Metachronic breast and cerebellar neoplasm in a young patient / Neoplasias mamária e cerebelar metacrônicas em uma paciente jovem

Abstract Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.

Resumo Diversos fatores desencadeiam o desenvolvimento de mutações genéticas que são responsáveis por originar uma neoplasia. O meduloblastoma é uma neoplasia cerebelar maligna e invasiva que acomete crianças e adultos jovens. O carcinoma mucinoso é um tipo de câncer de mama especial por ser um subtipo atípico de carcinoma invasivo, que acomete com maior frequência mulheres de idade avançada e representa entre 1 a 7% do total de neoplasias mamárias. O caso relatado tem como objetivo mostrar a raridade da ocorrência do meduloblastoma desmoplásico e carcinoma mucinoso mamário em uma paciente jovem em um curto período de tempo, em diferentes sítios sem ligação anatômica direta e sem ocorrência de metástase. Inicialmente, esta paciente possuía um meduloblastoma desmoplásico e foi tratada com tumorectomia e radioterapia. Após 13 meses, a paciente foi diagnosticada com carcinoma mucinoso de mama, sendo submetida a mastectomia, quimioterapia adjuvante e atualmente está sendo tratada com endocrinoterapia. Concluímos, com base na característica metacrônica da neoplasia e características clínicas, que a paciente apresenta a síndrome de Li-Fraumeni, doença autossômica dominante com mutação do gene TP53, que é o principal gene envolvido nesta síndrome. Por não apresentar as características completas do fenótipo da síndrome, a paciente pode assim ser classificada como portadora de uma variante da síndorme de Li-Fraumeni ou síndrome do tipo Li-Fraumeni.

Utilidad del coeficiente de difusión aparente en resonancia magnética como método auxiliar para la diferenciación entre meduloblastomas y ependimomas de la fosa craneal posterior en niños y adultos tratados en el Hospital Carlos Van Buren de Valparaíso: Una experiencia preliminar / Usefulness of apparent diffusion coefficient in magnetic resonance as an auxiliary method for the differentiation between medulloblastomas and ependymomas of the posterior cranial fossa in children and adults treated at the Carlos Van Buren Hospital in Valparaíso: A preliminary experience

The use of the apparent diffusion coefficient (ADC) in magnetic resonance imaging (MRI) has been shown to be useful in the task of differentiating primary brain tumors. Our objective is to evaluate its use to differentiate between medulloblastomas and ependymomas. We analyzed 37 cases: 21 medulloblastomas (average age 12 years) and 16 ependymomas (average age 5 years) of the posterior fossa treated at the Carlos Van Buren Hospital in Valparaíso between december 2005 and June 2015. There were 15 and 5 males in each group respectively. In addition to age and gender, ADC values of tumors (ADCt) and healthy tissue were collected. The ADCt values for medulloblastoma and ependymoma averaged 0.64 and 0.92 [x10-3 mm²/s] respectively (p< 0.001). The multivariate model included gender and ADCt, with a sensitivity of 0.95 and a specificity of 0.87 to predict medulloblastoma. We can conclude that ADC measurement helps differentiate tumors of different cellularity such as medulloblastoma and ependymoma.

El uso del coeficiente de difusión aparente (ADC) en resonancia magnética (RM) ha demostrado ser útil en la tarea de diferenciar tumores cerebrales primarios. Nuestro objetivo es evaluar su uso para diferenciar entre meduloblastomas y ependimomas. Se analizaron 37 casos: 21 meduloblastomas (edad promedio 12 años) y 16 ependimomas (edad promedio 5 años) de fosa posterior tratados en el hospital Carlos Van Buren de Valparaíso, entre diciembre de 2005 y junio de 2015. Hubo 15 y 5 hombres en cada grupo respectivamente. Además de edad y sexo se recolectaron valores ADC tumorales (ADCt) y de tejido sano. Los valores ADCt para meduloblastoma y ependimoma promediaron 0,64 y 0,92 [x 10-3 mm²/s] respectivamente (p<0,001). El modelo multivariado incluyó sexo y ADCt, con sensibilidad de 0,95 y especificidad 0,87 para predecir meduloblastoma. Podemos concluir que la medición de ADC ayuda a diferenciar tumores de distinta celularidad como el meduloblastoma y el ependimoma.

Extra-Axial Cerebello-Pontine Angle Medulloblastoma

Medulloblastoma is the most common central nervous system tumor in children. Extraaxial medulloblastomas, especially tumors with no connection to the brain stem or cerebellum are extremely rare. We report a case of a 3-year-old patient, who presented with a history of subacute headache and vomiting. After performing a head computed tomography scan, a mass was detected in the left cerebello-pontine angle, along with concomitant hydrocephalus. The treatment was total resection of the tumor. Despite the fact that extra-axial medulloblastomas are extremely rare, this differential diagnosis should be included in the management of pediatric patients who present with posterior fossa tumors.

Meduloblastoma é o tumor do sistema nervoso central mais comum em crianças. Meduloblastomas extra-axiais, especialmente tumores sem conexão com o tronco encefálico ou cerebelo, são extremamente raros. Relatamos o caso de uma paciente de 3 anos de idade, que apresentou um histórico de cefaleia subaguda e vômitos. Por meio de um exame de tomografia computadorizada, foi identificada uma massa no ângulo ponto-cerebelar esquerdo, acompanhada de hidrocefalia. O tratamento foi resseção total do tumor. Apesar de meduloblastomas extra-axiais serem extremamente raros, este diagnóstico diferencial deve ser incluído no manejo de pacientes pediátricos que apresentem tumores da fossa posterior.

Análise de sobrevida e fatores prognósticos de pacientes pediátricos com tumores cerebrais / Analysis of survival and prognostic factors of pediatric patients with brain tumor

OBJETIVOS: Realizar análise de sobrevida e avaliar, através de análise multivariada, a influência de diversas variáveis na sobrevida, definindo fatores prognósticos de pacientes pediátricos com tumores do sistema nervoso central (SNC) tratados em um único centro. MÉTODOS: Analisamos, retrospectivamente, a sobrevida de 103 crianças portadoras de tumores cerebrais primários, diagnosticadas consecutivamente no período entre janeiro de 2000 e dezembro de 2006. Análise multivariada de fatores influenciando a sobrevida global por regressão de Cox foi usada para definir possíveis fatores prognósticos. RESULTADOS: A mediana e a média de idade foram de 7,2 e 7,6 anos. Houve predominância do sexo masculino (relação 1,22:1). A maioria dos pacientes tinha meduloblastoma ou tumores neuroectodérmicos primitivos (PNET, 38 por cento) ou astrocitomas de baixo grau (18 por cento). As topografias mais comuns foram cerebelar (49 por cento) e tronco cerebral (21 por cento). A sobrevida, 5 anos após o diagnóstico, foi de 84 por cento para astrocitomas de baixo grau e 51 por cento para meduloblastomas e PNET. Fatores prognósticos para a sobrevida global foram histopatológico (astrocitomas de alto grau e ependimomas, razão de risco entre 3,7 e 3,9), cirurgia (razão de risco 0,5 para tumores completamente ressecados) e radioterapia (razão de risco 0,5 para pacientes que receberam radioterapia). CONCLUSÕES: A sobrevida global de pacientes pediátricos com tumores cerebrais neste estudo é comparável àquela dos registros populacionais dos Estados Unidos e Europa. Os fatores de prognóstico definidos para sobrevida global também se assemelham àqueles previamente publicados.

OBJECTIVES: To estimate survival and evaluate prognostic factors of pediatric patients with central nervous system (CNS) tumors treated in a single center. METHODS: Retrospective analysis of survival of 103 children with primary brain tumors diagnosed consecutively from January 2000 to December 2006. Cox regression was used for multivariate analysis of factors that affect overall survival to define possible prognostic factors. RESULTS: Median and mean ages were 7.2 and 7.6 years. There was a male predominance (1.22:1). Most patients had medulloblastomas or primitive neuroectodermal tumors (PNET, 38 percent), or low-grade astrocytomas (18 percent). The anatomic site of most tumors was the cerebellum (49 percent) and the brain stem (21 percent). Five-year survival after diagnosis was 84 percent for low-grade astrocytomas and 51 percent for medulloblastomas and PNET. Prognostic factors for overall survival were histopathological type (high-grade astrocytomas and ependymomas; hazard ratio = 3.7 to 3.9), surgery (hazard ratio of 0.5 for completely resected tumors) and radiotherapy (hazard ratio of 0.5 for patients who underwent radiotherapy). CONCLUSIONS: Overall survival of pediatric patients with brain tumors in this study was similar to that found in populations of the United States and Europe. The prognostic factors defined for overall survival are also similar to those published in previous studies.

Meduloblastoma nodular: achados de imagem de uma rara variante: relato de caso / Medulloblastoma with extensive nodularity: imaging findings of a rare variant: a case report

Meduloblastoma é o tumor maligno do sistema nervoso central mais comum na faixa etária pediátrica, bem como o tumor primário mais comum na fossa posterior em crianças, apresentando-segeralmente entre 5 e 12 anos de idade. O quadro clínico é caracterizado principalmente por hipertensãointracraniana e ataxia. O meduloblastoma nodular, relatado a seguir, é um raro subtipo que acomete crianças mais jovens, habitualmente menores de três anos, porém com melhor prognóstico. Apresenta-se tipicamente como lesão cística em fossa posterior, com componentes sólidosnodulares que realçam ao contraste, agregados em ôcacho de uvaõ. Este achado de imagem pode sugerir o diagnóstico pré-operatório correto.

Medulloblastoma is the most common malignant central nervous system tumor in pediatric patients and the most common primary tumor in the posterior fossa in children, most manifest in patients 5-12 years of age. Clinical features are mainly characterized byintracranial hypertension and ataxia. The authors present a case of medulloblastoma with extensive nodularity, a rare variant which affects younger age usually under three years, with more favorable prognosis. It is typically a cystic lesion in the posterior fossa with solid nodular components that enhance after contrast, like ôbunchof grapesõ clusters. Preoperative diagnosis could be suggested by this finding.

Meduloblastoma: correlação entre ressonância magnética convencional, difusão e espectroscopia de prótons / Medulloblastoma: correlation among findings of conventional magnetic resonance imaging, diffusion-weighted imaging and proton magnetic resonance spectroscopy", "_i": "en

OBJETIVO: Correlacionar os achados de ressonância magnética convencional, difusão e espectroscopia de prótons nos meduloblastomas, e compará-los aos dados da literatura. MATERIAIS E MÉTODOS: Análise retrospectivade exames de ressonância magnética pré-operatórios de nove pacientes na faixa pediátrica com diagnóstico histológico de meduloblastoma (oito desmoplásicos e um de células gigantes). Foram considerados dados demográficos e características do tumor como localização, característica morfológica, intensidade de sinal, realce, disseminação e achados na difusão e espectroscopia. RESULTADOS: Na maioria dos casos os tumores apresentaram epicentro no vermis cerebelar (77,8%), sendo predominantemente sólido (88,9%), com hipossinal nas seqüências ponderadas em T1 e iso/hipersinal nas seqüências ponderadas em T2 e FLAIR, realce heterogêneo (100%), sinais de disseminação/extensão tumoral (77,8%) e restrição à movimentação das moléculas de água (100%). A espectroscopia de prótons pela técnica STEAM (n = 6) demonstrou redução da relação Naa/Cr (83,3%) e aumento de Co/Cr (100%) e mI/Cr (66,7%), e pela técnica PRESS (n = 7) evidenciou pico de lactato (57,1%). CONCLUSÃO: O conjunto dos achados macroscópicosobtidos pela ressonância magnética, somado às características bioquímicas dos meduloblastomas, têm sido úteis na tentativa de diferenciação entre os principais tumores da fossa posterior.

OBJECTIVE: To correlate imaging findings of medulloblastomas at conventional magnetic resonance imaging, diffusion-weighted imaging and proton magnetic resonance spectroscopy, comparing them with data in the literature. MATERIALS AND METHODS: Preoperative magnetic resonance imaging studies of nine pediatric patients with histologically confirmed medulloblastomas (eight desmoplastic medulloblastoma, and one giant cell medulloblastoma) were retrospectively reviewed, considering demographics as well as tumorscharacteristics such as localization, morphology, signal intensity, contrast-enhancement, dissemination, anddiffusion-weighted imaging and spectroscopy findings. RESULTS: In most of cases the tumors were centeredin the cerebellar vermis (77.8%), predominantly solid (88.9%), hypointense on T1-weighted images andintermediate/hyperintense on T2-FLAIR-weighted images, with heterogeneous enhancement (100%), tumor dissemination/extension (77.8%) and limited water molecule mobility (100%). Proton spectroscopy acquiredwith STEAM technique (n = 6) demonstrated decreased Naa/Cr ratio (83.3%) and increased Co/Cr (100%)and mI/Cr (66.7%) ratios; and with PRESS technique (n = 7) demonstrated lactate peak (57.1%). CONCLUSION: Macroscopic magnetic resonance imaging findings in association with biochemical features of medulloblastomas have been useful in the differentiation among the most frequent posterior fossa tumors. Keywords: Medulloblastoma; Infratentorial neoplasms; Pediatric brain tumors; Magnetic resonance imaging;Diffusion-weighted magnetic resonance imaging; Magnetic resonance spectroscopy.

Meduloblastoma, caracterización de los últimos 10 años en el Hospital Guillermo Grant Benavente, Concepción / Meduloblastoma, characterization in the last 10 years in Guillermo Grant Benavente Hospital, Concepción

Meduloblastoma, tumor maligno del SNC de origen discutido pero se admite en células neuroepiteliales germinales del techo del cuarto ventrículo. Incidencia 5,7/1.000.000 niños de 0-14 años. Corresponde a un 15-20 por ciento de todos los tumores intracraneales infantiles, más frecuentes en hombres con peak en primera década y 20-30 años. Tiene mal pronóstico con 56 por ciento sobrevida a 5 años. Objetivo: caracterizar pacientes diagnosticados de meduloblastoma en últimos 10 años. Materiales y métodos: Estudio descriptivo, observacional de prevalencia, se analizaron todos los diagnósticos histológicos de Meduloblastoma entre 1/08/95 y 31/07/05 en Patología Hospital Clínico Regional Concepción. Resulados: Nuestro universo fueron 17 pacientes con 64,7 hombres con promedio edad 17,76 años con desviación estándar de 16.82. Un 70,6 por ciento fueron pediátricos y 29,4 por ciento mayores de 15 años. Un 29,4 por ciento presentaron sólo cefalea al diagnóstico. El tratamiento fue en 88,2 por ciento cirugía total más radioterapia y quimioterapia. Desde 1995 hasta 2000 se presentaron sólo 35,29 por ciento de los casos de los últimos 10 años con promedio de edad 23,83 años y desviación estándar de 23,95 con 83,3 por ciento hombres y 16,7 por ciento mujeres. En cambio en quinquenio entre 2000 y 2005 corresponden a 64,71 por ciento de todos los casos con promedio de edad de 14,45 por ciento años y desviación estándar de 11 con 58,3 por ciento de hombres y 41,6 por ciento mujeres. Esto demuestra no sólo el aumento de casos en los últimos 5 años, sino también de aumento de casos en mujeres. En 83,3 por ciento se realizó acceso clásico suboccipital. Un 52,9 por ciento de pacientes con meduloblastoma estaba fallecido a 10 años. La sobrevida promedio de pacientes fallecidos por meduloblastoma fue de 14,22 meses con desviación estándar de 12,97.

Meduloblastoma, is a malignant tumor of the CNS of discussed origin but it is admitted in germinal neuroepiteliales cells of the ceiling of the fourth ventricle. Incidence 5,7/1.000.000 children of 0-14 years. It corresponds to a 15-20 percent of all the infantile intracraneles tumor, but it frequents in men with peak in first decade and 20-30 years. It has bad I foretell with 56 percent sobrelife to 5 years. Objective: to characterize patients diagnosed of meduloblastoma in last 10 years. Material and methods: Cross-sectional, descriptive and observational study. We analyzed all diagnose histologic of Meduloblastoma between 1/08/05 and 31/07/05 in Pathology Clinical Hospital Regional Concepciòn. Results: Our universe men with average were 17 patients with 64.7 percent age 17.76 years with s.d. 16,,82. A 70,6 percent were pediatrics and greater 29,4 percent older than15 years. A 29,4 percent presented only migraine at diagnose. Th treatment was in 88,2 percent total surgery plus radiotherapy and chemotherapy. Since 1995 up to 2000 appeared only 35.29 percent of the cases of last the 10 years from the total with 23.83 years and s.d. 23.95 83,3 percent men and 16.7 percent women. However in quinquennium between 2000 and 2005 correspond to 64.71 percent of all cases 14.45 years and d.s. 11 with 58,3 percent of men and 41,6 percent women. This demosnstrate not only a increase in cases, but also an increase in the number of women. In 83,3 percent classic access was made suboccipital. A 52,9 percent of patients with meduloblastom died to 10 years. The survival average of patients who died by Meduloblastoma was of 14.22 months with s.d. 12.97.

Does c-erbB-2 expression have a role in medulloblastoma prognosis?

The prognosis of patients with medulloblastoma has remained same for the last two decades. This study evaluated the role of c-erbB-2 expression in medulloblastoma as a prognostic marker. Fifty cases of medulloblastomas were investigated for the expression of c-erbB-2 protein using immunohistochemistry. The expression of c-erbB-2 was correlated with age, histology and disease-free survival (DFS). Thirty-five (70%) tumors were c-erbB-2 positive. Immunoreactivity for c-erbB-2 receptor was observed as mixed cytoplasmic and membrane positivity of tumour cells. The mean DFS in c-erbB-2 positive cases was 19.81 months compared to 48.33 months in c-erbB-2 negative cases. c-erbB-2 positivity was found to be an independent predictor of poor outcome in medulloblastoma (p value < 0.05). No correlation of c-erbB-2 expression was observed with the age of patient and the histological type of tumour. Additionally, c-erbB-4 expression was also evaluated in these tumours. Thirty-three cases showed co-expression of c-erbB-2 and c-erbB-4 proteins. However, c-erbB-4 expression alone was not associated with poor outcome, whereas its co-expression with c-erbB-2 was associated with shorter DFS (p < 0.05).

Accuracy of cytologic diagnosis of central nervous system tumours in crush preparation.

The aim of this study was to assess the usefulness and accuracy of cytologic smears by making crush preparation as a diagnostic method, in central nervous system tumors. 278 patients with central nervous system tumors were investigated. In 98 cases, material was obtained intraoperatively during craniotomy and in 180 cases stereotactic biopsies were done. In all the cases crush preparations were made, and cytologic diagnosis was correlated with final histologic diagnosis. 244 out of 278 patients showed correlation with histopathological diagnosis. So, in present study diagnostic accuracy was 87.76%. In 18 cases no definite diagnosis was made due to inadequate material. Majority of the patients were in age group 31 to 40 years (72 cases). The youngest patient was three years old and the eldest was 87 years old. The most common tumor in intracranial cavity was astrocytoma (56.68%), followed by meningioma (6.88%), medulloblastoma (5.66%) and ependymoma (5.56%). The most common tumor in intraspinal cavity was ependymoma (38.46%), followed by meningioma (23.07%) and schwannoma (23.07%). In conclusion, crush preparation is an effective, simple, rapid, relatively safe and reliable technique for the diagnosis of central nervous system tumors. Diagnostic accuracy of cytology with final histopathological report is established with accuracy rate of 87.76%.

Is brain SPECT a suitable modality for evaluation of postradiotherapy posterior fossa brain tumours? A comparative evaluation with contrast enhanced computed tomography.

Single photon emission computed tomography (SPECT) of the brain is exquisitely sensitive in detecting viable tumour tissue in the supratentorial region, but its efficacy has not been properly evaluated till date in case of infratentorial posterior fossa tumours. Twenty-four patients with primary posterior fossa brain tumour were included in this study. In each case brain SPECT with 99mTc-glucoheptonate (GHA) was performed for the evaluation of disease status. Contrast enhanced computerised tomography of brain was also performed in all the patients. Brain SPECT was positive in four patients with recurrence of tumour as compared to fifteen cases with computed tomography with a mean GHA retention index 5.26 +/- 1.64. Patients with postradiation gliosis (n=9) showed lower GHA retention index of 1.24 +/- 0.27. This study demonstrates that brain SPECT is not sensitive in detecting recurrence of tumour tissue in infratentorial region, as it is in the supratentorial region, with a sensitivity of 20%, accuracy of 45.83% and negative predictive value of 40% and the chance of any single study coming as false negative is about 80%.

Cerebellar medulloblastoma presenting with skeletal metastasis.

Medulloblastomas are highly malignant brain tumours, but only rarely produce skeletal metastases. No case of medulloblastoma has been documented to have produced skeletal metastases prior to craniotomy or shunt surgery. A 21-year-old male presented with pain in the hip and lower back with difficulty in walking of 3 months' duration. Signs of cerebellar dysfunction were present hence a diagnosis of cerebellar neoplasm or skeletal tuberculosis with cerebellar abscess formation was considered. MRI of brain revealed a lesion in the cerebellum suggestive of medulloblastoma. Bone scan revealed multiple sites of skeletal metastases excluding the lumbar vertebrae. MRI of lumbar spine and hip revealed metastases to all lumbar vertebrae and both hips. Computed tomography-guided biopsy was obtained from the L3 vertebra, which revealed metastatic deposits from medulloblastoma. Cerebrospinal fluid cytology showed the presence of medulloblastoma cells. A final diagnosis of cerebellar medulloblastoma with skeletal metastases was made. He underwent craniotomy and histopathology confirmed medulloblastoma.

Estudo por imagens convencionais e espectroscopia de prótons por ressonância magnética dos tumores da fossa posterior na faixa etária pediátrica / Magnetic resonance imaging and proton magnetic resonance spectroscopy of pediatric posterior fossa tumors

Objetivou-se descrever e comparar os tumores da fossa posterior na faixa etária pediátrica através dos achados das IRM e 1H ERM. Realizou-se seqüências pesadas em T1, T2FLAIR, T1 pós-Gd e PRESS com voxel único no tumor. Encontrou-se 14 casos de meduloblastoma, 8 de astrocitoma pilocítico e 5 de ependimoma. O meduloblastoma diferenciou-se dodemais pela sua localização, isossinal em T2, cistos de pequenas dimensões, maioresrelaçõesCo/Ce Co/NAA. Os ependimomas diferenciaram-se pela extensão pelos forames de Luschka e Magendie e cistos de médias dimensões. Os astrocitoma pilocíticos diferenciaram-se pelo realce anelar, edema perilesional, cistos grandes e maior relação NAA/Cr / This study objetives to describe and compare the pediatric posterior fossa tumors by MRI and 1H MRS. We performed sequences weighted on T1, T2, FLAIR, Gd-T1, and single voxel PRESS technique in the tumor. We found 14 cases of medulloblastoma, 8 of pilocytic astrocytoma and 5 of ependymoma. The medulloblastomas were different due to their localization, their isosignal on T2 sequence, the smallest cysts, higher Cho/Cr and Cho/NAA ratios. The ependymomas were different because their extension to the foramen Luschka and Magendie and medium size cysts. The pilocytic astrocytomas were different due to the anelar gadolinium-enhancement, perilesional edema, the largest cysts and higher NAA/Cr ratio...

Primary Intracranial Atypical Teratoid/Rhabdoid Tumor in a Child: A Case Report

Rhabdoid tumors of the central nervous system are rare malignancies. Primary central nervous system atypical teratoid/rhabdoid tumors (ATT/RhTs) mostly occur during early childhood and are almost invariably fatal. These tumors show similar histological and radiological features to primitive neuroectodermal tumor-medulloblastoma (PNET-MB) but have different biological behaviors. We report a case of primary intracranial ATT/RhT in the posterior cranial fossa of a child. Preoperative radiological diagnosis was PNET-MB, but pathological diagnosis is ATT/ RhT. The case involved a 16-month-old baby boy who presented with severe headache, vomiting, and gait disturbance. He was treated by surgical resection, chemotherapy, and radiotherapy. Despite aggressive therapy, he died 19 months after diagnosis. Clinical, radiological, and histopathological features of primary intracranial ATT/RhT are discussed with a special emphasis on the differential diagnosis from PNET-MB.

Transient mutism following removal of cerebellar tumor in a child

to report a case of cerebellar mutism after surgery for posterior fossa tumour n a child. Mutism after posterior fossa surgery is a well described, although rare entity. Most of these tumours are located in the cerebellar vermis and/or extending to the hemispheres. The authors report a case of cerebellar mutism in a 9-year-old Moroccan boy who underwent surgical removal of a vermian medulloblastoma. The child became mute 24 hours postoperatively. He was fully alert without pyramidal signs and without lower cranial nerve palsies. His psychiatric examination was normal. The postoperative computed tomography images revealed nothing remarkable. He was mute for three weeks. Cerebellar mutism should be recognized as an important side effect of surgery

Medulloblastomas of the cerebellopontine angle.

It is unusual for a medulloblastoma to occur in the cerebellopontine angle (CPA). Four of the total 63 cases of medulloblastoma managed in our department between 1988 to 1998, presented with a mass in the cerebellopontine angle. There were two children amongst these four patients, aged eight and nine years. The other two patients were young adults. Three patients had primary CPA medulloblastoma, while the fourth case had a recurrence in this region, following the excision of the primary vermian tumour. All the four cases were managed by gross total microsurgical excision and craniospinal irradiation. One of the two children, developed subfrontal recurrence after 1 year and 8 months of initial treatment, while the other child developed a large recurrence at primary site, within three months of post-operative irradiation. However, the adult patient developed CPA recurrence and subsequent cervical intramedullary metastasis within two and a half years of diagnosis. These three cases succumbed to their disease, between three months to thirty months of their initial management. However the fourth patient, a 20 years female with desmoplastic variant, was well at two and a half years of follow up.

Meduloblastomas: achados clínicos, epidemiológicos e anátomo-patológicos de 28 casos / Medulloblastomas: clinical, epidemiological and pathological findings of 28 cases

Relatamos os achados clínicos, epidemiológicos e anátomo-patológicos de 28 casos de meduloblastomas. Dos 28 pacientes analisados, 22 eram do sexo masculino e seis do sexo feminino. As idades variaram de 1 a 50 anos, com média de 15 anos. Os sinais e sintomas de maior frequência foram cefaléia (64 por cento) e vômitos (64 por cento). Em relação ao tratamento, a maioria dos pacientes foi submetida a ressecção cirúrgica total (n=10) ou a exérese parcial (n=7). Com a exceção de um paciente que apresentava meduloblastoma desmoplásico, os demais apresentavam a forma clássica do meduloblastoma. Foi evidenciada uma taxa de recidiva tumoral total de 21 por cento (n=6) em 4 anos de seguimento clínico. A quimioterapia adjuvante parece contribuir para melhor evolução clínica dos pacientes. Estes achados aproximam-se dos encontrados na literatura, contribuindo para a compreensão do comportamento biológico deste tumor.

Neurofisiologia álgica na irritaçäo tentorial: descriçäo de um caso secundário a meduloblastoma / Neurophysiology of pain in tentorial irritation: description of a case secondary to a medulloblastoma

Relatamos o caso de paciente do sexo feminino, com 32 anos de idade, com sintomas álgicos na regiao occipital, compressivos de forte intensidade e com irradiaçao frontal, supraorbitária e orbitária esquerda, relacionada a movimentos de flexao e extensao do pescoço, com característica lancinante e duraçao de até 9 segundos. A investigaçao radiológica, clínica, neurocirúrgica e neuropatológica evidenciou um meduloblastoma que aderia à membrana tentorial promovendo espessamento e compressao das estruturas venosas desta regiao. Atribuímos ao estímulo mecânico sobre estas estruturas vasculares tentoriais as manifestaçoes álgicas envolvendo as conexoes entre o trigêmeo e os primeiros segmentos medulares cervicais.

Medulloblastoma--a retrospective analysis.

A retrospective review of 45 patients was undertaken at the All India Institute of Medical Sciences to assess the outcome and prognostic factors for these patients who received post operative radiotherapy with or without chemotherapy for medulloblastoma. The median age at diagnosis was 11 years, with 34 males and 11 female patients. Thirty four tumours were confined to midline structures, and 11 were localised to one cerebellar hemisphere or involved midline and lateral structures. Complete macroscopic removal was achieved in 24 patients and subtotal removal in 21 patients. Forty one patients underwent craniospinal irradiation and 27 patients received adjuvant chemotherapy. Median overall and disease free survival was 57 and 31 months respectively and 3 year overall survival was 76%. The addition of adjuvant chemotherapy was a significant factor for disease free survival (p = 0.01) whereas extent of surgery (total vs subtotal, p = 0.01) was a significant factor for overall survival only. Eleven patients developed recurrent disease, with ten relapsing first in the posterior fossa.

Análise e fatores prognósticos do meduloblastoma e sua forma desmoplásica / Analysis and prognostic factors of the medulloblastomas and desmoplasic medulloblastomas

O Meduloblastoma cerebelar, tumor neuroectodérmico primitivo do sistema nervoso central, tem origem no véu medular posterior medial do vermis cerebelar ou, nos casos laterais, na camada granular externa de Obersteimer dos hemisférios cerebelosos. É caracterizado por grande controvérsia na literatura. Dentre suas variantes morfológicas, verifica-se o meduloblastoma desmoplásico, descrito por Rubinstein, em substituiçao ao sarcoma aracnóideo cerebelar de Forster & Gagel, de topografia predominantemente hemisférica, consistência fibrótica, padrao histológico rico em reticulina, incidência maior no adulto, e menor agressividade oncobiológica. Um tipo destes tumores, com melhor prognóstico, é o meduloblastoma desmoplásico do adulto, de topografia lateral, com evoluçao pré-operatória mais longa. A radioterapia de todo neuroeixo, com dose maior ou igual a 5500 rads na fossa posterior participa como fator importante de melhor prognóstico nestes tumores. Recentemente, a quimioterapia vem oferecendo melhores resultados como tratamento adjuvante associado pré ou pós-radioterapia no meduloblastoma. Finalmente, depreende-se dos dados retirados da literatura pela similitude entre o meduloblastoma clássico e o desmoplásico, em relaçao ao quadro clínico e natureza histológica, destacando a maior sobrevida aos 2 e 5 anos neste último, nao justificando tratamento diferenciado em relaçao ao primeiro.