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)

Neurofibromatose tipo 1 com acometimento do nervo infraorbital: relato de caso / Neurofibromatosis type 1 with infraorbital nerve involvement: a case report

A neurofibromatose tipo 1 é uma doença autossômica dominante rara, com manifestações clínicas diversas. Sua apresentação mais marcante é a presença de neurofibromas (tumores da bainha neural) cutâneos ou internos, que também podem ocorrer de forma esporádica, associados a outras manifestações sistêmicas, como manchas café com leite e lesões oculares. Por serem tumores da bainha de mielina, os neurofibromas podem acometer diversos nervos periféricos, incluindo nervos da face. Apresentamos o caso de um paciente de 1 ano, portador de neurofibromatose tipo 1, com neurofibroma em nervo infraorbital direito, com o acesso proposto para tratamento cirúrgico que fornecesse ampla visualização e acesso a lesão, sem comprometimento estético importante, permitindo preservação de partes moles e adequado crescimento facial.

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease with multiple clinical manifestations. Its most significant presentation is cutaneous or subcutaneous neurofibromas (myelin sheath tumors), which may be associated with other systemic manifestations such as caféau- lait spots and eye involvement. Neurofibromas can affect several peripheral nerves, including the facial nerves. This report presents a case of a 1-year-old patient with NF1 with right infraorbital nerve neurofibroma in which the proposed access for surgical treatment allowed adequate visualization of the tumor with good aesthetic results, preservation of the soft tissues, and normal facial growth.

A pessoa com o diagnóstico de uma condição genética como informante-chave do campo das doenças raras - uma perspectiva pela sociologia do diagnóstico / The individual with the diagnosis of a genetic condition as a key informant in the field of rare diseases - a perspective from the sociology of diagnosis

Resumo Em um panorama diferente da maioria dos trabalhos do campo das chamadas doenças raras, esse artigo transpõe os limites das associações para chegar até as pessoas que vivem com o diagnóstico de uma condição genética e entendida como doença rara, a Neurofibromatose (NF). Nesse trajeto, utiliza-se da ainda nascente Sociologia do Diagnóstico para identificar tanto o impacto quanto as consequências do diagnóstico na vida das pessoas. Como resultado entende-se que devemos superar o olhar caritativo sobre as pessoas que vivenciam o diagnóstico de uma condição genética, o doente, para, como um informante-chave, captar as contribuições para melhorar os serviços de saúde e as nossas relações sociais.

Abstract Adopting a different viewpoint from most of the work in the field of so-called rare diseases, this paper crosses the boundaries of the associations to reach people living with the diagnosis of a genetic condition, which is understood as being a rare disease, namely neurofibromatosis (NF). In this respect, the incipient Sociology of Diagnosis is utilized to identify both the impact and the consequences of the diagnosis in people's lives. As a result, the consensus is that it is necessary to transcend the charitable outlook on people who experience the diagnosis of a genetic condition, by perceiving the patient as a key informant in order to collect input to improve health services and our social relations.

Extracranial neurogenic tumors of the head and neck, / Tumores neurogênicos extracranianos na cabeça e pescoço

ABSTRACT INTRODUCTION: Peripheric nerve tumors typically derive from Schwann cells of the peripheral nerve sheet. Since these tumors are uncommon, they should be considered in preoperative differential diagnosis. OBJECTIVE: To report the experience of a tertiary care department. METHODS: Forty-two patients with head and neck peripheral neurogenic tumors were retrospectively analyzed and evaluated from 1977 to 2013. The preoperative diagnosis was confirmed by biopsy or imaging study. RESULTS: The mean age was 41.7 and 15 patients (36%) were male. The mean size was 5.5 cm and 26 (61%) were located laterally in the neck. Most tumors (39.9%) presented as an asymptomatic neck mass. Most (39.9%) were resected through a neck approach. Cranial nerves were the commonest site of origin. CONCLUSIONS: Extracranial neurogenic tumors presented with a mean size of 5.5 cm, were located laterally in the neck, normally had their origin from cranial nerves, and their resection approach is cervical.

Resumo INTRODUÇÃO: Tumores dos nervos periféricos tipicamente derivam das células de Schwann da bainha dos nervos periféricos. Por serem incomuns, devem ser lembrados no diagnóstico diferencial pré-operatório. OBJETIVO: Relatar a experiência de serviço de referencia terciária. MÉTODO: De 1977 a 2013, 42 pacientes com tumores neurogênicos periféricos da cabeça e pescoço foram operados e analisados retrospectivamente. A confirmação diagnóstica pré-operatória deu-se por biópsia ou método de imagem. RESULTADOS: A média da idade foi de 41,7 anos, sendo 15 indivíduos (36%) do gênero masculino. O tamanho médio foi de 5,5 cm e 26 (61%) localizavam-se na face lateral do pescoço. A maior parte (39,9%) apresentou-se como tumor palpável assintomático. A maioria (39,9%) foi ressecadapor acesso cervical. A maioria originou-se de nervos cranianos. CONCLUSÕES: Tumores neurogênicos extracranianos apresentam-se com tamanho médio de 5,5 cm, na face lateral do pescoço, costumam originar-se de nervos cranianos e ser ressecados por via cervical.

Optic Nerve Glioma with Unilateral Proptosis: An Interesting Case Report.

Optic nerve is most important cranial nerve responsible for visual functioning. Optic nerve involvement leading to blindness can be seen in various diseases, which cause swelling, inflammation, ischemia of the optic nerve. The optic nerve glioma (ONG) comprises 5% of all pediatric intracranial tumor and are a leading cause of unilateral proptosis. ONGs can be associated with neurofibromatosis and are more common than meningiomas. 20-30% of ONGs become symptomatic before the age of 10 years. Visual evoked potential testing is helpful in detecting asymptomatic gliomas. Early detection and prompt management can prevent blindness from gliomas. Treatment of ONG should be tailored to the individual patient. Our patient also showed the presence of unilateral ONG with proptosis. Magnetic resonance imaging was diagnostic. Partial optic atrophy was also present.

Clinical and Therapeutic Features of Neurofibromatosis in Ghana

Introduction. Neurofibromatosis (NF) is a generalized form of benign tumors of the peripheral nerves involving the skin; subcutaneous tissue; and bone. It comprises neurofibromatosis type 1 (NF-1); neurofibromatosis type 2 (NF-2); and schwannomatosis. Objective. To document the clinical and epidemiological features of patients with NF presenting at Komfo Anokye Teaching Hospital (KATH) in Kumasi; Ghana; from January 2009 to December 2013; and the outcome of management. Patients and methods. This is a retrospective study. Data on all patients managed within the study period were retrieved from the records of the surgical outpatient department (SOPD) of KATH and theater records and analyzed. Results. Fifteen patients underwent surgery for function impairing and disfiguring lesions; comprising five males and 10 females. Their ages ranged from three years to 55 years; with a mean age of 27.3 years. Seventeen lesions were found on the 15 patients that required surgery: 10 on the head and neck; three on the trunk; two on the upper limbs; and two on the lower limbs. Three of the lesions were neurofibromas; 14 were plexiform lesions. Fourteen patients had NF-1; only one patient had NF-2; there were no cases of schwannomatosis. Debulking was done for 12 patients; this was combined with suspension in two cases and enucleation in one case. Excision was done for five patients. Eight of the lesions recurred and the patients underwent a second debulking procedure. Conclusion. NF causes disfigurement and functional deficits in affected patients. Surgery can achieve symptomatic relief. Early presentation is recommended for optimal results

Neurofibroma arising from phrenic nerve.

We report a case of neurofibroma arising from the left phrenic nerve and not associated with neurofibromatosis in a 46-year-old male. The patient presented with gradually progressive breathlessness and pain in chest for six months. Radiological investigations revealed a posterior mediastinal mass on the left side of the chest. On postero-lateral thoracotomy, the resected tumour was found to be arising from the phrenic nerve. Histopathological examination confirmed it to be a neurofibroma. Absence of any other distinctive lesions of neurofibromatosis makes this an unusual presentation.

Neurofibromatose tipo I com manifestação parafaríngea na infância / Neurofibomatosis type 1 with parapharyngeal manifestation in childhood

Objetivos: apresentar um caso raro de comprometimento parafaríngeo em uma criança com neurofibromatose tipo I.Descrição do caso: uma menina de um ano e quatro meses foi trazida ao consultório de otorrinolaringologia no Hospital São Lucas da PUCRS por aumento de volume em região parotídea esquerda, observado há aproximadamente 30 dias. Ao exame apresentava bom estado geral e na inspeção observou-se tumoração em região parotídea à esquerda, com pouca mobilidade. Uma tomografia computadorizada com contraste revelou tumoração extensa, com aparência sólida, desvio da artéria carótida interna para linha média com envolvimento da glândula parótida e extensão para o espaço parafaríngeo. A biópsia excisional transoperatória revelou neoplasia benigna de tecido neural e o resultado anatomopatológico mostrou neuroma plexiforme. Revisando-se o exame físico foram observadas três máculas hiperpigmentadas (manchas café com leite) em região abdominal, apontado para o diagnóstico clínico de neurofibromatose tipo I, ou doença de Von Recklinghausen.Conclusões: o neurofibroma do espaço parafaríngeo é uma complicação rara de neurofibromatose tipo I, ocorrendo em menos de 5% das neoplasias de espaço parafaríngeo. Com este relato de caso mostra-se a importância da correlação clínica para o diagnóstico de uma doença rara, especialmente na faixa etária pediátrica.

Aims: To present a rare case of parapharyngeal involvement in a child with neurofibromatosis type I.Case description: a girl one year and four months old was brought to the clinic of otolaryngology at the Hospital São Lucas da PUCRS because of a swelling in the left parotid region, observed for approximately 30 days. On examination she appeared healthy, and the inspection showed a tumor on the left parotid region, with little mobility. A computed tomography scan with contrast revealed extensive tumor with solid appearance, internal carotid artery bypass to the midline with involvement of the parotid gland and extension into the parapharyngeal space. Excisional biopsy examination with trans-operative freezing revealed a benign neoplasm of neural tissue and the pathological result showed plexiform neuroma. Reviewing the physical examination, three hyperpigmented macules (café au lait spots) were observed in the abdominal region, pointing to the clinical diagnosis of neurofibromatosis type I, or Von Recklinghausen?s disease.Conclusions: Neurofibroma of the parapharyngeal space is a rare complication of neurofibromatosis type I, occurring in less than 5% of tumors of the parapharyngeal space. This case report showed the importance of clinical correlation for diagnosis of a rare disease, especially in pediatric patients.

Síndromes neurocutáneos en la consulta neurológica: serie de casos / Neurocutaneous syndromes in the neurological consultation: case series

Los síndromes neurocutáneos son trastornos genéticos que afectan simultáneamente a la piel, sus anexos y al sistema nervioso. Mediante un esfuerzo colaborativo, se incluyó a pacientes con síndrome neurocutáneo vistos consecutivamente en clínicas tanto del Hospital Escuela como en dos clínicas privadas de Tegucigalpa del 2000 al 2007. Se realizó examen clínico/neurológico/dermatológico, árbol genealógico, exámenes de gabinete y biopsia de lesiones no bien definidas clínicamente o sospechosas de malignidad. Se clasificaron los casos deacuerdo a los criterios de las sociedades internacionales de dermatología. Se identificaron 37 casos, 64% del sexo femenino, 65% menores de 30 años. El síndrome más frecuente en el grupo fue la neurofibromatosis tipo I (44%), la Esclerosis Tuberosa (17%) y el síndrome de Sturge Weber (14%). Las principales consecuencias neurológicas fueron cefalea (22%), epilepsia (22%), déficit motor (13%) y retraso psicomotor (19%). La frecuencia y perfil de los SN encontrados fue similar a lo reportado en la literatura...

Neurofibromatose: uma desordem hereditária: relato de caso de ocorrência em mãe e filha / Neurofibromatosis: a hereditary disorder: a case of neurofibromatosis occurring in mother and daughter

A neurofibromatose é uma desordem genética caracterizada pelo aparecimento de neoplasias benignas que acompanham o trajeto do nervo envolvido, alterações cutâneas e, em alguns casos mais raros, lesões gastrintestinais e alterações no sistema nervoso central, com conseqüente retardo mental. Não existe cura para essa desordem, mas existe uma grande quantidade de tratamentos alternativos, como a remoção cirúrgica dos neurofibromas, ou a remoção das manchas café-com-leite com laser. O objetivo deste trabalho é realizar uma revisão de literatura e apresentar um caso de Neurofibromatose com ocorrência em mãe e filha.

Neurofibromatose – relato de caso / Neurofibromatosis – case report

A neurofibromatose é uma doença autossômica dominante com um defeito básico nas células da crista neural. Embora existam muitas teorias com respeito à causa da neurofibromatose, a etiologia permanece desconhecida.É caracterizada pela presença de tumores cutâneos e subcutâneos, tumores de nervos e manchas “café com leite”. O diagnóstico é clínico devido ao padrão característico de acometimento cutâneo. A possibilidade de malignização dos neurofibromas em pacientes com NF é motivo de constante preocupação. Nosso objetivo é fazer uma breve revisão de neurofibromatose e descrevermos nosso caso clínico.

Neurofibromatosis is an autosomal dominant disorder that primarily affects the neural crest cells. Although there are many theories regarding the cause of neurofibromatosis, the etiology is still unknown. It is characterised by the presence of on and under skin tumours, nerve tumours and café-au-lait spots. The diagnostic is clinical due to the standard feature of skin involvement.The possibility of the neurofibromas to become malignant in patients with NF is cause for considerable concern. Our aim is to conduct a short review of neurofibromatosis and to describe our clinical case.

Aneurisma da artéria vertebral extracraniana em puérpera portadora de neurofibromatose clássica / Extracranial vertebral artery aneurysm during the puerperium in women with neurofibromatosis type 1

Paciente de 26 anos, no 10° dia de puerpério, apresentou dor súbita em região cervical esquerda irradiada para região supraclavicular do mesmo lado, seguida de aparecimento de massa pulsátil. Relatava hipertensão sistólica média de 160 mmHg, e diastólica média de 130 mmHg na gravidez e neurofibromatose. Ao exame físico, apresentava massa pulsátil em região supraclavicular esquerda, sem frêmitos e/ou sopros. Um alargamento do mediastino foi detectado através de raio-x de tórax. Uma tomografia computadorizada (região cervical e torácica) evidenciou tumoração em território de artéria subclávia esquerda na sua porção proximal, sem limites definidos pelo extravasamento de contraste, além de hemotórax gigante à esquerda. A paciente evoluiu com choque hipovolêmico, sendo submetida à cirurgia de urgência, com toracotomia seguida de cervicotomia, onde se evidenciou lesão aneurismática rota da artéria vertebral esquerda logo após sua emergência. Após controle do sangramento, procedeu-se à sua ligadura. A paciente evoluiu satisfatoriamente, estando em acompanhamento ambulatorial.

A 26-year-old patient, on the 10th day of the puerperium, presented sudden pain in the left cervical region irradiated to the supraclavicular region on the same side, followed by the presence of a pulsatile mass. She reported a mean systolic hypertension of 160 mmHg, and mean diastolic hypertension of 130 mmHg in pregnancy and neurofibromatosis. At physical examination, she presented a pulsatile mass in the left supraclavicular region, without thrill and/or murmur. A widening of the mediastinum was detected by a thoracic X-ray. A computed tomography (cervical and thoracic region) showed a pulsatile mass in the territory of the left subclavian artery in its proximal portion, without having limits defined by contrast extravasation, besides a giant hemothorax on the left. The patient evolved with hypovolemic shock and was submitted to an urgent surgery, undergoing thoracotomy followed by cervicotomy, in which a ruptured aneurysmal lesion of the left vertebral artery was shown right after its emergency. After controlling the bleeding, a ligation was performed. The patient progressed satisfactorily, having an outpatient follow-up.

Achados de neuroimagem em pacientes com neurofibromatose tipos 1 e 2 / Neuroradiologic findings in patients with neurofibromatosis type 1 and 2

Descrevemos os achados de neuroimagem, particularmente através da ressonância magnética de crânio em pacientes com neurofibromatose tipos 1 e 2. Estas facomatoses são desordens complexas com uma variedade de manifestações clínicas e radiológicas. Este artigo resume os achados neurorradiológicos em nossos pacientes

Neurofibromatose (Doença de Von Recklinghausen) relato de caso / Neurofibromatosis (Von Recklinghausen Illness) case report

A neurofibromatose I é a forma clássica da doença, descrita em 1882, por von Recklinghausen, transmitida por herança autossômica dominante. Caracteriza-se pela presença de manchas café-com-leite, nódulos fibromatosos (neurofibromas), nódulos de Lisch na íris e efélides axilares. S.T.N.C, 30 anos, feminina, procurou o serviço de Cirurgia Plástica do Hospital de Clinicas com deformidade crânio-facial centrada em órbita direita, que evoluiu com aumento progressivo da área comprometida associada a amaurose. Ao exame, observou-se importante deformidade hemicraniofacial direita, com lesão neurofibromatosa comprometendo as regiões da fossa temporal superficial, frontal, órbito-palpebral, jugal, labial e mandibular com aspecto de gota gigante multilobulada, tracionando e deformando todas as estruturas da face. Apresentava, ainda, macroqueilia, mordida aberta, ausência de ramo ascendente mandibular direito e paralisia facial direita. Diversas lesões nodulares café-com-leite disseminadas pela superfície cutânea foram encontradas. Os exames complementares realizados, radiografia de face e crânio, tomografia computadorizada e ressonância magnética crânio-facial, demonstraram continuidade da lesão com o tecido cerebral e grande número de fístulas artério-venosa volumosas, denotando associação com deformidade vascular grave. De acordo com estes resultados, foi decidido não submeter a paciente a tratamento cirúrgico, devido ao potencial risco de óbito, bem como a pouca melhora estético funcional a se conseguir com a operação.

In 1882, Von Recklinghausen described neurofibromatosis type I, an autossomal dominant inherited disease, with clinical features of “cafe-au-lait” spots neurofibromas, freckling in the axillary or inguinal regions, optic glioma, Lisch nodules in iris and distinctive osseous lesions. STNC, a 30 year old female, was attended by Plastic Surgery staff at the “Hospital de Clínicas da Universidade Federal do Paraná - Brazil with a craniofacial deformity centred at the right orbit, with progressive regional increase in size and with impaired of visual acuity. Physical findings: prominent hemicraniofacial deformity due to a neurofibroma involving superficial temporal fossa, frontal, orbital, la- bial, jugal and mandibular regions with the aspect of multilobuleted giant drop, tractioning and deforming all the structure of her face. Macrocheilia, mandibular teeth didn’t touch maxillary teeth, absence of ascendant mandibular ramus, right facial palsy and “cafe-au-lait” spots were documented. Image Findings: facial and cranial x-rays, CT and MRI showed that the lesion compromised in continuity with cerebral tissue and the presence of huge arteriovenous fistulas. Management: Due to high risk of death during and/or after the surgery, the patient received clinical and psychological treatment and orientation.

Neurofibromatosis: a diagnostic mimicker on CT in a known case of malignancy.

A known case of early carcinoma cervix was found to have mediastinal widening on chest radiograph and hypoechoic oval retroperitoneal lesions on USG abdomen. CECT chest and abdomen showed these to be non enhancing lymph node like round to oval discrete mass lesions in mediastinum, abdomen and pelvis. With no other suggestion of carcinoma spread, local or distant and uncommon incidence of extensive lymphadenopathy in a early carcinoma cervix, biopsy from one of the representative lesion was performed which revealed it to be benign neurofibroma. Differentiation of these strategically located benign nerve sheath tumors from lymphadenopathy can sometimes be challenging on CT scan and in a known case of malignancy or with history of surgery for malignant neoplasm it may cause concern for disease spread or local tumor recurrence. Associated imaging and clinical features can sometimes be helpful in reaching the correct diagnosis.