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1.
In. Martínez Benia, Fernando. Anatomía del sistema nervioso periférico. Parte 1, Nervios espinales. Montevideo, Oficina del Libro FEFMUR, 2023. p.103-111, ilus.
Monography in Spanish | LILACS, UY-BNMED, BNUY | ID: biblio-1414640
2.
Rev. méd. Maule ; 37(1): 47-52, jun. 2022. ilus
Article in Spanish | LILACS | ID: biblio-1397625

ABSTRACT

Benign tumors of peripheral nerves called Schwannomas or neurilemomas, correspond to a rare pathology, represent 5% of all tumors of the upper extremity, and affects, mainly, the ulnar nerve. The incidence of Schwannoma in the literature for the radial nerve is not clearly established given the infrequency of its presentation, there are only reports of isolated cases The following publication presents the case of a male patient with a radial nerve schwannoma. Clinically, presents increased painful volume on palpation, well delimited, of soft consistency in the distal third of the right arm of 3 years of evolution, without history of previous trauma, without irradiation, or paresthesia, with preservation of motor and sensory function of radial, median and ulnar nerve. Considering that the involvement of the radial nerve is very low frequency, a review is carried out in PubMed, in the last 10 years, there are only 9 studies, grouped in case reports and imaging studies for diagnosis.


Subject(s)
Humans , Male , Middle Aged , Peripheral Nervous System Neoplasms/surgery , Peripheral Nervous System Neoplasms/diagnosis , Radial Neuropathy , Biopsy , Magnetic Resonance Spectroscopy , Ultrasonography , Nerve Sheath Neoplasms/surgery , Nerve Sheath Neoplasms/diagnosis
3.
Rev. medica electron ; 43(6): 1728-1737, dic. 2021.
Article in Spanish | LILACS, CUMED | ID: biblio-1409674

ABSTRACT

RESUMEN La hiperqueratosis es un trastorno caracterizado por el engrosamiento de la capa externa de la piel, que está compuesta de queratina, una fuerte proteína protectora. Puede ser causada por fricción, conllevando la aparición de callosidades, inflamación crónica, eccema o trastornos genéticos, como la ictiosis ligada al cromosoma X. Se presentó el caso de un paciente de 47 años, que acudió al Servicio de Ortopedia por lesión escamosa a nivel de ambas regiones plantares con dificultad para la marcha. El tratamiento quirúrgico fue el empleado en este paciente para la obtención de la biopsia exerética. La evolución fue favorable en el postoperatorio mediato e inmediato, y el paciente se incorporó de forma rápida a su vida normal. Con este caso se identificaron las características clínicas de la hiperqueratosis plantar, así como el uso de la biopsia exerética como estándar de oro para el diagnóstico positivo en los tumores periféricos. Un diagnóstico adecuado por el médico inicial, la interrelación del Servicio de Ortopedia con la consulta de tumores periféricos, y el tratamiento quirúrgico seleccionado, constituyen factores determinantes en la evolución favorable de los pacientes con este diagnóstico (AU).


ABSTRACT Hyperkeratosis is a disorder characterized by thickening of the outer layer of the skin, which is composed of keratin, a strong protective protein. It can be caused by friction, leading to callosities, chronic inflammation, eczema or genetic disorders such as X chromosome-linked ichthyosis. We presented the case of a patient, aged 47 years, who attended the Orthopedic Service for scaly lesion at the level of both plantar regions with difficulties to walk. Surgical treatment was used in this patient to obtain an exeretic biopsy. The evolution was favorable in both the mediate and immediate postoperative period, and the patient quickly returned to his normal life. This case identified the clinical characteristics of plantar hyperkeratosis and the use of exeretic biopsy as a gold standard for positive diagnosis in the peripheral tumors. An adequate diagnosis by the initial physician, the interrelation of the orthopedic service with the consultation of peripheral tumors, and the chosen surgical treatment are determining factors in the favorable evolution of patients with this diagnosis (AU).


Subject(s)
Humans , Female , Peripheral Nervous System Neoplasms/diagnosis , Keratoderma, Palmoplantar/diagnosis , Orthopedics/methods , Skin Diseases , Biopsy/methods , Keratoderma, Palmoplantar/surgery , Keratoderma, Palmoplantar/genetics , Keratoderma, Palmoplantar/epidemiology
4.
Arq. bras. neurocir ; 40(1): 86-90, 29/06/2021.
Article in English | LILACS | ID: biblio-1362246

ABSTRACT

Paragangliomas are rare, benign and slow-growing neuroendocrine tumors that can arise from the adrenal medulla (85­90%) or from the extra-adrenal paraganglia. In the central nervous system (CNS), they can be found at several sites, but more often at the cauda equina and filum terminale region, where they account for between 2.5 and 3.8% of total tumor cases of that region. There are only 8 cases described in the literature that mention the presence of the gangliocytic variant of this entity at the filum terminale. We present the case of a 41-year-old man with chronic lumbar pain refractory to medical treatment, without any associated neurological deficits. Magnetic resonance imaging (MRI) revealed an intradural, extramedullar oval lesion with regular contours and homogeneous caption of contrast at L1 level. He was submitted to surgical treatment, with complete resection of the lesion. The histological analysis revealed a gangliocytic paraganglioma of the filum terminale. At 5 years of follow-up, he remains asymptomatic and without any signs of relapse. These are lesions with an overall good prognosis with gross total resection. Although the recurrence rate is extremely low, prolonged observation is recommended due to the slow-growing nature of the tumor, being estimated that between 1 and 4% can recur even after gross total removal.


Subject(s)
Humans , Male , Adult , Paraganglioma/surgery , Paraganglioma/pathology , Peripheral Nervous System Neoplasms/surgery , Cauda Equina/surgery , Paraganglioma/diagnostic imaging , Peripheral Nervous System Neoplasms/diagnostic imaging , Cauda Equina/injuries , Low Back Pain , Laminectomy/methods
5.
Article in English, Portuguese | LILACS | ID: biblio-1369475

ABSTRACT

Introdução: O schwanoma é um tumor pouco frequente que se origina das células de Schwann que recobrem os prolongamentos nervosos. A malignidade desses tumores é ainda mais rara, correspondendo a 5-10% de todos os sarcomas. O prognóstico é reservado, mesmo após completa ressecção cirúrgica. Relato do caso: Paciente do sexo masculino, 79 anos, apresentou-se com lesão crostosa em perna esquerda com dois meses de evolução. A biópsia da lesão inicialmente revelou sarcoma pleomórfico, mas seu padrão imuno-histoquímico confirmou tumor maligno da bainha do nervo periférico. O tumor desenvolveu metástase linfonodal, pulmonar e adrenal dentro de poucos anos após o diagnóstico inicial. A ressecção do tumor adrenal não foi possível. O paciente desenvolveu síndrome paraneoplásica e teve piora do estado clínico, evoluindo a óbito. Conclusão: Tendo em vista a forma inespecífica do aparecimento do tumor e sua agressividade, é importante ressaltar o papel da ressecção cirúrgica ampla no seu tratamento. Além disso, fica evidente a necessidade de novos relatos desse tipo de neoplasia para melhor definição de uma conduta mais apropriada, principalmente em casos de recorrência ou disseminação metastática


Introduction: Schwannoma is a rare type of tumor which grows from Schwann cells, that protect nerve extensions. The malignancy of these tumors is even rarer, corresponding to 5-10% of all sarcomas. The prognosis is dismal, even after complete surgical resection. Case report: A 79-year-old male patient presented with a crusted lesion in his left leg with two months of evolution. Initially, the biopsy of the lesion revealed pleomorphic sarcoma, but its immunohistochemical pattern was peripheral nerve sheath malignant tumor. The tumor developed lymph node, lung, and adrenal metastasis within a few years after the first diagnosis. Adrenal tumor resection was not possible. The patient developed paraneoplastic syndrome and his clinical status worsened, progressing to death. Conclusion: In view of the nonspecific form of tumor appearance and its aggressiveness, it is important to highlight the role of wide surgical resection in its treatment. In addition, it is clear that new case reports of this type of neoplasia are necessary for better definition of more appropriate conducts, especially in recurrence or metastatic cases


Introducción: El schwannoma es un poco común, el cual se origina en las células de Schwann, que cubren las extensiones nerviosas. La malignidad de estos tumores es aún más rara, y representa 5-10% de todos los sarcomas. El pronóstico es reservado, incluso después de una resección quirúrgica completa. Relato del caso: Varón de 79 años que presenta una lesión costrosa en la pierna izquierda a los dos meses de evolución. La biopsia de la lesión reveló inicialmente un sarcoma pleomórfico, pero su patrón inmunohistoquímico era un tumor maligno de la vaina del nervio periférico. El tumor desarrolló metástasis en los ganglios linfáticos, pulmones y suprarrenales pocos años después del diagnóstico. La resección del tumor suprarrenal no fue posible. El paciente desarrolló síndrome paraneoplásico y empeoró el estado clínico, progresando hasta la muerte. Conclusión: Dada la forma inespecífica de aparición del tumor y su agresividad, es importante destacar el papel de la resección quirúrgica amplia en su tratamiento. Además, existe una clara necesidad de nuevos informes de este tipo de neoplasias para definir mejor un abordaje más adecuado, especialmente en casos de recurrencia o diseminación metastásica


Subject(s)
Humans , Male , Aged , Peripheral Nervous System Neoplasms , Neurofibrosarcoma , Adrenal Glands , Lung , Neoplasm Metastasis , Neurilemmoma
6.
Rev. bras. ortop ; 55(5): 629-636, Sept.-Oct. 2020. tab, graf
Article in English | LILACS | ID: biblio-1144223

ABSTRACT

Abstract Objective To analyze the epidemiological profile and evolution of 20 patients diagnosed with upper- and lower-limb schwannomas. Methods A group of patients was defined for a retrospective evaluation comprising the period between February 2002 and June 2018, in which we studied and evaluated 20 medical records of patients undergoing surgery due to schwannoma; the diagnosis was confirmed by an anatomopathological examination. Results Male and female patients were equally affected. The average age was 50.85 years, ranging from 12 to 77 years. There was a predominance of the upper limb and of the flexor face. The most affected nerve was the ulnar nerve. In total, 6 (30%) patients had transient postoperative complications. No cases of tumor recurrence were identified. Conclusion Schwannoma is a rare and difficult-to-diagnose lesion. It should always be considered as a hypothesis when facing a soft-tissue tumor affecting the limbs. The Tinel sign should be regarded, given its higher correlation with complications. The patients should be informed of the possible postoperative complications, which are frequent but usually transient.


Resumo Objetivo Analisar o perfil epidemiológico e a evolução de 20 pacientes diagnosticados com schwannoma nos membros superiores e inferiores. Métodos Definiu-se um grupo de pacientes para avaliação retrospectiva, compreendendo o período entre fevereiro de 2002 e junho de 2018, no qual foram estudados e avaliados 20 prontuários de pacientes submetidos a procedimento cirúrgico devido a schwannoma; a confirmação diagnóstica foi feita pelo exame anatomopatológico. Resultados Tanto os pacientes do sexo masculino quanto do feminino foram igualmente acometidos, e a média de idade foi de 50,85 anos, variando de 12 a 77 anos. Houve predomínio do membro superior e da face flexora. O nervo mais acometido foi o ulnar, e 6 (30%) pacientes apresentaram complicações pós-operatórias transitórias. Não foi identificado nenhum caso de recidiva tumoral. Conclusão O schwannoma é uma lesão rara e de difícil diagnóstico. Deve sempre ser considerada como hipótese quando se estiver diante de um tumor de partes moles acometendo os membros. O sinal de Tinel deve ser levado em consideração por conta de sua maior correlação com as complicações. Os pacientes devem ser informados quanto às possíveis complicações pós-operatórias, que são frequentes, mas, geralmente, transitórias.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Aged , Peripheral Nervous System Neoplasms/epidemiology , Peripheral Nerves , Lower Extremity , Upper Extremity , Neurilemmoma/epidemiology , Peripheral Nervous System Neoplasms/surgery , Peripheral Nervous System Neoplasms/diagnosis , Postoperative Complications , Retrospective Studies , Neurilemmoma/surgery , Neurilemmoma/diagnosis
7.
Arq. bras. neurocir ; 38(2): 112-116, 15/06/2019.
Article in English | LILACS | ID: biblio-1362605

ABSTRACT

Introduction Primary nerve tumors correspond to 5% of the soft tissue neoplasms affecting the upper limbs, with benign lesions being more frequent than malignant lesions. Objective To describe the epidemiological data of the microsurgical treatment of peripheral nerve tumors performed by the Brazilian Unified Health System (SUS, in the Portuguese acronym), with the code 0403020131, from 2008 to 2016, regarding the number of annual procedures, hospital and professional expenses, the average duration of hospital stay, and the number of deaths. Methods This is a descriptive epidemiological study whose data were obtained by consulting the database provided by the Health Informatics Department of the Brazilian Ministry of Health (DATASUS, in the Portuguese acronym). Results/Discussion A total of 6,012 procedures were performed during the period studied, with an average of 688 procedures per year. The average hospital stay was of 2.13 days. There was nomortality rate. The average annual cost of the professional was BRL 50,091.45; and the average hospital expenses were BRL111,887.94. Conclusion The microsurgical treatment of peripheral nerve tumors is a safe surgical procedure with zero mortality rate and short hospital stay. There was no national data on tumors of this nature in the medical literature.


Subject(s)
Peripheral Nervous System Neoplasms/surgery , Peripheral Nervous System Neoplasms/epidemiology , Unified Health System , Brazil/epidemiology , Health Care Costs , Survival Analysis , Epidemiology, Descriptive , Microsurgery/methods
8.
Rev. bras. ortop ; 53(2): 192-199, Mar.-Apr. 2018. tab, graf
Article in English | LILACS | ID: biblio-899253

ABSTRACT

ABSTRACT Objective: The aim of this study was to describe the strategies adopted in this institution to diagnose and treat patients with benign tumors affecting the median nerve. Methods: A retrospective chart review study of all patients operated on between 2010 and 2015. Histology, symptoms, complementary exams, surgical techniques performed, and demographic characteristics were analyzed. Results: Fifty-four patients were included in the study. There were three neurofibromas, six schwannomas, 15 lipofibromatous hamartomas, three hemangiomas, 12 lipomas, one benign fibrohistiocytoma, and 14 synovial cysts. Complete tumoral resection was performed in 32 cases, partial resection in five, segmented nerve resection in one, nerve decompression in eight, and amputation for macrodactyly in eight. Conclusions: The most important recommendations on treating benign tumors of the median nerve are related to the clinical symptoms, tumoral growth, and tumoral nature. The surgical approach resulted in good function for 60% of the patients. However, lipofibromatous hamartomas, hemangiomas, and neurofibromas were associated with preoperative functional deficit. It may be inferred that the diagnosis and treatment of these tumors should be performed earlier.


RESUMO Objetivo: Descrever as estratégias adotadas nesta instituição para o diagnóstico e tratamento de pacientes com tumores benignos que afetam o nervo mediano. Métodos: Um estudo de revisão retrospectivo foi feito com todos os pacientes operados entre 2010 e 2015. Foram analisados histologia, sintomas, exames complementares, técnicas cirúrgicas aplicadas e características demográficas. Resultados: O estudo incluiu 54 pacientes. Observaram-se três casos de neurofibromas, seis schwannomas, 15 hamartomas lipofibromatosos, três hemangiomas, 12 lipomas, um fibro-histiocitoma benigno e 14 cistos sinoviais. Em 33 casos, foi feita ressecção tumoral completa; em cinco, ressecção parcial; em um, ressecção segmentar de nervo; em oito, descompressão de nervo; e em oito, amputação de macrodactilia. Conclusões: As recomendações mais importantes no que diz respeito ao tratamento de tumores benignos do nervo mediano estão relacionadas aos sintomas clínicos, ao crescimento tumoral e à natureza tumoral. A abordagem cirúrgica levou a bons resultados funcionais em 60% dos pacientes. No entanto, hamartomas lipofibromatosos, hemangiomas e neurofibromas foram associados ao déficit funcional pré-operatório. Pode-se inferir que o diagnóstico e o tratamento desses tumores devem ser feitos de forma precoce.


Subject(s)
Humans , Male , Female , Adult , Median Nerve , Peripheral Nervous System Neoplasms , Soft Tissue Neoplasms
9.
The Korean Journal of Gastroenterology ; : 150-154, 2018.
Article in Korean | WPRIM | ID: wpr-717115

ABSTRACT

A primary benign schwannoma of the liver is extremely rare. Only 30 cases have been reported in the medical literature worldwide, and only one case has been reported in Korea previously. A 56-year-old man was admitted to Gil Medical Center with incidental findings of a hepatic mass by abdominal computed tomography. The computed tomography and magnetic resonance image revealed a 3×2 cm-sized solid mass in the left lobe of the liver. Histological examination confirmed the diagnosis of a benign schwannoma, proven by positive immunoreaction with the neurogenic marker S-100 protein and a negative response to CD34, CD117, and smooth muscle actin. We report a primary benign schwannoma of the liver and review the literature.


Subject(s)
Humans , Middle Aged , Actins , Diagnosis , Incidental Findings , Korea , Liver , Muscle, Smooth , Neurilemmoma , Peripheral Nervous System Neoplasms , S100 Proteins
10.
Hansen. int ; 43: 2367, 2018. ilus
Article in English | HANSEN, SES-SP, LILACS, HANSENIASE, SESSP-ILSLPROD, SES-SP, SESSP-ILSLACERVO, SES-SP | ID: biblio-1148514

ABSTRACT

From December 1999 to May 2015, five patients with nerve tumors were sent to Lauro de Souza Lima Institute. It was suspected that they suffered from primary neural leprosy towards the tuberculoid clinical form, a prevalence of 4.5:10000 among the new patients assessed during the study period. All of the patients had similar clinical conditions characterized by mononeuropathy with nerve tumor associated with pain, absence of skin lesions and positive Mitsuda reaction. The authors report the main clinical characteristics and complementary tests: immunologic investigation of Mitsuda's reaction and the antigen Phenolic GlicoLipid-1 test (PGL-1), bacilloscopic index, neurophysiologic study and image procedures. All patients were submitted to tumor resection and anatomopathological study. Four out of the five patients were diagnosed with peripheral nerve tumor (one of them with malignant schwannoma, two of them with benign schwannomas and the other with neural fibrolipoma), whereas the fifth patient was diagnosed with tuberculoid leprosy.


No período de dezembro de 1999 a maio de 2015, foram encaminhados ao Instituto Lauro de Souza Lima (ILSL) cinco pacientes com tumoração em nervos suspeitos de hanseníase neural primária (HPN) da forma clinica tuberculoide, uma prevalência de 4,5/10000 entre os casos novos atendidos nesse período. Todos os pacientes apresentavam quadro clínico semelhante caracterizado por mononeuropatia com tumoração do nervo associada à dor, ausência de lesões de pele e reação de Mitsuda positiva. Os autores relatam as principais características clinicas e os exames complementares: investigação imunológica da reação de Mitsuda e o teste do antigeno Glicolipídeo-Fenólico-1, índice baciloscópico, avaliação neurofisiológica e estudos de imagem. Todos os pacientes foram submetidos a ressecção cirúrgica do tumor e estudo anatomopatológico. Dentre os cinco pacientes, quatro foram diagnosticados como tumor de nervo periférico (um Schwannoma maligno, dois Schwannomas benignos e um fibrolipoma neural) e um como hanseníase tuberculoide.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Peripheral Nervous System Neoplasms/diagnosis , Leprosy, Tuberculoid/diagnosis , Neurilemmoma , Diagnosis, Differential
11.
Acta Academiae Medicinae Sinicae ; (6): 850-852, 2018.
Article in Chinese | WPRIM | ID: wpr-774006

ABSTRACT

Peripheral neurogenic tumors can be featured by entering-and-exiting-nerve sign,which,however,is rarely seen in patients with spinal schwannoma. In this article we report a spinal schwannoma case with entering-and-exiting-nerve sign.


Subject(s)
Humans , Neurilemmoma , Diagnosis , Peripheral Nervous System Neoplasms , Diagnosis
12.
Chinese Journal of Gastrointestinal Surgery ; (12): 62-66, 2017.
Article in Chinese | WPRIM | ID: wpr-303909

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the association of peripheral nerve invasion (PNI) with clinicopathological factors and prognosis of colorectal cancer.</p><p><b>METHODS</b>Clinicopathological data and Surgical specimens of 372 colorectal cancer patients who underwent radical resection from January 2011 to June 2012 in The Second Affiliated Hospital of Harbin Medical University were collected. Histopathological evaluation of tissue samples was conducted with hematoxylin and eosin-stained sections. PNI was considered positive when cancer cells were observed inside the nerve sheath, or when at least 33% of the nerve periphery was surrounded by cancer cells. The relationship between PNI and clinicopathological factors of colorectal cancer was analyzed by χtest or Fisher's exact test. Three-year overall survivals of PNI positive and negative patients were determined using the Kaplan-Meier method. Detection results were compared using log-rank test.</p><p><b>RESULTS</b>Of 372 colorectal cancer patients, 133 (35.8%) were PNI positive. Among the PNI positive patients, 63 cases were male and 70 cases female; 76 cases were more than 60 years old and 57 cases less than 60 years old; tumors of 6 cases located in the ileocecal colon, of 33 cases in the ascending colon, of 7 cases in the transverse colon, of 8 cases in the descending colon, of 22 cases in the sigmoid colon, and of 57 cases in the rectum; tumor diameter was greater than 4 cm in 83 cases, and less than 4 cm in 50 cases; tumors of 48 cases were moderately or highly differentiated, and of 85 cases poorly-differentiation; tumor invasion depth in 2 cases, T2 in 7 cases, T3 in 93 cases, T4 in 31 cases; lymphatic metastasis was N0 phase in 56 cases, N1 in 41 cases, and N2 in 36 cases; tumors were stage I( in 2 cases, stage II( in 40 cases, of stage III( in 75 cases and stage IIII( in 16 cases. The positive rate of PNI was significantly associated with tumor location (χ=11.20, P=0.048), tumor size (χ=21.80, P=0.000), differentiation (χ=60.90, P=0.000), depth of invasion (χ=19.00, P=0.000), lymph node metastasis (χ=19.70, P=0.000) and TNM staging (χ=70.80, P=0.000), but not with sex, age or vascular invasion(P>0.05). The median follow-up time was 48 (8 to 62) months. Kaplan-Meier survival curve showed that the 3-year survival rate of PNI positive patients was 52.6%, significantly lower than that of PNI negative patients(78.3%, P=0.000). Further analysis of patients with stage II( and III( colorectal cancer showed that the 3-year survival rates of PNI positive patients were 62.3% and 43.5%, respectively, which were significantly lower than those of PNI negative patients with stage II( and III((91.7% and 79.4%), and the differences were statistically significant(P=0.000).</p><p><b>CONCLUSIONS</b>PNI is a poor prognostic factor of colorectal cancer. It may be a complement of the classic TNM staging classification in stratifying colorectal cancer patients, especially in stages II( and III(.</p>


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Colorectal Neoplasms , Diagnosis , Epidemiology , Mortality , Pathology , Follow-Up Studies , Kaplan-Meier Estimate , Lymphatic Metastasis , Pathology , Neoplasm Grading , Neoplasm Invasiveness , Pathology , Neoplasm Staging , Peripheral Nervous System Neoplasms , Mortality , Pathology , Prognosis , Retrospective Studies , Risk Factors , Survival Rate
13.
Journal of Genetic Medicine ; : 56-61, 2017.
Article in English | WPRIM | ID: wpr-179820

ABSTRACT

PURPOSE: Neurofibromatosis type 2 (NF2) is characterized by multiple tumors, including vestibular schwannoma (VS) and others affecting cranial and peripheral nerves. NF2 is caused by mutation of the NF2 gene. The mutation spectrum of NF2 has not been characterized in Korean patients. In the current study, the clinical and genetic characteristics of Korean NF2 patients were analyzed. MATERIALS AND METHODS: Twenty-five unrelated Korean families were enrolled according to the Manchester criteria. Genetic analysis was performed by direct sequencing and multiplex ligation-dependent probe amplification methods using genomic DNA from peripheral lymphocytes or tumor tissues. RESULTS: All patients had bilateral/unilateral VS and/or other cranial and peripheral nerve tumors. Two patients were familial cases and the other 24 patients were sporadic. Germline NF2 mutations were detected in peripheral lymphocytes from both familial cases, but only in 26.1% of the 23 sporadic families. Somatic mutations were also found in tumor tissues from two of the sporadic families. These somatic mutations were not found in peripheral lymphocytes. A total of 10 different mutations including 2 novel mutations were found in 40.0% of studied families. Five mutations (50.0%) were located in exon 6 of NF2, the FERM domain coding region. CONCLUSION: Family history was an important factor in identifying germline NF2 mutations. Further study is required to investigate whether exon 6 is a mutation hotspot in Korean NF2 patients and its correlation to phenotypic severity.


Subject(s)
Humans , Clinical Coding , DNA , Exons , Genes, Neurofibromatosis 2 , Korea , Lymphocytes , Multiplex Polymerase Chain Reaction , Neurofibromatoses , Neurofibromatosis 2 , Neuroma, Acoustic , Peripheral Nerves , Peripheral Nervous System Neoplasms
14.
Rev. ANACEM (Impresa) ; 10(2): 20-23, 2016. tab, ilus
Article in Spanish | LILACS | ID: biblio-1291224

ABSTRACT

Introducción: El Meningioma de Células Claras (MCC) es un raro subtipo de meningioma. Se han descrito más de 100 casos de MCC a nivel mundial, de ellos sólo se han publicado 17 con duramadre indemne, presentándose generalmente en mujeres jóvenes. El objetivo es presentar un caso clínico inusual y atípico, conociendo manejo y pronóstico. Presentación del caso: Se trata de un varón de 75 años con antecedentes de hipertensión arterial y leucemia linfoide crónica en tratamiento, que consultó por dolor polirradicular y paresia de extremidades inferiores con posterior compromiso esfinteriano. La resonancia nuclear magnética de columna evidenció un tumor intradural a nivel de L1-L3. Se realizó exéresis tumoral bajo neuromonitoreo, observándose un tumor amarillo-grisáceo adyacente al cono medular y a la cauda equina, sin afección de la duramadre. El estudio histológico e inmunohistoquímico demostraron MCC. El paciente evolucionó con regresión completa de su sintomatología preoperatoria. Discusión: En la cauda equina, incluso sin implantación dural, debe plantearse la posibilidad de un meningioma, enfatizando en la resección completa de la lesión a causa del fuerte factor predictor de recidiva.


Introduction: The Clear Cell Meningioma (CCM) is a rare subtype of meningioma. Have been reported more than 100 cases of CCM in the world, of which only 17 cases are nondura-based CCM, more frequently in young women. The aim is to present an unusual case knowing management and prognosis. Case report: This is a man of 75 years old with a history of hypertension and chronic lymphocytic leukemia in treatment, who consulted for polirradicular pain and paresis of lower extremities with subsequent sphincteric compromise. The magnetic resonance imaging showed spinal tumor in L1-L3. Tumor resection was per-formed under neuromonitoring and observed a nondura-based tumor adjacent to the medullary cone and the cauda equina. The histological and immunohistochemical study showed CCM. The patient developed complete regression of preoperative symptoms. Discussion: In horsetail, even without dural implantation, it should consider the possibility of a meningioma, emphasizing in the complete resection of the lesion given strong predictor factor of recurrence


Subject(s)
Humans , Male , Aged , Peripheral Nervous System Neoplasms/surgery , Peripheral Nervous System Neoplasms/diagnostic imaging , Cauda Equina/diagnostic imaging , Meningioma/surgery , Meningioma/diagnostic imaging , Magnetic Resonance Spectroscopy
15.
National Journal of Andrology ; (12): 251-255, 2015.
Article in Chinese | WPRIM | ID: wpr-319510

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the erectile and ejaculatory function of sacral tumor patients after sacral nerve root resection and investigate the relationship of erectile and ejaculatory dysfunction (EED) with the level of sacral nerve injury.</p><p><b>METHODS</b>This retrospective study included 47 male patients aged 16 to 63 (32.6 +/- 6.8) years treated by sacral tumor resection between January 2008 and August 2013. According to the levels of the sacral nerve roots spared in surgery, the patients were divided into four groups: bilateral S1-S3 (n=16), unilateral S1-S3 (n=21), unilateral S1-S2 (n=6), and unilateral S1 (n=4). The patients were followed up for 12 to 41 (27.2 +/- 10.9) months by questionnaire investigation, clinic review, and telephone calls about their erectile and ejaculatory function at 3, 6 and 12 months after surgery and in August 2013.</p><p><b>RESULTS</b>In the bilateral S1-S3 group, the incidence rates of EED were 31.25% (5/16), 25% (4/16), and 12.5% (2/16) at 3, 6, and 12 months respectively after surgery, with recovery of erectile and ejaculatory function in August 2013. The incidence rates of EED in the unilateral S1-S3 group were 85.71% (18/21), 71.43% (15/21), 52.38% (11/21), and 42.86% (9/21) at 3, 6 and 12 months and in August 2013, respectively; those in the unilateral S1-S2 group were 100% (6/6), 83.33% (5/6), 83.33% (5/6), and 66.67% (4/6) at the four time points; and those in the unilateral S1 group were all 100% (4/4). No statistically significant differences were found in the incidence rate of EED among the patients of different ages or tumor types (P > 0.05).</p><p><b>CONCLUSION</b>The incidence of postoperative EED in male patients treated by sacral tumor resection is closely related to the mode of operation. Sparing the S3 nerve root at least unilaterally in sacral tumor resection is essential for protecting the erectile and ejaculatory function of the patient.</p>


Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Ejaculation , Physiology , Erectile Dysfunction , Epidemiology , Incidence , Organ Sparing Treatments , Peripheral Nervous System Neoplasms , General Surgery , Postoperative Complications , Epidemiology , Postoperative Period , Retrospective Studies , Sacrum , Spinal Nerve Roots , Wounds and Injuries , General Surgery , Surveys and Questionnaires
16.
Article in English | IMSEAR | ID: sea-154458

ABSTRACT

Schwannomas arising from vagus nerve sheath are rare mediastinal neurogenic tumours. Schwannomas usually arise from left hemithorax. Unlike a hamartoma, radiologically, calcification is rarely seen in schwannomas. We present the rare case of an ancient schwannoma arising from vagus nerve sheath from the right hemithorax presenting with gross calcification.


Subject(s)
Adult , Calcinosis/etiology , Hamartoma/diagnosis , Humans , Male , Neurilemmoma/diagnosis , Neurilemmoma/pathology , Neurilemmoma/diagnostic imaging , Peripheral Nervous System Neoplasms/diagnosis , Peripheral Nervous System Neoplasms/pathology , Peripheral Nervous System Neoplasms/diagnostic imaging
17.
Anesthesia and Pain Medicine ; : 24-26, 2014.
Article in English | WPRIM | ID: wpr-56314

ABSTRACT

Solitary peripheral nerve tumor is rare and difficult to diagnose correctly. We present an unusual case of sciatic nerve tumor in a patient with leg buttock pain. Initial lumbar magnetic resonance imaging (MRI) revealed a herniated nucleus pulposus on L5-S1. Physical examination showed a palpable mass on the left buttock and Tinel's sign was elicited with palpation of the left posterior buttock. MRI examination of the hip revealed a tumor of the sciatic nerve adjacent to the left sciatic notch. Excision of the tumor was easily performed with subsequent slight motor weakness on dorsiflexion. Histopathological examination revealed the tumor to be a neurofibroma. Solitary neurofibroma without any evidence of neurofibromatosis is a rare condition. This case emphasizes the importance of physical examination and continued investigations.


Subject(s)
Humans , Buttocks , Hip , Leg , Magnetic Resonance Imaging , Neurofibroma , Neurofibromatosis 1 , Palpation , Peripheral Nervous System Neoplasms , Physical Examination , Sciatic Nerve , Sciatica
19.
Chinese Journal of Pathology ; (12): 305-310, 2013.
Article in Chinese | WPRIM | ID: wpr-233464

ABSTRACT

<p><b>OBJECTIVE</b>To study the clinicopathologic characteristics of peripheral neuroblastic tumors and to evaluate the prognostic significance of these features.</p><p><b>METHODS</b>The clinical and pathologic findings were retrospectively reviewed in 121 cases of peripheral neuroblastic tumor. The clinical outcomes of patients were evaluated. The three-year event-free survival rate was analyzed, with respect to age of patients, Evan's staging, International Neuroblastoma Pathology Classification and mitosis-karyorrhexis index.</p><p><b>RESULTS</b>The median age at diagnosis was 2.7 years; and 96 cases (79.3%) occurred in patients younger than 5 years old. The number of cases in Evan's staging I, II, III, IV and IVs was 24, 39, 24, 29 and 5, respectively. There were 82 cases of neuroblastoma (NB) (including 2 cases of undifferentiated NB, 52 cases of poorly differentiated NB and 28 cases of differentiating NB), 9 cases of ganglioneuroblastoma, intermixed type (GNBi), 19 cases of ganglioneuroma, maturing type (GN) and 11 cases of ganglioneuroblastoma, nodular type (GNBn). Forty-nine cases were in the favorable histology subgroup and 72 cases in the unfavorable histology subgroup. The overall three-year event-free survival rate of the 121 cases was 73.0% ± 4.3%. The three-year event-free survival rates were associated with age (P = 0.002), Evan's staging (P = 0.000), histologic category (P = 0.000), mitosis-karyorrhexis index (P = 0.043), prognostic subgroup (P = 0.000).</p><p><b>CONCLUSIONS</b>Most of the peripheral neuroblastic tumors occur in the children younger than 5 years old. It is composed of NB, GNBi, GN and GNBn. The three-year event-free survival rate is approximately 70%. Significant prognostic parameters include age of patients, Evan's staging, International Neuroblastoma Pathology Classification and mitosis-karyorrhexis index.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Age Factors , Antigens, Nuclear , Metabolism , Disease-Free Survival , Ganglioneuroblastoma , Metabolism , Pathology , General Surgery , Ganglioneuroma , Metabolism , Pathology , General Surgery , Neoplasm Staging , Nerve Tissue Proteins , Metabolism , Nestin , Metabolism , Neuroblastoma , Metabolism , Pathology , General Surgery , Peripheral Nervous System Neoplasms , Metabolism , Pathology , General Surgery , Phosphopyruvate Hydratase , Metabolism , Retrospective Studies , S100 Proteins , Metabolism
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