Single-Base Gene Variants in MIR-146A and SCN1A Genes Related to the Epileptogenic Process in Drug-Responsive and Drug-Resistant Temporal Lobe Epilepsy-A Preliminary Study in a Brazilian Cohort Sample.

The drug-resistant temporal lobe epilepsy (TLE) has recently been associated with single nucleotide variants (SNVs) in microRNA(miR)-146a (MIR-146A) (rs2910164) and Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) (rs2298771 and rs3812718) genes. Moreover, no studies have shown an association between these SNVs and susceptibility to drug-resistant and drug-responsive TLE in Brazil. Thus, deoxyribonucleic acid (DNA) samples from 120 patients with TLE (55 drug-responsive and 65 drug-resistant) were evaluated by real-time polymerase chain reaction (RT-PCR). A total of 1171 healthy blood donor individuals from the Online Archive of Brazilian Mutations (ABraOM, from Portuguese Arquivo Brasileiro On-line de Mutações), a repository containing genomic variants of the Brazilian population, were added as a control population for the studied SNVs. MIR-146A and SCN1A relative expression was performed by quantitative RT-PCR (qRT-PCR). The statistical analysis protocol was performed using an alpha error of 0.05. TLE patient samples and ABraOM control samples were in Hardy-Weinberg equilibrium for all studied SNVs. For rs2910164, the frequencies of the homozygous genotype (CC) (15.00% vs. 9.65%) and C allele (37.80% vs. 29.97%) were superior in patients with TLE compared to controls with a higher risk for TLE disease [odds ratio (OR) = 1.89 (95% confidence interval (95%CI) = 1.06-3.37); OR = 1.38 (95%CI = 1.04-1.82), respectively]. Drug-responsive patients also presented higher frequencies of the CC genotype [21.81% vs. 9.65%; OR = 2.58 (95%CI = 1.25-5.30)] and C allele [39.09% vs. 29.97%; OR = 1.50 (95%CI = 1.01-2.22)] compared to controls. For rs2298771, the frequency of the heterozygous genotype (AG) (51.67% vs. 40.40%) was superior in patients with TLE compared to controls with a higher risk for TLE disease [OR = 2.42 (95%CI = 1.08-5.41)]. Drug-resistant patients presented a higher AG frequency [56.92% vs. 40.40%; OR = 3.36 (95%CI = 1.04-17.30)] compared to the control group. For rs3812718, the prevalence of genotypes and alleles were similar in both studied groups. The MIR-146A relative expression level was lower in drug-resistant compared to drug-responsive patients for GC (1.6 vs. 0.1, p-value = 0.049) and CC (1.8 vs. 0.6, p-value = 0.039). Also, the SCN1A relative expression levels in samples from TLE patients were significantly higher in AG [2.09 vs. 1.10, p-value = 0.038] and GG (3.19 vs. 1.10, p-value < 0.001) compared to the AA genotype. In conclusion, the rs2910164-CC and rs2298771-AG genotypes are exerting significant risk influence, respectively, on responsive disease and resistant disease, probably due to an upregulated nuclear factor kappa B (NF-kB) and SCN1A loss of function.

The Role of MRI in the Diagnosis of Spinal Cord Tumors.

Spinal cord tumors are uncommon, and its multiple representatives not always have pathognomonic characteristics, which poses a challenge for both patients and caring physicians. The radiologist performs an important role in recognizing these tumors, as well as in differentiating between neoplastic and non-neoplastic processes, supporting clinical and surgical decision-making in patients with spinal cord injury. Magnetic Resonance Imaging (MRI) assessment, paired with a deep understanding of the various patterns of cord involvement allied to detailed clinical data can provide a diagnosis or significantly limit the differential diagnosis in most cases. In this article, we aim to review the most common and noteworthy intramedullary and extramedullary spinal tumors, as well as some other tumoral mimics, with an emphasis on their MRI morphologic characteristics.

Gliosarcomas: magnetic resonance imaging findings.

BACKGROUND: Central nervous system (CNS) gliosarcoma (GSM) is a rare primary neoplasm characterized by the presence of glial and sarcomatous components. OBJECTIVE: In this report, we describe the clinical and neuroimaging aspects of three cases of GSM and correlate these aspects with pathological findings. We also provide a brief review of relevant literature. METHODS: Three patients were evaluated with magnetic resonance imaging (MRI), and biopsies confirmed the diagnosis of primary GSM, without previous radiotherapy. RESULTS: The analysis of conventional sequences (T1, T1 after contrast injection, T2, Fluid attenuation inversion recovery, SWI and DWI/ADC map) and advanced (proton 1H MR spectroscopy and perfusion) revealed an irregular, necrotic aspect of the lesion, peritumoral edema/infiltration and isointensity of the solid component on a T2-weighted image. These features were associated with irregular and peripheral contrast enhancement, lipid and lactate peaks, increased choline and creatine levels in proton spectroscopy, increased relative cerebral blood volume (rCBV) in perfusion, multifocality and drop metastasis in one of the cases. CONCLUSION: These findings are discussed in relation to the general characteristics of GSM reported in the literature.

The single nucleotide variant n.60G>C in the microRNA-146a associated with susceptibility to drug-resistant epilepsy.

OBJECTIVE: The aim of this study was to evaluate single nucleotide variants (SNVs) n.-411A > G (rs57095329) and n.60 G > C (rs2910164) in microRNA (miR)-146a, related to suppressing of TRAF6 with risk for epilepsy, as well as miR-146a and TRAF6 levels. METHODS: DNAs were extracted from epileptogenic tissues and blood leukocytes from drug-resistant epilepsy patients and healthy-individuals, respectively. Genotypes were identified by real-time PCR. Hardy-Weinberg equilibrium (HWE) and Fisher or X2 tests evaluated the difference between groups. The disease risk was assessed by odds ratio (OR) with 95 % confidence interval (95 %CI). The prognostic impact on probability seizure-free survival (PSF) was evaluated by Kaplan-Meier and log-rank tests. RESULTS: For rs57095329 both control and patient samples were not in HWE (p < 0.05) and the genotypes prevalence was similar in patients and controls (p>0.05). For rs2910164, control samples were in HWE (p = 0.61), contrasting with patients (p = 0.03), and similar frequencies of wild-type homozygous (GG) (43.4 % vs. 34.4 %, p = 0.2) and variant (CC) genotypes (8.0 % vs. 6.6 %, p = 0.6) were observed in patients and controls, respectively. However, increased frequency of heterozygous (GC) was observed in patients compared to controls (59.0 % vs. 42.7 %, p = 0.04) with 1.98 (95 %CI=1.09-3.57) risk for epilepsy. The miR-146a expression level in the epileptogenic tissues was lower in the GC (p = 0.02) and CC (p = 0.09) compared to GG genotype. TRAF6 expression level was higher in CC than in GG genotype (p = 0.09). Interestingly, there was an increased frequency of patients harboring GC genotype and less time until surgery compared to patients harboring GG or CC (36.06 % vs. 11.5 %, p = 0.01), confirmed by PSF (p = 0.04). CONCLUSIONS: The GC genotype for SNV rs2910164 appears associated with susceptibility to drug-resistant epilepsy due to the decreased MIR146a expression, favoring NF-kB pathway through TRAF6.

Primary infratentorial diffuse large b-cell lymphoma: a challenging diagnosis in an immunocompetent patient.

We describe the case of a female patient, 52 years old, with dizziness and left motor incoordination for 2 weeks. Brain MRI magnetic resonance imaging) revealed a hyperintense lesion on T2-weighted images, without restricted diffusion, in the left middle cerebellar peduncle. Spectroscopy demonstrated peak of lipids and perfusion did not show any elevation in relative cerebral blood volume (rCBV). The patient underwent an open biopsy and resection, and the diagnosis of diffuse large B-cell lymphoma (DLBCL) was established. The patient received intravenous dexamethasone with symptoms remission, followed by four cycles of methotrexate plus cytarabine. After 3 months, the patient returned with decreased consciences level and a new MRI revealed a right superior frontal gyrus lesion with features suggesting a lymphomatous lesion. The patient died five days after her relapse.

Pituitary carcinoma: A case report and discussion of potential value of combined use of Ga-68 DOTATATE and F-18 FDG PET/CT scan to better choose therapy.

BACKGROUND: Pituitary carcinoma is extremely rare and carries a very poor prognosis. In most cases, apparently indolent tumors become malignant; however, there are no satisfactory biomarkers for predicting tumor behavior. Thus, scientific advances in the search for new biological markers, diagnostic methods, and therapies are needed to improve the prognosis of these patients. CASE DESCRIPTION: We report the case of a woman with initial diagnosis of nonfunctioning pituitary adenoma which evolved to carcinoma after 4 years. Diagnosis was confirmed after biopsy of metastatic pulmonary nodules, in which neoplastic cells were immunohistochemically positive for chromogranin, synaptotophysin, prolactin, and growth hormone. Investigation with conventional somatostatin receptor scintigraphy, positron emission tomography-computed tomography (PET-CT) with Ga-68 DOTATATE and F-18 fluorodeoxyglucose (FDG) are showed. During temozolomide therapy, our patient had severe pancytopenia resulting in death from generalized infection despite 10 days of intensive care. CONCLUSION: The present case of an aggressive pituitary carcinoma rising from a typical adenoma illustrates the importance of developing new prognostic biomarkers in these cases. In addition to demonstrating a serious side effect with the use of temozolomide, our case report suggests that the combined use of Ga-68 DOTATATE and F-18 FDG PET-CT scan may scale somatostatin receptors vs. tumor aggressiveness, therefore, helping to better choose the therapy for aggressive pituitary tumors.

Gliosarcomas: magnetic resonance imaging findings / Gliossarcomas: achados de ressonância magnética

Abstract Background: Central nervous system (CNS) gliosarcoma (GSM) is a rare primary neoplasm characterized by the presence of glial and sarcomatous components. Objective: In this report, we describe the clinical and neuroimaging aspects of three cases of GSM and correlate these aspects with pathological findings. We also provide a brief review of relevant literature. Methods: Three patients were evaluated with magnetic resonance imaging (MRI), and biopsies confirmed the diagnosis of primary GSM, without previous radiotherapy. Results: The analysis of conventional sequences (T1, T1 after contrast injection, T2, Fluid attenuation inversion recovery, SWI and DWI/ADC map) and advanced (proton 1H MR spectroscopy and perfusion) revealed an irregular, necrotic aspect of the lesion, peritumoral edema/infiltration and isointensity of the solid component on a T2-weighted image. These features were associated with irregular and peripheral contrast enhancement, lipid and lactate peaks, increased choline and creatine levels in proton spectroscopy, increased relative cerebral blood volume (rCBV) in perfusion, multifocality and drop metastasis in one of the cases. Conclusion: These findings are discussed in relation to the general characteristics of GSM reported in the literature.

Resumo Introdução: O gliossarcoma (GSM) do sistema nervoso central (SNC) é uma neoplasia primária rara, caracterizada pela presença de componentes gliais e sarcomatosos. Objetivo: Nosso objetivo é descrever os aspectos clínicos e de neuroimagem de três casos com este diagnóstico e correlacioná-los com os achados patológicos. Também foi realizada uma breve revisão da literatura relevante. Métodos: Três pacientes foram avaliados por ressonância magnética (RM), e biópsias confirmaram o diagnóstico de GSM primário, sem radioterapia prévia. Resultados: Foram analisadas as sequências convencionais (T1, T1 após injeção de contraste, T2, FLAIR-fluid attenuation inversion recovery, SWI, DWI/mapa ADC) e as sequências avançadas (espectroscopia de prótons 1H e perfusão), observando-se aspecto necrótico e irregular da lesão, edema/infiltração peritumoral, isointensidade do componente sólido em T2, associada a realce irregular e periférico pelo meio de contraste, pico de lípides e de lactato e aumento dos níveis de colina e creatina na espectroscopia de prótons, aumento do volume sanguíneo cerebral relativo (rCBV) na perfusão, multifocalidade e "drop" mestástase em um dos casos. Conclusão: O presente estudo descreve características do GSM, discutindo as informações na literatura científica, ilustrando algumas particularidades desses tumores.

EGFR, p53, IDH-1 and MDM2 immunohistochemical analysis in glioblastoma: therapeutic and prognostic correlation.

We studied 36 glioblastoma cases at HC-UNICAMP from 2008 to 2012 and classified the immunohistochemical distribution of the wild-type epidermal growth factor receptor (EGFR), mutated forms of p53 protein and isocitrate dehydrogenase-1 (IDH-1) and murine double protein 2 (MDM2). Immunostaining findings were correlated with clinical data and response to treatment (surgery, chemotherapy and radiotherapy). About 97% of the tumors were primary, most of them localized in the frontal lobe. Mean time free of clinical or symptomatic disease and free time of radiological disease were 7.56 and 7.14 months, respectively. We observed a significant positive correlation between expressions of p53 and MDM2, EGFR and MDM2. Clinical, radiological and overall survivals also showed a significant positive correlation. p53 staining and clinical survival showed a significant negative correlation. The current series provides clinical and histopathological data that contribute to knowledge on glioblastoma in Brazilians.

Papillomas and carcinomas of the choroid plexus: histological and immunohistochemical studies and comparison with normal fetal choroid plexus.

BACKGROUND: Choroid plexus tumors are rare. Results on immunohistochemical features are scanty and controversial even regarding normal plexus. METHOD: Thirteen cases of choroid plexus tumors and five samples of normal fetal choroid plexus were submitted to immunohistochemical study using a panel of epithelial, neuronal and stromal markers. RESULTS/CONCLUSIONS: Relevant histological findings were presence of clear cells in 3/5 papillomas (PP) and 7/8 carcinomas (CA) and all 5 fetal plexuses; rhabdoid cells, desmoplasia and vascular proliferation were found respectively in 3, 4 and 5 cases out of 6 poorly differentiated CA and were absent in PP and well differentiated CA. Pancytokeratin AE1/AE3 was strongly positive in all 13 cases, even in the undifferentiated component of poorly differentiated CA, where reactivity was focal in 3 and diffuse in 3 cases. Low molecular weight cytokeratin (35betaH11) was not expressed in any of the 8 CA, but was present in all 5 PP. In 4 of 6 poorly differentiated CA there was reactivity for smooth muscle actin (1A4) in 10 to 30% of the cells. This was true also for one case lacking rhabdoid cells. Laminin was undetectable in all 6 cases of poorly differentiated CA but was present in 4 PP and 2 well differentiated CA. All 5 fetal plexuses expressed GFAP.

Long term follow-up in a patient with papillary glioneuronal tumor.

We report a case of a young female patient with a rare and recently described form of brain tumor. This patient had a history of headache, hemiparesis and motor simple partial seizures. Her investigation revealed a brain tumor involving the left frontal and parietal lobes. The radiological images showed a cystic mass with multiple nodular masses and a rim of contrast enhancement extending from the right parietal cortex to the ipsilateral ventricle and corpus callosum. The patient underwent gross resection of the lesion and the histological analysis of the surgical specimen revealed a pseudopapillary structure formed by delicate vessels intermixed with a fibrillary pattern and bordered by intense astrocytic reaction with Rosenthal fibers. These features correspond to the recently described mixed neuronal-glial neoplasm, the papillary glioneuronal tumor. The patient has been followed for five years since the surgical treatment, without evidence of tumor recurrence, confirming the indolent behavior of this type of tumor.

Hypertrophic pachymeningitis: case report.

Hypertrophic pachymeningits is an unusual cause of neurological symptoms and is often secondary to infections, carcinomatosis or inflammatory diseases. It may also be idiopathic. We report a case of pachymeningitis which was manifested primarily by psychosis and visual loss with optic atrophy and destruction of nasal septum. The patient, a 45 year old woman was submitted to extensive investigation without evidence of any underlying disease. A meningeal biopsy was performed and showed a mostly unspecific inflammatory process with extensive fibrosis of the dura and few early stage granulomas. These findings suggest either neurosarcoidosis or idiopathic hypertrophic pachymeningitis.

Primary infratentorial diffuse large b-cell lymphoma: a challenging diagnosis in an immunocompetent patient

SUMMARY We describe the case of a female patient, 52 years old, with dizziness and left motor incoordination for 2 weeks. Brain MRI magnetic resonance imaging) revealed a hyperintense lesion on T2-weighted images, without restricted diffusion, in the left middle cerebellar peduncle. Spectroscopy demonstrated peak of lipids and perfusion did not show any elevation in relative cerebral blood volume (rCBV). The patient underwent an open biopsy and resection, and the diagnosis of diffuse large B-cell lymphoma (DLBCL) was established. The patient received intravenous dexamethasone with symptoms remission, followed by four cycles of methotrexate plus cytarabine. After 3 months, the patient returned with decreased consciences level and a new MRI revealed a right superior frontal gyrus lesion with features suggesting a lymphomatous lesion. The patient died five days after her relapse.

RESUMO Descrevemos o caso de uma paciente do sexo feminino, de 52 anos, apresentando história de tontura e perda da coordenação motora do lado esquerdo há duas semanas. A RM (ressonância magnética) de crânio revelou uma lesão hiperintensa nas imagens ponderadas em T2, sem restrição à difusão, localizada no pedúnculo cerebelar médio esquerdo. A espectroscopia demonstrou pico de lipídeos, sem elevação do volume sanguíneo cerebral relativo (rCBV) à perfusão. A paciente foi submetida à biópsia a céu aberto, estabelecendo o diagnóstico de linfoma difuso de grandes células B (DLBCL). Houve remissão dos sintomas após o início do tratamento com dexametasona endovenosa, seguida de quatro ciclos de metotrexato associado à citarabina. Após três meses, a paciente retornou apresentando rebaixamento do nível de consciência, e a RM de crânio revelou uma nova lesão de origem linfomatosa no giro frontal superior direito. A paciente faleceu após cinco dias.

Pleomorphic xanthoastrocytoma: magnetic resonance imaging findings in a series of cases with histopathological confirmation.

Pleomorphic xanthoastrocytoma (PXA) is a rare glioma. This paper aimed to analyze magnetic resonance imaging (MRI) characteristics in a series of patients diagnosed with PXA. We analyzed MRI findings in 9 patients with histopathologic diagnosis of PXA in our department over the last 12 years. The mean age of patients was 27.3 years. Cortical location was observed in all cases. The lesion imaging was solid-cystic in six cases. In eight cases, the solid component presented hypo or isointense on T1 and iso or hyperintense on T2. Contrast enhancement in the solid component was observed in eight cases. The observed imaging pattern of PXA was superficial location with leptomeningeal involvement, solid-cystic pattern and contrast enhancement in the solid component. We should consider that the association between PXA and other cortical tumors may occur, particularly, with gangliogliomas, which tend to be the main differential diagnosis in MRI.

Melanotic schwannoma of the cervical spine progressing with pulmonary metastasis: case report.

Melanotic schwannoma (MS) is an unusual variant of nerve sheath neoplasm. Only 10% of these tumors will undergo malignant degeneration, with exceedingly rare reported metastasis. We present a 32-year-old woman with a 6-month history of cervical pain and left arm progressive weakness. Neurological examination showed a left upper limb radicular pain, with pyramidal syndrome at C5 level. The magnetic resonance imaging (MRI) study highlighted an intradural extramedullary heterogeneous mass along the spinal cord at the C4-C5 level, slightly hyperintense with T1 and hypointense with T2-weighted sequences, invading the left neural foramen. The patient underwent C3-C5 laminectomy with total resection of a black tumor. In the postoperative period, a patent deficit of shoulder abduction ensued related to the nervous section. Microscopically, compactly fascicles of spindle-shaped cells with pleomorphic and hypercromatic nuclei, dark brown intracellular pigments, as well as some mitotic figures were seen. Immunohistochemical stains for S-100, Human Melanoma Black-45 (HMB-45), and vimentin were positive, with Ki-67 Labelling Index (LI) of 15% compatible with MS. Six months after radiotherapy she presents local recurrence and lung metastatic dissemination of the MS. She underwent left pulmonary segmentectomy, followed by chemotherapy and radiosurgery. The patient developed a febrile neutropenia and worsening of general status, and died after 3 months due to respiratory complications. MS are rare tumors with potential for local recurrence and distal metastasis. Complete surgical resection remains as the treatment of choice, once the uncommon cases with malignant progression shows low response to chemo and radiotherapy.

Cervicomedullary Junction Ependymoma Associated with Neurofibromatosis Type II: Case Report and Literature Review

Neurofibromatosis type II (NF2) is a rare autosomal dominant inherited disease caused by a mutation in chromosome 22q12 and associated with multiple central nervous system tumors. In this paper, we describe a rare case of cervicomedullary junction ependymoma associated with NF2 in a 25-year-old man who underwent surgical treatment with total resection and had a good clinical outcome. We discussed the nuances of the surgical resection and the literature concerning this rare form of presentation of NF2.

Neurofibromatose tipo II (NF2) é uma doença autossômica dominante provocada por uma mutação no cromossomo 22q12, e que está relacionada ao surgimento de múltiplos tumores do sistema nervoso central. Neste artigo, é descrito um caso raro de um paciente com 25 anos de idade submetido ao tratamento cirúrgico de um ependimoma da junção cervicobulbar, com ressecção total "en bloc" e bom resultado clínico. Discutimos as nuances da ressecção cirúrgica, bem como a literatura sobre o tratamento destas lesões raras.

A pituitary adenoma secreting follicle-stimulating hormone with ovarian hyperstimulation: treatment using a gonadotropin-releasing hormone antagonist.

OBJECTIVE: To describe the management of a patient with a pituitary adenoma secreting follicle-stimulating hormone (FSH) associated with ovarian hyperstimulation who was treated with a gonadotropin-releasing hormone (GnRH) antagonist. DESIGN: Case report. SETTING: University teaching hospital. PATIENT(S): A woman of reproductive age with secondary amenorrhea and ovarian hyperstimulation due to a pituitary adenoma secreting FSH, which persisted after transsphenoidal surgery. INTERVENTION(S): Clinical treatment with a GnRH antagonist. MAIN OUTCOME MEASURE(S): A decrease in serum estradiol levels. RESULT(S): During the treatment period, ovarian hyperstimulation decreased as shown by a reduction in estradiol levels and an improvement in the patient's clinical condition and in the ultrasonography parameters. CONCLUSION(S): The GnRH antagonist was found to be effective for the short-term treatment of ovarian hyperstimulation secondary to a pituitary adenoma secreting FSH, thus representing a therapeutic option that should be taken into consideration in such cases.

EGFR, p53, IDH-1 and MDM2 immunohistochemical analysis in glioblastoma: therapeutic and prognostic correlation / Análise imunoistoquímica para EGFR, p53, IDH-1 e MDM2 em glioblastoma: correlação terapêutica e prognóstica

We studied 36 glioblastoma cases at HC-UNICAMP from 2008 to 2012 and classified the immunohistochemical distribution of the wild-type epidermal growth factor receptor (EGFR), mutated forms of p53 protein and isocitrate dehydrogenase-1 (IDH-1) and murine double protein 2 (MDM2). Immunostaining findings were correlated with clinical data and response to treatment (surgery, chemotherapy and radiotherapy). About 97% of the tumors were primary, most of them localized in the frontal lobe. Mean time free of clinical or symptomatic disease and free time of radiological disease were 7.56 and 7.14 months, respectively. We observed a significant positive correlation between expressions of p53 and MDM2, EGFR and MDM2. Clinical, radiological and overall survivals also showed a significant positive correlation. p53 staining and clinical survival showed a significant negative correlation. The current series provides clinical and histopathological data that contribute to knowledge on glioblastoma in Brazilians.

Estudamos 36 casos de glioblastoma acompanhados no HC-UNICAMP de 2008 a 2012 e classificamos a marcação imunoistoquímica da forma selvagem do receptor do fator de crescimento epidérmico (EGFR), formas mutantes da proteína p53 e isocitrato desidrogenase-1 (IDH-1) e proteína murina dupla 2 (MDM2). Os resultados de imunoistoquímica foram correlacionados com dados clínicos e resposta ao tratamento (cirurgia, quimioterapia e radioterapia). Cerca de 97% dos tumores foram primários, grande parte localizada no lobo frontal. O tempo médio livre de doença clínica ou sintomática e o tempo livre de doença radiológica foram de 7.56 e 7.14 meses, respectivamente. Observou-se correlação positiva entre a expressão das proteínas p53 e MDM2, EGFR e MDM2. Sobrevivências clínica, radiológica e global também mostraram correlação positiva e significativa. A expressão para p53 e sobrevivência clínica mostrou correlação negativa. O estudo fornece dados clínicos e histopatológicos que contribuem para o conhecimento sobre glioblastoma em brasileiros.

Abordagem cirúrgica de lesão granulomatosa criptocócica cerebral (criptococoma) em paciente imunocompetente / Surgical Approach to an Immunocompetent Patient's Cerebral Granulomatosis (cryptococcoma)

Acriptococose é a principalmicosequeatingeosistemanervosocentral, sendode distribuição mundial, mais prevalente em países em desenvolvimento. Atualmente, são descritas duas subespécies: Cryptococcus neoformans neoformans, associado à imunossupressão, e Cryptococcus neoformans gattii, em pacientes imunocompetentes. A criptococose do sistema nervoso central parenquimatosa em sua forma granulomatosa, ou criptococoma, é extremamente rara, sendo mais frequente a forma meningítica ou meningoencefalítica. Relatamos o caso de um paciente de 35 anos, não portador da síndrome de imunodeficiência adquirida e imunocompetente, com manifestações clínicas iniciais de cefaleia crônica, hemiparesia progressiva, confusão mental aguda e primeiro episódio de crise convulsiva tônico-clônica generalizada. Hipóteses diagnósticas préoperatórias de neoplasia maligna ou abscesso cerebral. Realizado procedimento cirúrgico, remoção completa da lesão maior, diminuindo o efeito de massa. A lesão foi diagnosticada, através de exame anatomopatológico, como criptococoma, o que torna o caso extremamente raro pelo tamanho da lesão e por ser o paciente imunocompetente. Houve melhora completa do déficit neurológico. O paciente encontra-se em seguimento clínico e tratamento medicamentoso com anfotericina-B.

Cryptococcosis is the main mycosis affecting the central nervous system, with worldwide distribution and higher prevalence in developing countries. Currently, two subspecies are described: Cryptococcus neoformans neoformans (associated with immunosuppression) and Cryptococcus neoformans gattii (in immunocompetent patients). Cryptococcosis of the central nervous system as a parenchymal granuloma or cryptococcoma is extremely rare, contrasting to themuchmore frequentmeningitic form. We report a 35 year-old immunocompetent patient with chronic headache, progressive hemiparesis, acute confusion and first episode of tonic-clonic seizures. Preoperative diagnostic hypotheses were malignancy or abscess. A large mass (5.5 cm) was surgically removed from the right parietal lobe relieving the mass effect. This was later diagnosed by pathological examination as cryptococcoma, an extremely rare case in view of lesion size and its occurrence in an immunocompetent subject. The patient evolved with complete resolution of the neurological deficit and is on amphotericin-B treatment.

Pleomorphic xanthoastrocytoma: magnetic resonance imaging findings in a series of cases with histopathological confirmation / Xantoastrocitoma pleomórfico: achados de ressonância magnética numa série de casos com confirmação histopatológica

Pleomorphic xanthoastrocytoma (PXA) is a rare glioma. This paper aimed to analyze magnetic resonance imaging (MRI) characteristics in a series of patients diagnosed with PXA. We analyzed MRI findings in 9 patients with histopathologic diagnosis of PXA in our department over the last 12 years. The mean age of patients was 27.3 years. Cortical location was observed in all cases. The lesion imaging was solid-cystic in six cases. In eight cases, the solid component presented hypo or isointense on T1 and iso or hyperintense on T2. Contrast enhancement in the solid component was observed in eight cases. The observed imaging pattern of PXA was superficial location with leptomeningeal involvement, solid-cystic pattern and contrast enhancement in the solid component. We should consider that the association between PXA and other cortical tumors may occur, particularly, with gangliogliomas, which tend to be the main differential diagnosis in MRI.

Xantoastrocitoma pleomórfico (PXA) é um glioma raro. Este estudo teve como objetivo analisar aspectos de imagem por ressonância magnética (RM) de uma série de pacientes com diagnóstico de PXA. Foram analisados exames de RM de 9 pacientes com diagnóstico histopatológico de PXA nos últimos 12 anos. A média de idade dos pacientes foi de 27,3 anos. Localização cortical foi observada em todos os casos. Padrão sólido-cístico foi observado em seis casos. Em oito casos, o componente sólido apresentou-se hipo ou isointenso em T1 e iso ou hiperintenso em T2. Foi observada captação de contraste na porção sólida em oito casos. O padrão de imagem observado do PXA foi de localização superficial com envolvimento leptomeníngeo, padrão sólido-cístico e captação de contraste pelo componente sólido. Devemos considerar que a associação entre PXA e outros tumores corticais pode ocorrer, particularmente, com ganglioglioma, que tende a ser o principal diagnóstico diferencial em RM.