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Introduction: malignant tumors including soft tissue sarcomas can occur during neurofibromatosis type 1. We report a case of sarcomatous degeneration of a plexiform neurofibroma with multivisceral metastases in a Togolese patient with neurofibromatosis type 1. Observation: A 33-year-old female patient with neurofribromatosis type 1 presented with an altered general condition, pain and changes in the appearance of the plexiform tumour of her neurofibromatosis, which had been evolving for one month. Physical examination revealed multiple coffee-white spots (greater than 10), with tumours of soft consistency and variable size, scattered over the body. There was also a larger tumour (approx. 9cmx6 cm), located on the inside of the left ankle, fixed, firm and painful to palpation. The abdomen was enlarged and tender, with no tenderness or contracture. Examination of lymph nodes was normal. Anatomopathological examination of the biopsy-exeresis of this tumour revealed a proliferation of clusters of small, rounded, undifferentiated cells with reduced cytoplasm and hyperchromatic nuclei, with clear anisokaryosis and numerous atypical mitotic figures. There were also a few vascular emboli. We therefore concluded that this plexiform neurofibroma was malignant, and the extension work-up revealed pulmonary, pancreatic and adrenal metastases. The patient died 3 weeks after diagnosis in respiratory distress. Conclusion: Malignant degeneration of plexiform neurofibromas is possible in patients with neurofibromatosis type 1. It is therefore important to monitor these patients for early detection in order to limit the risk of metastasis and death. [ABSTRACT FROM AUTHOR]

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Neurofibromatosis is an autosomal dominant disorder characterized by tumors of the nervous system and skin. Plexiform neurofibromas are common complications of neurofibromatosis type 1 and can cause large facial deformities. Vascular anomalies are in turn a rare manifestation of neurofibromatosis. We present the case of a 48-year-old female patient with right hemifacial neurofibromatosis associated with venous vascular malformation, previously treated surgically and then with sclerosing agents, determining severe residual facial deformity. Her surgical approach using a modified facelift technique associated with partial tumor debulking and lipofilling seems to be a valid technical alternative for these highly complex cases that require a customized approach after exhaustive preoperative evaluation. [ABSTRACT FROM AUTHOR]

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Este artigo é um relato de experiência de caso clínico de intervenção psicopedagógica por mediação lúdica com criança acometida de neurofibromatose tipo 1. Seu objetivo é relatar um excerto do caso, em que foi usada a intervenção psicopedagógica por mediação lúdica na estimulação e organização das funções psíquicas superiores do sujeito deste estudo, com foco especial em controle de comportamentos, planejamento das ações e função simbólica, a fim de promover seu desenvolvimento psíquico e ampliar sua capacidade de aprendizagem. O estudo usa metodologia qualitativa e parte do pressuposto vigotskiano da pesquisa como processo, que, ao mesmo tempo em que pesquisa, promove mudanças na realidade pesquisada. A metodologia usada nas intervenções foi a abordagem psicopedagógica por mediação lúdica de base conceitual na Teoria Histórico-Cultural do desenvolvimento psíquico humano. Como resultados, observamos o desenvolvimento do menino, que, ao final de dois meses de intervenções, estava mais organizado, controlando as suas ações dentro dos contextos propostos e iniciando o brincar de forma simbólica.

Objective: To describe the case of a 21-year-old female with previously diagnosed neurofibromatosis type 1 (NF-1) with neck, scapular, lumbar, and temporomandibular discomfort along with headaches. Clinical features: The patient had chronic tightness and pain in the cervicothoracic region as well as pain in the lumbar spine at the site of prior neurofibroma removal. Radiographs demonstrated multilevel osseous changes. In addition to NF-1, she was diagnosed with cervical myalgia, tension-type headaches, and chronic temporomandibular joint disorder. Intervention and outcomes: Treatment consisted of a course of manual therapy including cervical flexion-distraction, myofascial release, patient education on workplace ergonomics, and an at-home active care plan. The patient experienced a reduction in pain and headache frequency. Manual therapy in the form of cervical flexion-distraction with myofascial release and education on workplace ergonomics were effective in reducing neck and thoracic pain as well as reducing headache frequency in a 21-year-old with NF-1. [ABSTRACT FROM AUTHOR]

Lentigines sont des macules hyperpigmentées, de petite taille (1 à 3mm), qui se distinguent des éphélides: par leur teinte plus foncée (brune ou noire) et par leur absence de modification après exposition solaire. Généralement régionales, elles peuvent se répartir sur toute la surface du tégument et/ou sur les muqueuses. Elles peuvent apparaître dans l'enfance ou plus tardivement au cours de la vie. Ces lentigines apparaissent parfois très rapidement sur un mode éruptif. Les lentigines correspondent à une hypermélanocytose épidermique, avec présence occasionnelle de grains de mélanine géants, dénommés macromélanosomes. Les lentigines sont souvent isolées. Parfois, elles s'intègrent dans des syndromes complexes, à expression multiviscérale, et représentent de ce fait des marqueurs ectodermiques utiles, permettant d'évoquer le diagnostic de ces affections. Ces différentes affections sont la lentiginose centrofaciale neurodysraphique de Touraine, la lentiginose périorificielle de Peutz-Jeghers-Touraine, la lentiginose multiple (syndrome LEOPARD), le Complexe de Carney et le Xeroderma pigmentosum. Nous rapportons l'observation d'un jeune de 30 ans sans antécédents pathologiques notables qui présente des lentigines axillaires. L'examen clinique trouvait des neurofibromes sous cutanés et cutanés et de multiples tâches café au lait ce qui a permis de retenir le diagnostic de neurofibromatose.

Peripheral Nerve Sheath Malignant Tumor is an extremely rare sarcoma,aggressive and of spontaneous origin or linked to neurofibromatosis type 1, from any nerve sheath cell in peripheral or cranial nerves. Its growth is accelerate and commonly infiltrates adjacent tissues and evolves with metastases. Patients affected by this tumor have low survival, approximately 21% in cases linked to neurofibromatosis and 42% in sporadic cases. Immunohistochemistry is great relevance for its diagnosis, presenting proteins S-100 or leu-7. [ABSTRACT FROM AUTHOR]

Le neurofibrome plexiforme est une tumeur bénigne rare des nerfs périphériques aux dépens des cellules conjonctives du périnevre. Il est pathognomonique de la neurofibromatose de type 1 (NF1 ou maladie de Von Recklinghausen). L'IRM est d'une grande aide au diagnostic de cette pathologie. La confirmation anatomopathologique est parfois nécessaire en particulier en dehors d'un contexte évocateur d'une NF1. Nousrapportonsl'observation d'une petite fille atteinte de neurofibrome plexiforme cervical révélateur d'une neurofibromatose Type 1.

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.

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O hemotórax espontâneo é uma complicação rara e potencialmente fatal da neurofibromatose. Vários mecanismos patológicos são descritos para a vasculopatia associada à doença: a) invasão dos vasos por tumores adjacentes, como shwannoma, neurofibroma ou neurofibrosarcoma; b) displasia vascular com formação de aneurismas e estenoses6,7,9. Outros mecanismos envolvidos podem incluir patologias pleuropulmonares (infecções com necrose, embolia pulmonar, endometriose, neoplasias) e discrasia sanguínea. Os autores relatam o caso de uma jovem de 33 anos, que recorreu ao serviço de urgência por toracalgia superior direita, contínua, irradiando para o ombro e escápula homolaterais, sem factores de agravamento nem de alívio e com oito dias de evolução.Spontaneous hemothorax is a rare and potentially lethal neurofibromatosis’ complication. Several pathological mechanisms may explain the associated vasculopathy: a) direct vascular invasion from adjacent tumors such as Shwannoma, neurofibroma or neurofibrosarcoma; b) vascular dysplasia with stenotic or aneurysm formation6,7,9. Other mechanisms involved may include pleuropulmonar pathologies (necrotizing infections, pulmonary embolism, endometriosis, neoplasms) and blood dyscrasias. The authors describe a case of a 33 years old female, who went to the ER Service complaining with right persistent hemithora cic pain, extending to the ipsilateral shoulder and shoulder blade, without aggravation or relieving factors, since the last 8 days.

INTRODUÇÃO: Tem sido descrito na literatura incidência aumentada de tumores estromais gastrointestinais (GISTs) em portadores de neurofibromatose tipo 1. Estes tumores tipicamente ocorrem no intestino delgado e, frequentemente, são múltiplos. RELATO DO CASO: Diagnóstico incidental de GIST em um paciente portador de neurofibromatose tipo 1 com abdome agudo. No trans-operatório foi identificada apendicite retrocecal perfurada e massa neoplásica no jejuno proximal. A referida lesão ocupava aproximadamente 70% da circunferência do órgão e não apresentava invasão de estruturas adjacentes. Além disso, observaram-se dezenas de pequenos nódulos disseminados por toda a extensão do jejuno e íleo. O anatomopatológico revelou neoplasia compatível com GIST, com grau moderado de atipias, baixo índice mitótico (BACKGROUND: The literature described an increased incidence of gastrointestinal stromal tumors (GISTs) in patients with neurofibromatosis type 1. These tumors typically occur in the small intestine, and frequently are multiple. Often the behavior of the tumor in this association is more favorable than in sporadic cases. CASE REPORT: Incidental diagnosis of GIST was done in a patient with neurofibromatosis type 1 during treatment for acute abdomen. Trans-operatively was identified a retrocecal perforated appendicitis and a neoplastic mass in the proximal jejunum. The lesion occupied approximately 70% of the circumference of the organ and had no invasion of adjacent structures. Moreover, there were dozens of small nodules scattered throughout the length of the jejunum and ileum. The pathology revealed malignancy consistent with GIST, with moderate degree of atypia, low mitotic index (

Este artigo relata o caso de uma criança do sexo feminino, de nove anos de idade, com história de proptose e baixa acuidade visual progressiva. Ao exame oftalmológico apresentava: acuidade visual com a melhor correção 20/20 em olho direito e percepção de luz à esquerda; biomicroscopia sem alterações nos dois olhos; com hipofunção dos músculos reto superior esquerdo e oblíquo inferior esquerdo; exotropia e hipotropia esquerda; fundoscopia à direita normal e edema de papila à esquerda. Á Tomografia Computadorizada, apresentou tumor hiperdenso, fusiforme, em trajeto do nervo óptico, sugestivo de gliose do nervo óptico.Ao exame físico constataram-se manchas " café-com-leite" em região torácica e axilar e sardas axilares, preenchendo critérios para Neurofibromatose do tipo I (doença de Von Recklinghausen).This article reports a case of a female child, nine-years old, with a history of proptosis and progressive decrease of visual acuity. At ophthalmologic exam presented: best corrected visual acuity 20/20 on the right eye and light perception on the left eye; biomicroscopic exam was normal, weakness of left superior rectus and left inferior oblique muscle, exotropia and hypotropia to the left. At indirect ophthalmoscopy exam, fundus was normal on the right eye and had left optic disc with edema. computerized tomography showed a hiperdense tumor, fusiform shape in the optic pathway, suggesting optic nerve glioma. At physical exam, it was verified " café-au-lait" spots in the thorax and armpits and axillary freckles in the region, filling criteria to neurofibromatosis type I ( Von Recklinghausen´s disease).

Relatamos a associação de dois casos distintos de neuromesoectodermose ocorridos em uma mesma família, um manifestado através da neurofibromatose tipo 1 e outro através da esclerose tuberosa. O encontro de dois distúrbios entre primos de primeiro grau, ocasionados por diferentes mutações genéticas e transmitidos por herança autossômica dominante, sugere uma possível correlação entre eles. Também são descritas as manifestações clínicas, suas conseqüências e os critérios diagnósticos das duas doenças, visando ressaltar a importância do diagnóstico precoce.We relate the association of two distinct cases of neuromesoectodermosis occurred in a family, one manifested as neurofibromatosis type 1 and the other as tuberous sclerosis. The two anomalies at cousins, caused by different genetic mutations and transmitted by autosomal dominant inheritance, suggest a possible relation between them. Also, clinical manifestations are described, their consequences and the diagnostic criteria of both illnesses, emphatizing the importance of the precocious diagnosis.

Paciente de 26 anos, no 10º 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.

Les méningiomes intracrâniennes multiples sont définies comme la présence d'au moins deux méningiomes sur des sites intracrâniens différents et ceci en absence de neurofibromatose. C'est une tumeur rare dont la prévalence varie entre 1-10%. Le but de notre travail est décrire les caractéristiques cliniques, radiologiques, histologiques d'une série de 4 patients porteurs de méningiome multiple et en déduire les facteurs de risques de survenue de cette pathologie. Préciser la qualité d'exérèse chirurgicale de la lésion selon la classification de Simpson. Rapporter les suites postopératoires ainsi que le suivie à long termes des patients afin de préciser leur qualité de vie. Il s'agit d'une étude rétrospective portant sur 174 cas de Méningiome intracrânien opéré au CHU Avicenne entre Janvier 2000 à Décembre 2013. En s'aidant des données cliniques, imageries, chirurgicales, histologiques mentionnée dans le dossier médical de chaque patient. Notre série est constitué de 4 patients (3 femmes pour 1 homme), d'un âge allant de 42-50 ans (moyenne d'âge= 45,5 ans). Nous avons identifié 21 méningiomes (17 en sus tentoriel et 4 en sous tentoriel), aucun cas de décès ni d'infection postopératoire dans notre échantillon. Le pronostic reste bon malgré le nombre de lésion nécessitant parfois plusieurs interventions chirurgicales.

La neurofibromatose 1 (NF1) ou maladie de Von Recklinghausen est une maladie génétique fréquente. C'est une affection autosomique dominante qui se caractérise par une expression clinique variable au sein d'une même famille. Les sept critères diagnostiques cardinaux sont : l'atteinte d'un apparenté premier degré ; au moins six taches café au lait ; des lentigines axillaires ou inguinales ; au moins deux neurofibromes ; un gliome des voies optiques ; au moins deux nodules de Lisch et une atteinte osseuse caractéristique. Le diagnostic positif est posé si deux critères sont présents. Les complications de la NF1 sont peu fréquentes mais graves. Elles se présentent sous forme de neurofibromes plexiformes, de gliomes intracérébraux, de tumeurs des gaines nerveuses, d'anomalies vasculaires et de dysplasies osseuses. Un suivi régulier et à vie est nécessaire pour les détecter. Nous rapportons le cas d'un jeune homme de 38 ans, sans antécédent familial particulier, qui présente une NF1 sévère avec une hémiparésie faciale droite. Un scanner cérébro-thoraco-abdomino-pelvien en coupes fines était réalisé qui a objectivé un énorme gliome du tronc cérébral. Le patient est décédé avant tout acte chirurgical.

La neurofibromatose de type 1 ou maladie de Von Recklinghausen est une maladie génétique autosomique dominante en rapport avec des mutations dans le gène suppresseur de tumeur NF1. L'atteinte uro-génitale au cours de cette maladie est rare et moins de 80 cas ont été rapporté à ce jour dans la littérature mondiale. Les auteurs rapportent un nouveau cas d'atteinte vésicale découverte fortuitement au cours du suivi d'une patiente atteinte de la maladie de Von Recklinghausen . A travers cette observation et une revue de la littérature les auteurs discutent également les difficultés diagnostiques ,thérapeutiques ainsi que les modalités de suivi dans cette maladie.

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Résumé Nous rapportons le cas d’une patiente de 55 ans atteinte d’une neurofibromatose de type I ou maladie de Recklinghausen. Elle présentait un schwannosarcome du nerf médian, de haut grade de malignité, à l’union des tiers supérieur et moyen du bras, au contact de l’humérus. Le traitement carcinologique de cette tumeur imposait une amputation du bras au niveau du col chirurgical de l’humérus, et donc une désarticulation d’épaule. Dans le but d’améliorer la fonction résiduelle du membre supérieur, et afin de créer une pince latéro-thoracique, nous avons décidé de réaliser un lambeau libre total d’avant-bras banque. Ce lambeau composite a été composé du radius, de la totalité des muscles de l’avant-bras, ainsi que de la peau de la face antérieure de l’avant-bras, prélevée avec le pédicule radial proximal. Il a été anastomosé en proximal à l’artère axillaire après ostéosynthèse huméro-radiale par plaque. Le lambeau a permis à cette patiente active d’obtenir un moignon fonctionnel, rétablissant la fonction du bras et permettant une action de pince. Summary We report the case of a 55-year-old woman suffering from a type I neurofibromatosis (also known as Von Recklinghausen neurofibromatosis) who was diagnosed with a high-grade schwannosarcoma of the median nerve, between the upper third and the medium third of the arm, upon contact with the humerus, invading the humeral vessels. The oncologic treatment of this tumour consisted in the amputation of the arm through the surgical neck of the humerus. In order to create a laterothoracic claw, to bring a partial function of the upper limb back, we decided to realize a free fillet forearm flap. This composite flap was composed of the radius and the ulna, all the forearm muscles and the skin of the anterior side of the forearm. A humeroradial plate osteosynthesis was done and the flap was then harvested with the radial pedicle, and anastomosed to the axillar artery. This procedure gave our patient a functional stump, giving back the arm functionality, especially the claw movement. [ABSTRACT FROM AUTHOR]

Vulvar mass is not a common problem in youngester and adults. The common complains are such as, vaginal impairment, infections, trauma, and rape. One of the rare vulvar mass has been presented in this case report. The mass was totally removed and was sent to the pathology department for medical examination. The diagnosis of neurofibromatose was confirmed by the laboratory results.

BACKGROUND: The association of hemifacial spasm (HFS), Chiari type I malformation (CIM) and neurofibromatosis type 1 (NF1) has not been described yet. CASE REPORT: We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS. On magnetic resonance imaging (MRI) a CIM was seen without syringomyelia. The patient has been successfully treated with botulinum toxin type A injections for 5 years without major side effects. CONCLUSION:Clinical features of HFS, CMI and NF1 are highlighted together with their possible relationship. Also, therapeutic strategies are also discussed.INTRODUÇÃO: A associação entre espasmo hemifacial (EHF), malformação de Chiari tipo I (MCI) e neurofibromatose tipo I (NFI) ainda não foi descrita. RELATO DO CASO: Relatamos o caso de mulher com 31 anos com NFI que desenvolveu EHF à direita. Na ressonância magnética (RM) foi observada MCI sem seringomielia associada. A paciente foi tratada com sucesso com toxina botulínica tipo A por 5 anos sem efeitos colaterais. CONCLUSÃO: Ressaltamos as características clínicas do EHF, MCI e NFI assim como uma possível relação entre elas. Além disto, discutimos também estratégias terapêuticas.

Relato de caso de neurofibromatose tipo I associada a doença oclusiva extensa do sistema carotídeo em sua porção intracraniana e aneurisma fusiforme de circulação posterior. O paciente, de 28 anos de idade e com diagnóstico de doença de von Recklinghausen, passou a apresentar episódios de síncope, crises parciais complexas e declínio cognitivo. Após quadro agudo de cefaléia e sinais de irritação meníngea, com líquor hemorrágico, o paciente foi investigado com, TC de crânio, RNM e angiografia cerebral, sendo detectadas alterações tipo moyamoya e dilatação aneurismática de artéria cerebral posterior. Apresentamos os achados clínicos e radiológicos deste caso com poucos relatos similares na literatura médica, discutimos opções terapêuticas e reiteramos a inclusão de diagnósticos diferenciais raros em indivíduos que apresentem icto com menos de quarenta anos de idade.

La neurofibromatose de type 1(NF1) ou maladie de Von Recklinghausen est la plus fréquente des phacomatoses. C'est une affection autosomique dominante, où les mutations de novo concernent 50 % des patients. Son diagnostic est clinique avec des critères définis. Les manifestations cutanées arrivent au premier plan avec les taches café au lait (TCL), les lentigines axillaires et inguinales et les neurofibromes cutanés. Les autres critères diagnostiques comprennent le gliome des voies optiques, les nodules de Lisch, la dysplasie sphénoïdale oul''amincissement de la corticale des os longs ainsi quun parent du premier degré atteint de NF1. Aucun traitement curatif nest disponible à ce jour. Nous rapportons l'observation d'une patiente de 32 ans, qui consulte pour une tumeur géante de la face latérale du sein gauche. L'examen dermatologique retrouvait les critères de la NF1 : plus de 6 TCL de plus de 1,5 cm, des lentigines diffuses, des neurofibromes cutanés et un neurofibrome plexiforme géant prenant toute la partie latérale du sein gauche, mesurant environ 25 cm de grand axe. L'examen ophtalmologique a révélé de multiples nodules de Lisch bilatéraux. L'IRM cérébrale et les radiographies osseuses étaient sans anomalie. Une exérèse chirurgicale du neurofibrome plexiforme a été réalisée. Il n y a pas eu de récidive locale après deux ans de suivi.

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Os autores relatam o caso de uma paciente de 31 anos, portadora de neurofibromatose tipo I e astrocitoma pilocítico (confirmado por biopsia) que se estendia dos nervos ópticos à radiação geniculocalcarina bilateralmente.

Meningiomas múltiplos «verdadeiros" geralmente não constituem entidade patológica específica. Em geral, associam-se a neurofibromatose. As clássicas lesões externas, descritas por von Recklinghausen, associadas à neurofibromatose, podem não estar presentes. Isto poderia ser possível devido à penetrância variável de aberrações cromossômicas ligadas ao cromossomo 22. Estudos moleculares desses tumores confirmam esta hipótese. Em nossa série de 108 pacientes com diagnóstico de meningioma intarcraniano, apenas três eram múltiplos. Apenas em um caso, estigmas externos de neurofibromatose foram encontrados. Os dois casos que não apresentavam qualquer estigma foram considerados como meningiomas múltiplos «verdadeiros". Na ausência de manifestações cutâneas habitualmente associadas à neurofibromatose, é extremamente difícil distinguir meningiomas múltiplos associados a neurofibromatose dos assim chamados meningiomas múltiplos verdadeiros. Em nossa opinião não há justificativa para se considerar meningiomas múltiplos como entidade patológica independente.

Os autores apresentam um caso de neurofibromatose em paciente que apresentava uma tumoração lombossacral volumosa, alertando-se para o diagnóstico, as variantes clínicas da moléstia e a preocupação quanto a degeneração malígna de tal afecção.

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Résumé: Le neurofibrome plexiforme est une tumeur rare et bénigne souvent associée à la neurofibromatose de type 1 (NF1) ou maladie de Von Recklinghausen. Présent dans un tiers des cas des NF1, il existe des formes isolées dont le diagnostic doit rester un diagnostic d’élimination. Nous rapportons quatre observations de neurofibromes plexiformes isolés de topographie différentes tous découverts chez l’enfant et discutons du bilan préthérapeutique, de la prise en charge chirurgicale et du suivi à long terme. [ABSTRACT FROM AUTHOR]

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Abstract: Congenital pseudarthrosis of the forearm represents a rare entity which is often associated with neurofibromatosis type I. Isolated pseudarthrosis of the ulna is the most frequent deformity, followed by pseudarthrosis of the radius and both forearm bones. The treatment of these deformities remains difficult: conventional bone grafts rarely lead to complete fusion. The reconstruction by a vascularized fibular graft represents the treatment of choice if the radial head is not dislocated. This procedure allows restoration of a balance between radius and ulna during growth. The presence of a vascularized graft enhances the potential for bony fusion in a fibrous environment. In cases of isolated ulna pseudarthrosis, a luxation of the proximal radial epiphysis may occur when the ulnar deformity increases with time. The single-bone forearm represents a salvage procedure that creates a stable upper limb with a satisfactory wrist and elbow function. The two clinical cases of a pseudarthrosis of both forearm bones and of an ulna pseudarthrosis are presented. [Copyright &y& Elsevier]

Abstract: We report a case of reconstruction of a dysplasic thoracic spine with vascularized fibula in Recklinghausen’s disease. We present the case of a thirteen-year-old lady with neurofibromatosis type 1 who developed a dystrophic thoracic kyphoscoliosis. A T9 compression due to a severe scaloping of the thoracic spine caused an important deformation and a medullar compression (with dorsal pain, right sciatica and a pyramidal syndrome). The surgery consisted in medullar liberation by a T9–T10 corporectomy and an osteosynthesis with arthrodesis T3–L3. A free vascularized fibula bone graft, with an end-to-end anastomosis on a thoracic pedicle, was realized to fill the T8–T11 spinal defect. All the symptoms decreased after surgery and the patient could walk normally few months later. At one-year follow-up the radiographs showed a stable montage and a solid bony fusion. Analysing the literature, vascularized bone graft can be recommended to fill the bony spinal defect due to surgery in cases of tumor, infection, trauma or severe scoliosis. Compared to non-vascularized grafts, which are exposed to resorption, fatigue fracture and then instability, the vascularized fibula grafts provide a rapid fusion, a biomechanically stable and long-standing support with low risks of infection. [Copyright &y& Elsevier]

Abstract: Introduction: Neurofibromatoses represent a group of 7 diseases having the same cutaneous signs due to a common embryologic origin. The types 1 and 2 are the most frequent and the most studied. Neurofibromatosis type 1 (NF1) or Von Recklinghausen''s neurofibromatosis is an autosomal dominantly inherited disease, whose prevalence is 1/4500. The cranio-orbitotemporal lesions exist in 1 to 10% of the cases. Neurofibromatosis type 2 (NF2) is also an autosomal dominantly inherited disease, but is ten times less frequent than the NF1 and is characterized by bilateral vestibular schwannomas (former acoustic neurinomas). The purpose of this work was to detail the clinical features, highlighting the diagnostic and therapeutic difficulties. Material and methods: Nine patients managed between 1990 and 2005 were reviewed retrospectively. Eight patients were found carrier of NF1 and one patient carrier of NF2 according to the diagnostic criteria of the 1988''s National Institute of Health consensus. Results: Five women and four men were managed; patient age varied between 13 and 62 years and the mean age was 26 years. Surgical resection of the tumor was carried out among 8 patients with bone reconstruction of the orbit on 3 patients and cutaneous expansion on one other. The results are difficult to appreciate especially that the surgery was iterative. However, all our patients were satisfied with the result and we noted recurrence in a patient presenting a retro-auricular tumor, which filled the external auditory canal requiring a further surgery. The patient having NF2 was treated by neurosurgery and showed a good result. Discussion: The NF1 manifestations are extremely variable. Facial neurofibromatoses are difficult to control given the presence of soft tissues infiltration and the associated osseous dysplasia. The results are modest and recurrence is frequent. Cancer risks and the disease''s completely unpredictable evolution urge a regular and multidisciplinary patient follow-up. [Copyright &y& Elsevier]