3 años con NF-1 con síntomas de mielopatía multisegmentaria de instalación progresiva de dos meses de evolución. La imagenología evidenció una tumoración cérvico-dorsal con compresión medular. La exéresis tumoral permitió confirmar neurofibroma intradural, extramedular. Los neurofibromas plexiformes se caracterizan por su comportamiento infiltrativo y diseminación paraespinal extensa. La resección de estas lesiones genera habitualmente morbilidad asociada al compromiso de estructuras críticas extraespinales y dificulta su resección completa tal como ocurrió en el caso clínico presentado. Se destaca la importancia de realizar un correcto seguimiento clínico y eventualmente imagenológico de los pacientes con NF-1 para detectar y abordar oportunamente los tumores, su complicación más importante.


Neurofibromatosis is one of the most frequent neurocutaneous syndrome. It is an inherited diseasewhich affects multiple systems. Three clinical presentations of the disease can be distinguished being type 1 neurofibromatosis the most common. Tumors at any body location can be associated to the usually presented cutaneous lesions. Neurofibromas are characteristic of type 1 neurofibromatosis. The aim of this study is to describe a less frequent complication of the disease which represents a therapeutic challenge due to its topography and frequency of recurrences. This is the case of a 3 year-old girl with type 1 neurofibromatosis with symptoms of multisegmental myelopathy. A cervical-dorsal tumor with medullary compression was shown in medical imaging. Tumor extraction allowed to confirm intradural, extramedullary neurofibroma. Plexiform neurofibromas are characterized by their infiltrative behavior and extensive paraspinal dissemination. Resection of these lesions usually generates morbidity associated with the involvement of extra-spinal critical structures and hinders their complete resection as occurred in the presented clinical case. It is important to perform a correct clinical and eventually imaging follow-up of patients with NF-1 to detect and treat tumors, its most important complication.


Neurofibromatose é a syndrome neurocutânea mais freqüente, uma doença hereditária com envolvimento multissistêmico. Três formas clínicas da doença são distinguidas. A neurofibromatose tipo 1 (NF-1) é a mais freqüente. As lesões cutâneas, presentes na maioria dos casos, podem ser associadas a tumores em qualquer localização. Neurofibromas são característicos de NF-1. O objetivo desta comunicação é descrever uma complicação rara de NF-1 que representa um desafio terapêutico devido à topografia e freqüência de recidivas. Trata-se de uma menina de 3 anos com NF-1 com sintomas de mielopatia multisegmentar de instalação progressiva de dois meses de evolução. A imagem mostrou um tumor cérvico-dorsal com compressão da medula espinhal. A excisão do tumor permitiu confirmar neurofibroma intradural, extramedular. Os neurofibromes plexiformes são caracterizados pelo seu comportamento infiltrativo e sua disseminação paraspinal extensa. A ressecção dessas lesões geralmente gera morbidade associada ao envolvimento de estruturas críticas extra-espinhais e dificulta sua ressecção completa, como ocorreu no caso clínico apresentado. Destaca-se a importância de realizar um acompanhamento clínico e, eventualmente, de imagens de pacientes com NF-1 para detectar e tratar oportunamente os tumores, sua complicação mais importante.


Subject(s)
Humans , Female , Child, Preschool , Spinal Cord Neoplasms , Thoracic Vertebrae/pathology , Cervical Vertebrae/pathology , Neurofibromatosis 1/complications , Neurofibroma/surgery , Neurofibroma/diagnosis , Thoracic Vertebrae/surgery , Cervical Vertebrae/surgery , Neoplasm Recurrence, Local
12.
Arq. neuropsiquiatr ; 76(5): 287-295, May 2018. tab, graf
Article in English | LILACS | ID: biblio-950538

ABSTRACT

ABSTRACT Auditory processing deficits are common in people with neurofibromatosis type 1 (NF1) and they often report difficulties in musical performance. Objective: We investigated whether NF1 could be associated with amusia as well as with some impairment of primary auditory cortex activity. Methods: Eighteen people with NF1 and 22 healthy volunteers, matched for age, sex and educational level, were evaluated with the Montreal Battery Evaluation of Amusia - short version. The integrity of cortical primary auditory processing areas was evaluated by evoked potential mismatch negativity. Results: Amusia was correlated with NF1 (p = 0.001, odds ratio = 42.0, confidence interval 4.5-39.6). Patients with NF1 exhibited a greater prevalence of amusia than healthy controls (67% vs. 4.5%) and difficulties in both melodic and temporal music perception. Worse performance on the Montreal Battery Evaluation of Amusia was correlated with a greater mismatch negativity latency in NF1 group. Conclusions: Amusia is a common feature in NF1 and may result from impairment of activity in primary auditory processing areas.


RESUMO Déficits de processamento auditivo são comuns em pessoas com neurofibromatose tipo 1 (NF1), que também se queixam frequentemente de dificuldades no desempenho musical. Objetivos: Nós investigamos se a NF1 poderia estar associada à amusia, assim como a algum comprometimento da atividade do córtex auditivo primário. Métodos: Dezoito pessoas com NF1 e 22 controles sem a doença, pareados por idade, sexo e nível educacional, foram avaliados por meio da versão reduzida da Bateria de Avaliação de Amusia de Montreal (MBEA). A integridade das áreas corticais primárias do processamento auditivo foi avaliada através do potencial evocado auditivo mismacth negativity (MMN). Resultados: A amusia correlacionou-se com a NF1 (p = 0,001, odds ratio = 42,0, intervalo de confiança 4,5-39,6). Os pacientes com NF1 apresentaram maior prevalência de amusia do que os controles saudáveis (67% vs. 4,5%) e dificuldades na percepção musical, tanto melódica quanto temporal. O desempenho pior na MBEA foi correlacionado com maiores latências do MMN no grupo NF1. Conclusões: A amusia é uma característica comum na NF1 e pode resultar do comprometimento da atividade de áreas de processamento auditivo primário.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Young Adult , Auditory Perceptual Disorders/etiology , Neurofibromatosis 1/complications , Evoked Potentials, Auditory/physiology , Music , Auditory Perceptual Disorders/diagnosis , Auditory Perceptual Disorders/physiopathology , Case-Control Studies , Cross-Sectional Studies , Neurofibromatosis 1/physiopathology , Electrophysiological Phenomena , Neuropsychological Tests
13.
An. bras. dermatol ; 92(6): 870-873, Nov.-Dec. 2017. graf
Article in English | LILACS | ID: biblio-887126

ABSTRACT

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.


Subject(s)
Humans , Male , Child, Preschool , Neurofibromatosis 1/complications , Moyamoya Disease/complications , Tomography, X-Ray Computed , Neurofibromatosis 1/pathology , Neurofibromatosis 1/diagnostic imaging , Magnetic Resonance Angiography , Cafe-au-Lait Spots/pathology , Moyamoya Disease/pathology , Moyamoya Disease/diagnostic imaging
14.
Rev. Soc. Bras. Clín. Méd ; 14(1): 48-51, jan.-mar. 2016. ilus
Article in Portuguese | LILACS | ID: biblio-30

ABSTRACT

Paciente de 37 anos, portador de neurofibromatose tipo 1 que se apresentou com quadro de dor torácica típica. Exceto pelo sexo masculino, não apresentava outros fatores de risco pessoais ou familiares para doença arterial coronária. Com o eletrocardiograma de repouso normal e um ecocardiograma transtorácico mostrando apenas hipertrofia ventricular esquerda de grau discreto, realizou teste de esforço que foi fortemente positivo para doença arterial coronariana. Com esse resultado e considerando a baixa faixa etária e a escassez de fatores de risco, o paciente foi encaminhado para a ecocardiografia com estresse farmacológico, que deflagrou dor torácica típica e alterações segmentares da contratilidade com baixas doses de dobutamina. Encaminhado para a cineangiocoronografia, detectou-se lesão mulitvascular grave, com indicação para tratamento cirúrgico (revascularização do miocárdio). Questiona-se, após breve revisão da literatura, eventual associação entre a presença e gravidade da doença arterial coronariana e a neurofibromatose tipo 1.


Male patient, 37 years old, affected by neurofibromatosis type 1 who presented with typical chest pain. Except for being male, he had no other risk factors, personal or family history of coronary artery disease. With normal resting electrocardiography and a transthoracic echocardiogram showing mild left ventricular hypertrophy, we performed stress test, which was strongly positive for coronary artery disease. With this result and considering the young age and lack of risk factors, the patient was referred for pharmacologic stress echocardiography, which triggered typical chest pain and electrocardiographic changes with low doses of dobutamine. The patient was referred to cineangiocoronariography, which showed mulitvascular serious injury, with an indication for surgery (myocardial revascularization). After a brief literature review, we wonder if there is a possible association between the presence and severity of coronary artery disease and neurofibromatosis type 1.


Subject(s)
Humans , Male , Adult , Coronary Artery Disease/etiology , Neurofibromatosis 1/complications , Heart Defects, Congenital/physiopathology
15.
Rev. chil. neurocir ; 41(2): 141-144, nov. 2015. ilus
Article in Spanish | LILACS | ID: biblio-869738

ABSTRACT

El Gliosarcoma es un raro Glioblastoma que contiene tantos elementos gliales comparable con un Glioblastoma como componentes mesenquimal. Aproximadamente entre 2-8% de todos los Glioblastomas están asociados con elementos sarcomatosos. Clínica y genéticamente muy parecido a los Glioblastomas, excepto por la ausencia de amplificación del EGFR. El gliosarcoma es un tumor de alto grado de malignidad y pobre pronóstico, con alta tasa de recurrencia. Presentamos el caso de un paciente masculino de 54 años de edad con diagnóstico de gliosarcoma cerebeloso, asociado a Neurofibromatosis tipo I. La NF I es el síndrome hereditario más común que predispone a la neoplasia, es una enfermedad polifacética asociado no sólo a tumores benignos.


Gliosarcoma are rare glioblastomas that contain an anaplastic glial component comparable to a glioblastoma, as well as,a mesenchymal component, that have a biphasic pattern. Approximately 2-8% of all glioblastomas are associated with a sarcomatous element. Clinically and genetically close to glioblastomas, except for the absence of EGFR amplification. The Gliosarcoma is a high-grade tumor of malignity and poor prognosis, with high rate of recurrence. We present the case of a masculine patient of 54 elderly years, with diagnosis of Gliosarcoma Cerebellar associate to Neurofibromatosis type I. The NF I is the hereditary syndrome more common that predisposes to the tumor, it is a versatile disease that not only becomes a partner of benign tumors.


Subject(s)
Humans , Male , Middle Aged , Cerebellum/injuries , Gliosarcoma/surgery , Immunohistochemistry/methods , Neurofibromatosis 1/complications , Anaplasia , Astrocytoma , Intracranial Embolism , Brain Neoplasms/therapy , Neuroimaging/methods
16.
Arch. endocrinol. metab. (Online) ; 59(5): 460-466, Oct. 2015. tab, graf
Article in English | LILACS | ID: lil-764119

ABSTRACT

Primary hyperparathyroidism is a disease characterized by excessive production of parathyroid hormone (PTH), which is due to a parathyroid adenoma in 85% of cases. An atypical parathyroid adenoma, with some histopathological features of parathyroid carcinoma, may be found in some of the cases, although it may not fulfill all the criteria for this diagnosis. Neurofibromatosis type 1 (NF1) is an autosomal dominant systemic disease that may be associated with hyperparathyroidism. We report here the rare combination of a patient with NF1 and clinical manifestations of hyperparathyroidism due to an atypical parathyroid adenoma.


Subject(s)
Female , Humans , Middle Aged , Adenoma/pathology , Neurofibromatosis 1/diagnosis , Parathyroid Neoplasms/pathology , Adenoma/complications , Bone Diseases, Metabolic , Hyperparathyroidism, Primary/etiology , Neurofibromatosis 1/complications , Parathyroid Hormone/analysis , Parathyroid Neoplasms/complications
17.
Article in English | IMSEAR | ID: sea-159589

ABSTRACT

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.


Subject(s)
Humans , Male , Middle Aged , Neurofibroma/complications , Neurofibroma/diagnosis , Neurofibroma/diagnostic imaging , Neurofibromatosis 1/complications , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/diagnostic imaging , Oral Manifestations/diagnosis , Oral Manifestations/epidemiology , Oral Manifestations/etiology , Oral Manifestations/diagnostic imaging
18.
Arq. neuropsiquiatr ; 73(6): 531-543, 06/2015. tab, graf
Article in English | LILACS | ID: lil-748178

ABSTRACT

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.


Subject(s)
Humans , Neurilemmoma/therapy , Neurofibromatoses/therapy , Neurofibromatosis 1/therapy , /therapy , Skin Neoplasms/therapy , Disease Management , Neurilemmoma/complications , Neurilemmoma/pathology , Neurofibromatoses/complications , Neurofibromatoses/pathology , Neurofibromatosis 1/complications , Neurofibromatosis 1/pathology , /complications , /pathology , Optic Nerve Glioma/pathology , Optic Nerve Glioma/therapy , Risk Factors , Skin Neoplasms/complications , Skin Neoplasms/pathology
19.
Med. infant ; 22(2): 64-71, Junio 2015. tab
Article in Spanish | LILACS | ID: biblio-905787

ABSTRACT

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


Subject(s)
Humans , Infant , Child, Preschool , Child , Adolescent , Early Diagnosis , Evoked Potentials, Visual , Eye Manifestations , National Institutes of Health (U.S.)/statistics & numerical data , Neurofibromatosis 1/complications , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/diagnostic imaging , Patient Care Team , Signs and Symptoms , Prospective Studies
20.
Rev. ANACEM (Impresa) ; 9(1): 38-42, jun. 2015. ilus
Article in Spanish | LILACS | ID: biblio-998286

ABSTRACT

INTRODUCCIÓN: La combinación de embarazo y Neurofibromatosis tipo 1 (NF1) ha sido reportada con frecuencias de 1/2.500 a 1/18.500 partos. Patología con manifestaciones que van desde lesiones cutáneas, tumores o complicaciones ortopédicas. En la mujer esta enfermedad podría empeorar durante la gestación, debido a la cantidad de receptores esteroidales que tendrían los neurofibromas y la posibilidad de malignización de tumores del sistema nervioso central. PRESENTACIÓN DEL CASO: Mujer de 22 años, multípara de 1, con una perdida reproductiva a las 6 semanas de gestación, con antecedentes de NF1, un tumor cerebral tipo glioma temporal medial derecho y otro ubicado en nervio óptico izquierdo diagnosticados a los 17 años de edad, escoliosis lumbar operada a sus 13 años, controles con psiquiatra por discapacidad intelectual; además refiere que su madre y hermano presentan lesiones cutáneas compatibles con NF1, con total abandono de seguimiento hace 6 años. Inició sus controles con alto riesgo obstétrico al cursar la semana 22 de embarazo, se hospitalizó a las 37 semanas de gestación para mejorar la referencia y controles con especialistas. En el examen físico de ingreso destacó: escoliosis, estrabismo convergente de ojo derecho, lesiones hiperpigmentadas café con leche en dorso, extremidades inferiores, sin focalidad neurológica. Llegó a embarazo de término, realizándose parto vaginal a las 39semanas, con producto sexo femenino de 3360 gramos por 50 cm, adecuado para la edad gestacional, APGAR 9-10. DISCUSIÓN: Las pacientes embarazadas con NF1 contituyen un grupo de alto riesgo obstétrico, requieren de un equipo de trabajo multidisciplinario, consejería preconcepcional y de controles post parto


INTRODUCTION: The combination of pregnancy and Type 1 Neurofibromatosis (NF1) has been reported in rates of 1 in 2500 to 1 in 18500 deliveries. It's a disease with multiple manifestations such as skin damage, tumors or orthopedic complications. In women the disease may worsen during pregnancy, due to the amount of the neurofribromas' steroid receptors and the possibility of malignant transformation tumors of the central nervous system. CASE REPORT: 22 year old woman, with one previous satisfactory delivery, and a history of reproductive loss at 6 weeks gestation. She is diagnosed with NF1, showing a brain tumor, located in the right temporal medial side, glioma-type and other located in the left optic nerve diagnosed at 17 years of age, lumbar scoliosis operated at 13 years, psychiatrist controls with intellectual disabilities. Also, she relates that his mother and brother have skin lesions compatible with NF1, not keeping track six years ago. She began with high obstetrical risk unit controls at 22 weeks pregnant, then she was hospitalized at 37 weeks of gestation to improve reference and controls. In the physical first exam highlighted: scoliosis, convergent strabismus of the right eye, coffee with milk hyperpigmented lesions in the back, lower extremities without neurological deficit. She had a successful calving, performing vaginal delivery at 39 weeks, with a female of 3360 grams of weight and 50 cm height, appropriate for gestational age, APGAR 9-10. DISCUSSION: Pregnant patients with NF1 are a group of high-risk obstetrics, they require a multidisciplinary team of work, preconception counseling and birth controls after delivery


Subject(s)
Humans , Female , Pregnancy , Pregnancy Complications, Neoplastic/therapy , Neurofibromatosis 1/complications , Neurofibromatosis 1/therapy , Pregnancy Outcome , Pregnancy, High-Risk
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