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1.
World Neurosurg ; 181: e242-e251, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37838161

RESUMO

BACKGROUND: Sporadic spinal hamartomas in adults are extremely rare tumor-like lesions, without defined guidelines of treatment. The aim of this study is to investigate the peculiar features of this pathologic entity to support a more accurate diagnosis and management. METHODS: A comprehensive and detailed literature review of sporadic spinal hamartomas in adults, including a personal case, was performed. Demographic (sex and age), clinical (presenting symptoms), radiologic and pathologic (size, localization, dural and spinal cord relationship of lesion) features, as well as treatment (time to surgery, extent of resection, perioperative and postoperative complications) and outcome (clinical) data were analyzed. RESULTS: Seven studies, including 7 patients, were eligible for the review. A personal case was also added. Sporadic adult spinal hamartomas equally affect males and females, in a range of age from 18 to 75 years; sensory radicular deficits were detected in all patients at clinical onset; thoracic segment (4/8) of the spine and intradural compartment (6/8) were most involved. All patients underwent surgery and just one experimented postoperative complication; gross total resection was achieved in only 3 patients, mainly in an extradural localization; clinical improvement at last follow-up was reported in all but 1 patient. CONCLUSIONS: Spinal hamartomas in adults may sometimes account for progressive worsening of neurologic symptoms and lead to potentially irreversible neurologic deficit; therefore, prompt and adequate diagnosis and treatment are mandatory. Surgical resection represents the only curative treatment and is indicated for symptomatic lesions to achieve neurologic symptoms restoration or arrest/prevent their progressive deterioration.


Assuntos
Hamartoma , Neoplasias da Medula Espinal , Masculino , Adulto , Feminino , Humanos , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Idoso , Coluna Vertebral , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/cirurgia , Procedimentos Neurocirúrgicos , Complicações Pós-Operatórias/cirurgia , Hamartoma/diagnóstico por imagem , Hamartoma/cirurgia , Resultado do Tratamento , Estudos Retrospectivos
2.
J Clin Med ; 12(18)2023 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-37763026

RESUMO

In this case report, real-time neuropsychological testing (RTNT) and music listening were applied for resections in the left temporal-parietal lobe during awake surgery (AS). The case is based on a 66-year-old with glioblastoma and alterations in expressive language and memory deficit. Neuropsychological assessment was run at baseline (2-3 days before surgery), discharge from hospital (2-3 days after surgery), and follow-up (1 month and 3 months). RTNT was started before beginning the anesthetic approach (T0) and during tumor excision (T1 and T2). At T0, T1, and T2 (before performing neuropsychological tests), music listening was applied. Before AS and after music listening, the patient reported a decrease in depression and anxiety. During AS, an improvement was shown in all cognitive parameters collected at T0, T1, and T2. After the excision and music listening, the patient reported a further decrease in depression and anxiety. Three days post surgery, and at follow-ups of one month and three months, the patient reported a further improvement in cognitive aspects, the absence of depression, and a reduction in anxiety symptoms. In conclusion, RTNT has been useful in detecting cognitive function levels during tumor excision. Music listening during AS decreased the patient's anxiety and depression symptoms.

3.
J Neurosurg ; 138(2): 522-532, 2023 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-35901705

RESUMO

OBJECTIVE: Infradiaphragmatic craniopharyngiomas (ICs) represent a distinct subtype, harboring a sellar-suprasellar origin and generally growing in the extra-arachnoidal space contained by the diaphragma sellae. They have been considered ideal for surgical removal through the transsphenoidal approach since the 1960s. The authors present a multicentric national study, intending to selectively analyze IC behavior and the impact of the transsphenoidal endoscopic endonasal approach (EEA) on surgical outcomes. METHODS: Craniopharyngiomas that were intraoperatively recognized as infradiaphragmatic and removed with standard EEA between 2000 and 2021 at 6 Italian neurosurgical departments were included in the study. Clinical, radiological, and surgical findings and outcomes were evaluated and reviewed. RESULTS: In total, 84 patients were included, with 45.23% identified as pediatric cases and 39.28% as having recurrent tumors. The most common presenting symptoms were endocrine (75%), visual (59.52%), and hypothalamic (26.19%) disorders. ICs were classified as extending below (6 intrasellar and 41 occupying the suprasellar cistern) or above (26 obliterating the anterior recesses of the third ventricle and 11 extending up to the foramina of Monro) the chiasmatic cistern. Gross-total resection (GTR) was achieved in 54 cases (64.28%). Tumor extension above the chiasmatic cistern and calcifications were associated with lower likelihood of GTR. The cumulative rate of postoperative complications was 34.53%, with CSF leak being the most common (14.28%). Endocrine, visual, and hypothalamic functions deteriorated postoperatively in 41/78 patients (52.56%), 5/84 (5.95%), and 14/84 (16.67%), respectively. Twenty-eight patients (33.33%) had recurrence during follow-up (mean 63.51 months), with a mean 5-year progression-free survival (PFS) rate of 58%. PFS was greater in patients who achieved GTR than patients with other extent of resection. CONCLUSIONS: This is the largest series in the literature to describe ICs removed with standard EEA, without the need for additional bone and dural opening over the planum sphenoidale. EEA provides a direct route to ICs, the opportunity to manage lesions extending up to the third ventricle without breaching the diaphragma, and high rates of GTR and satisfactory clinical outcomes. Increased surgical complexity and morbidity should be expected in patients with extensive suprasellar extension and involvement of the surrounding vital neurovascular structures.


Assuntos
Craniofaringioma , Neuroendoscopia , Neoplasias Hipofisárias , Humanos , Criança , Craniofaringioma/diagnóstico por imagem , Craniofaringioma/cirurgia , Craniofaringioma/patologia , Resultado do Tratamento , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/cirurgia , Neoplasias Hipofisárias/patologia , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/cirurgia , Recidiva Local de Neoplasia/patologia , Nariz , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/cirurgia , Estudos Retrospectivos
4.
BMJ Case Rep ; 14(5)2021 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-34059547

RESUMO

Intracranial extension of acquired cholesteatoma is a rare occurrence that can develop secondary to trauma, chronic otitis media or acquired aural cholesteatoma. The most commonly observed symptoms are headache and hearing loss. The authors report on a rare case of intracranial cholesteatoma presenting with atypic symptoms: swelling and temporomandibular joint disorders.


Assuntos
Colesteatoma da Orelha Média , Perda Auditiva , Otite Média , Transtornos da Articulação Temporomandibular , Colesteatoma da Orelha Média/complicações , Colesteatoma da Orelha Média/diagnóstico por imagem , Colesteatoma da Orelha Média/cirurgia , Humanos , Transtornos da Articulação Temporomandibular/diagnóstico , Transtornos da Articulação Temporomandibular/etiologia , Trismo/etiologia
5.
J Neurosurg ; 135(1): 93-102, 2020 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-32886913

RESUMO

OBJECTIVE: In the last 2 decades, the endoscopic endonasal approach in the treatment of clival chordomas has evolved to be a viable strategy to achieve maximal safe resection of this tumor. Here, the authors present a multicentric national study, intending to analyze the evolution of this approach over a 20-year time frame and its contribution in the treatment of clival chordomas. METHODS: Clival chordoma cases surgically treated between 1999 and 2018 at 10 Italian neurosurgical departments were included in this retrospective study. Clinical, radiological, and surgical findings, adjuvant therapy, and outcomes were evaluated and compared according to classification in the treatment eras from 1999 to 2008 and from 2009 to 2018. RESULTS: One hundred eighty-two surgical procedures were reviewed, with an increase in case load since 2009. The endoscopic endonasal transclival approach (EETA) was performed in 151 of 182 cases (83.0%) and other approaches were performed in 31 cases (17%). There was an increment in the use of EETA, neuronavigation, and Doppler ultrasound after 2008. The overall postoperative complication rate was 14.3% (26 of 182 cases) consisting of 9 CSF leaks (4.9%), 7 intracranial hemorrhages (3.8%), 5 cases of meningitis (2.7%), and 5 cerebral ischemic injuries (2.7%). Gross-total resection (GTR) was achieved in 93 of 182 cases (51.1%). Extent of resection (EOR) improved in the second era of the study. Signs and/or symptoms at presentation worsened in 27 cases (14.8%), and the Katz Index worsened in 10 cases (5.5%). Previous treatment, dural involvement, EETA, and intraoperative Doppler ultrasound correlated with GTR. Patients received adjuvant proton beam radiation in 115 of 182 cases (63.2%), which was administered more in the latter era. Five-year progression-free survival (PFS) and overall survival (OS) were 62.3% and 73.5%, respectively. GTR, EETA, proton beam therapy, and the chondroid subtype correlated with a better survival rate. The mean follow-up was 62 months. CONCLUSIONS: Through multicentric data collection, this study encompasses the largest series in the literature of clival chordomas surgically treated through an EETA. An increase in the use of this approach was found among Italian neurosurgical departments together with an improved extent of resection over time. The satisfactory rate of GTR was marked by low surgical morbidity and the preservation of patient quality of life. Surgical outcome was reinforced, in terms of PFS and OS, by the use of proton beam therapy, which was increasingly performed along the period of study.

6.
SAGE Open Med Case Rep ; 8: 2050313X20940532, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32733680

RESUMO

Baló's concentric sclerosis is a rare variant of multiple sclerosis. It belongs to the group of primary inflammatory central nervous system demyelinating diseases having no clear etiology. Peculiar radiological findings on magnetic resonance imaging are alternating rings of demyelinated and myelinated axons resembling an "onion bulb." We report on a case of a patient with cocaine abuse who presented with Balò's-like acute multifocal leukoencephalopathy supported by histological and radiological findings. The abuse of cocaine and its most frequent adulterant, levamisole, may induce ischemic or hemorrhagic stroke and metabolic or multifocal inflammatory leukoencephalopathy. Only a few studies described levamisole-induced leukoencephalopathy mimicking Balò round lesions. Nevertheless, it has not yet been established the correlation between them; it might also be possible that the cocaine/levamisole addiction represents just a coincidence in some of those patients affected by Balò sclerosis disease.

7.
World Neurosurg ; 123: e440-e449, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30500583

RESUMO

BACKGROUND: Pituitary tumors are a heterogeneous group of lesions that are usually benign. Therefore, a proper understanding of the anatomy, physiology, and pathology is mandatory to achieve favorable outcomes. Accordingly, diagnostic tests and treatment guidelines should be determined and implemented. Thus, we decided to perform a multicenter study among Italian neurosurgical centers performing pituitary surgery to provide an actual depiction from the neurosurgical standpoint. METHODS: On behalf of the SINch (Società Italiana di Neurochirurgia), a survey was undertaken with the participants to explore the activities in the field of pituitary surgery within 41 public institutions. RESULTS: Of the 41 centers, 37 participated in the present study. The total number of neurosurgical procedures performed in 2016 was 1479. Most of the procedures were performed using the transsphenoidal approach (1320 transsphenoidal [1204 endoscopic, 53 microscopic, 53 endoscope-assisted microscopic] vs. 159 transcranial). A multidisciplinary tumor board is convened regularly in 32 of 37 centers, and a research laboratory is present in 18 centers. CONCLUSIONS: Diagnosing pituitary/hypothalamus disorders and treating them is the result of teamwork, composed of several diverse experts. Regarding neurosurgery, our findings have confirmed the central role of the transsphenoidal approach, with preference toward the endoscopic technique. Better outcomes can be expected at centers with a multidisciplinary team and a full, or part of a, residency program, with a greater surgical caseload.


Assuntos
Adenoma/cirurgia , Cistos do Sistema Nervoso Central/cirurgia , Craniofaringioma/cirurgia , Procedimentos Neurocirúrgicos/estatística & dados numéricos , Neoplasias Hipofisárias/cirurgia , Adenoma/epidemiologia , Cistos do Sistema Nervoso Central/epidemiologia , Craniofaringioma/epidemiologia , Humanos , Itália/epidemiologia , Avaliação das Necessidades , Equipe de Assistência ao Paciente/organização & administração , Hipófise/cirurgia , Neoplasias Hipofisárias/epidemiologia
8.
Epigenetics ; 6(3): 317-25, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21173573

RESUMO

In light with the view that KEAP1 loss of function may impact tumour behavior and modify response to chemotherapeutical agents, we sought to determine whether KEAP1 gene is epigenetically regulated in malignant gliomas. We developed a Quantitative Methylation Specific PCR (QMSP) assay to analyze 86 malignant gliomas and 20 normal brain tissues. The discriminatory power of the assay was assessed by Receiving Operating Characteristics (ROC) curve analysis. The AUC value of the curve was 0.823 (95%CI: 0.764-0.883) with an optimal cut off value of 0.133 yielding a 74% sensitivity (95%CI: 63%-82%) and an 85% specificity (95%CI: 64%-95%). Bisulfite sequencing analysis confirmed QMSP results and demonstrated a direct correlation between percentage of methylated CpGs and methylation levels (Spearman's Rho 0.929, P=0.003). Remarkably, a strong inverse correlation was observed between methylation levels and KEAP1 mRNA transcript in tumour tissue (Spearman's Rho -0.656 P=0.0001) and in a cell line before and after treatment with 5-azacytidine (P=0.003). RECPAM multivariate statistical analysis studying the interaction between MGMT and KEAP1 methylation in subjects treated with radiotherapy and temozolomide (n=70), identified three prognostic classes of glioma patients at different risk to progress. While simultaneous methylation of MGMT and KEAP1 promoters was associated with the lowest risk to progress, patients showing only MGMT methylation were the subgroup at the higher risk (HR 5.54, 95% CI 1.35-22.74). Our results further suggest that KEAP1 expression is epigenetically regulated. In addition we demonstrated that KEAP1 is frequently methylated in malignant gliomas and a predictor of patient's outcome.


Assuntos
Metilação de DNA , Regulação Neoplásica da Expressão Gênica , Glioma/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Regiões Promotoras Genéticas/genética , Antineoplásicos Alquilantes/uso terapêutico , Dacarbazina/análogos & derivados , Dacarbazina/farmacologia , Glioma/tratamento farmacológico , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Proteína 1 Associada a ECH Semelhante a Kelch , Fator 2 Relacionado a NF-E2/genética , Fator 2 Relacionado a NF-E2/metabolismo , Temozolomida , Resultado do Tratamento
9.
Artigo em Inglês | MEDLINE | ID: mdl-20798775

RESUMO

Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to haemorrhagic strokes and focal neurological signs. About 56% of the hereditary forms of CCMs have been so far associated with mutations in the KRIT1 (Krev Interaction Trapped 1) gene, located at 7q21.2 (CCM1 locus). We described the complete loss of 7q21.2 locus encompassing the KRIT1 gene and 4 flanking genes in a CCM family by using a dense set of 12 microsatellite markers. The complete loss of the maternal copy of KRIT1 gene region was confirmed by Real-Time Quantitative Polymerase Chain Reaction (RT-QPCR) and the same approach was used for expression analysis. Additional RT-QPCR analysis showed the extension of the deletion, for a total of 700 kb, to the adjacent downstream and upstream-located genes, MTERF, AKAP9, CYP51A1, as well as a partial loss of the ANKIB1 gene. Here we report the molecular characterization of an interstitial small genomic deletion of the 7q21.2 region in a CCMs affected family, encompassing the KRIT1 gene. Our findings confirm the loss of function mechanism for the already known CCM1 locus, without any evident involvement of the other deleted genes. Moreover, our investigations highlight the usefulness of the RT-QPCR to the molecular characterization of the breakpoints genomic deletions and to the identification of internal deleted genes involved in the human genetic diseases.


Assuntos
Cromossomos Humanos Par 7/genética , Hemangioma Cavernoso/genética , Malformações Arteriovenosas Intracranianas/genética , Proteínas Associadas aos Microtúbulos/genética , Polimorfismo Genético/genética , Proteínas Proto-Oncogênicas/genética , Deleção de Sequência , Adulto , Neoplasias Encefálicas/genética , Criança , Feminino , Humanos , Proteína KRIT1 , Masculino , Proteínas Associadas aos Microtúbulos/deficiência , Pessoa de Meia-Idade , Linhagem , Proteínas Proto-Oncogênicas/deficiência , Reação em Cadeia da Polimerase Via Transcriptase Reversa
10.
J Biomed Biotechnol ; 2009: 531692, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19503806

RESUMO

Normal brain tissue from 28 individuals and 50 glioma samples were analyzed by real-time Quantitative Methylation-Specific PCR (QMSP). Data from this analysis were compared with results obtained on the same samples by MSP. QMSP analysis demonstrated a statistically significant difference in both methylation level (P = .000009 Mann Whitney Test) and frequencies (P = .0000007, Z-test) in tumour samples as compared with normal brain tissues. Although QMSP and MSP showed similar sensitivity, the specificity of QMSP analysis was significantly higher (93%; CI95%: 84%-100%) as compared with MSP (64%; 95%CI: 46%-82%). Our results suggest that QMSP analysis may represent a powerful tool to identify glioma patients that will benefit from alkylating agents chemotherapy.


Assuntos
Metilação de DNA , Metilases de Modificação do DNA/genética , Enzimas Reparadoras do DNA/genética , Glioma/genética , Reação em Cadeia da Polimerase/métodos , Regiões Promotoras Genéticas , Proteínas Supressoras de Tumor/genética , Área Sob a Curva , Encéfalo/metabolismo , Química Encefálica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Curva ROC , Sensibilidade e Especificidade , Estatísticas não Paramétricas
11.
Neurosurgery ; 62(6 Suppl 3): 1066-75, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18695527

RESUMO

OBJECTIVE: Optimal surgical management in lateral ventricle tumors remains controversial. We conducted a retrospective study of patients with these lesions treated with a surgical strategy on the basis of tumor origin: primary or secondary ventricular and associated transependymal development. METHODS: A total of 72 patients underwent surgery for lateral ventricle tumors. The mean patient age was 39 years (range, 6 mo to 78 yr). Raised intracranial pressure occurred in 53% of patients, followed by mental disturbances or psychiatric symptoms (32%) and motor deficits (21%). The transcortical approach was used in 44 patients, and an interhemispheric approach was used in 28 patients; a transcallosal approach was used in 16 patients, and a parasplenial approach was used in 12 patients. Neuropsychological tests were performed in selected patients. RESULTS: Total resection was performed in 82% of patients. Sixty-five percent of tumors were benign and low-grade tumors. There was no surgical mortality, and the morbidity rate was 11%. Postoperative epilepsy (5.9%) was significantly increased in the transcortical group. The mean follow-up period was 55 months; 59% of patients achieved good recovery and moderate disability. In postoperative neuropsychological testing sessions, deficits in verbal memory were observed in six patients (8%). Final morbidity correlated well with preoperative clinical condition and pathological diagnosis. CONCLUSION: Lateral ventricle tumors can be treated best by careful selection of the approach according to tumor origin and development. Overall, the transcallosal approach is preferred, but in patients with transependymal growth or large primary or secondary ventricular tumors, the transcortical is a better option.

12.
Eur Radiol ; 18(8): 1727-35, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18389246

RESUMO

This study aimed to evaluate the usefulness of proton MR spectroscopic imaging ((1)H-MRSI) at 3 T in differentiating high- from low-grade gliomas, and tumour from necrosis, oedema or normal tissue. Forty-four patients with brain gliomas and four with meningiomas were retrospectively reviewed. The normalised metabolites choline (nCho), N-acetylaspartate (nNAA), creatine (nCr) and lactate/lipids (nLL), and the metabolite ratios Cho/NAA, NAA/Cr and Cho/Cr were calculated. Necrotic-appearing areas showed two spectroscopic patterns: "necrosis" with variable nCho and high nLL, and "cystic necrosis" with variable nLL or nonevident peaks. Peri-enhancing oedematous-appearing areas showed three spectroscopic patterns ("tumour" with abnormal Cho/NAA, "oedema" with normal Cho/NAA and "tumour/oedema" with normal nCho and abnormal Cho/NAA) in gliomas, and one ("oedema") in meningiomas. Peri-enhancing or peri-tumour normal-appearing areas showed two patterns ("infiltrated" with abnormal nCho and/or Cho/NAA and "normal" with normal spectra) in gliomas and one ("normal") in meningiomas. Discriminant analysis showed that classification accuracy between high- and low-grade glioma masses was better with normalised metabolites or all parameters together than metabolite ratios and that among peri-enhancing areas was much better with normalised metabolites. The analysis of spatial distribution of normalised metabolites by 3-T (1)H-MRSI helps to discriminate among different tissues, offering information not available with conventional MRI.


Assuntos
Biomarcadores Tumorais/análise , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/metabolismo , Glioma/diagnóstico , Glioma/metabolismo , Espectroscopia de Ressonância Magnética/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prótons
13.
Neurogenetics ; 8(1): 29-37, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17043900

RESUMO

Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to hemorrhagic strokes and focal neurological signs. Mutations in three genes (KRIT1, MGC4607, and PDCD10) have been associated with CCMs. We investigated the role of two new mutations in the KRIT1 gene in two Italian families affected by CCMs. Whole blood DNA was extracted and the mutations were detected after polymerase chain reaction (PCR), denaturing high-performance liquid chromatography screening, and sequencing of the coding regions of the three CCMs-associated genes. Total RNA was extracted, and the KRIT1 cDNA was sequenced and subsequently subjected to real-time quantitative PCR in order to examine the translational outcome of each genomic mutation. A novel splicing acceptor site deletion of the exon 14 in one family and an intronic nucleotide change close to the exon 19 in the other one were identified, both in the KRIT1 gene. These mutations were proven to alter the correct splicing mechanism, resulting, respectively, in a truncated protein of 432 amino acids and in a protein lacking an internal segment. We report two novel cases of splicing affecting genomic variants, suggesting a careful reanalysis of previously identified splice site variations in KRIT1 to look for their possible causative roles of similar missplicing events and their consequent involvement in the pathogenesis of CCMs. Moreover, our genotype-phenotype functional correlation suggests that the C-terminal portion of the KRIT1 protein is likely to contain a short, previously unrecognized segment necessary for its activity.


Assuntos
Hemangioma Cavernoso/genética , Proteínas Associadas aos Microtúbulos/genética , Mutação , Proteínas Proto-Oncogênicas/genética , Adolescente , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Éxons , Família , Feminino , Hemangioma Cavernoso/patologia , Humanos , Íntrons , Proteína KRIT1 , Imageamento por Ressonância Magnética , Masculino , Linhagem , Reação em Cadeia da Polimerase
14.
Neurosurg Focus ; 21(1): e9, 2006 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-16859262

RESUMO

OBJECT: Although there is general agreement on the methods of treatment for symptomatic supratentorial cerebral cavernous malformations (CMs) located in noneloquent areas, some controversy exists regarding the management of cerebral CMs that are asymptomatic and/or located in eloquent or deep areas. Moreover, recent advances in genetic findings could influence both standard clinical management and the follow-up strategy in affected individuals. Thus, the objective of this study was to develop, based on the authors' experience and a literature review, a management algorithm to deal with supratentorial cerebral CMs. METHODS: The authors retrospectively reviewed the clinical data related to 118 patients who underwent surgery for symptomatic supratentorial cerebral CMs at their institution. Twenty-eight of 118 patients harbored multiple lesions, and nine of these 28 patients had a clinically positive familial history. Genetic investigations were performed in 89 patients (75%). CONCLUSIONS: Surgery for supratentorial cerebral CMs in noneloquent locations is safe and curative. In cerebral CMs located in deep and eloquent areas and with symptoms including progressive neurological deficits, evidence of hemorrhage, and uncontrolled seizures, surgical treatment according to an integrated plan based on frameless stereotactic guidance and functional magnetic resonance imaging is recommended and results in acceptably low morbidity. The data support the need for long-term imaging follow up in all patients, careful preoperative vascular studies to detect associated venous anomalies, and the importance of genetic mutational analysis. The DNA screening protocol will change the care of family members of patients with familial forms of cerebral CMs, because affected asymptomatic family members may benefit by early detection of lesions. At the same time, the exclusion of family members who are not carriers of the mutation as members of the population at risk reduces the economic and psychological burden of clinical and instrumental monitoring.


Assuntos
Neoplasias Encefálicas/genética , Neoplasias Encefálicas/cirurgia , Veias Cerebrais/anormalidades , Veias Cerebrais/cirurgia , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/diagnóstico , Veias Cerebrais/patologia , Criança , Pré-Escolar , Análise Mutacional de DNA , Epilepsia/etiologia , Epilepsia/fisiopatologia , Epilepsia/cirurgia , Feminino , Predisposição Genética para Doença/genética , Testes Genéticos , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neuronavegação , Procedimentos Neurocirúrgicos , Cuidados Pré-Operatórios , Estudos Retrospectivos , Procedimentos Cirúrgicos Vasculares
15.
Neuroradiology ; 48(9): 622-31, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16752135

RESUMO

INTRODUCTION: Contrast-enhanced MR imaging is the method of choice for routine assessment of brain tumors, but it has limited sensitivity and specificity. We verified if the addition of metabolic, diffusion and hemodynamic information improved the definition of glioma extent and grade. METHODS: Thirty-one patients with cerebral gliomas (21 high- and 10 low-grade) underwent conventional MR imaging, proton MR spectroscopic imaging ((1)H-MRSI), diffusion weighted imaging (DWI) and perfusion weighted imaging (PWI) at 3 Tesla, before undergoing surgery and histological confirmation. Normalized metabolite signals, including choline (Cho), N-acetylaspartate (NAA), creatine and lactate/lipids, were obtained by (1)H-MRSI; apparent diffusion coefficient (ADC) by DWI; and relative cerebral blood volume (rCBV) by PWI. RESULTS: Perienhancing areas with abnormal MR signal showed 3 multiparametric patterns: "tumor", with abnormal Cho/NAA ratio, lower ADC and higher rCBV; "edema", with normal Cho/NAA ratio, higher ADC and lower rCBV; and "tumor/edema", with abnormal Cho/NAA ratio and intermediate ADC and rCBV. Perienhancing areas with normal MR signal showed 2 multiparametric patterns: "infiltrated", with high Cho and/or abnormal Cho/NAA ratio; and "normal", with normal spectra. Stepwise discriminant analysis showed that the better classification accuracy of perienhancing areas was achieved when regarding all MR variables, while (1)H-MRSI variables and rCBV better differentiated high- from low-grade gliomas. CONCLUSION: Multiparametric MR assessment of gliomas, based on (1)H-MRSI, PWI and DWI, discriminates infiltrating tumor from surrounding vasogenic edema or normal tissues, and high- from low-grade gliomas. This approach may provide useful information for guiding stereotactic biopsies, surgical resection and radiation treatment.


Assuntos
Neoplasias Encefálicas/diagnóstico , Glioma/diagnóstico , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Adolescente , Adulto , Idoso , Ácido Aspártico/análogos & derivados , Ácido Aspártico/análise , Neoplasias Encefálicas/química , Colina/análise , Meios de Contraste , Creatina/análise , Imagem de Difusão por Ressonância Magnética , Feminino , Glioma/química , Humanos , Ácido Láctico/análise , Lipídeos/análise , Angiografia por Ressonância Magnética , Masculino , Pessoa de Meia-Idade
16.
J Neurosurg ; 104(3): 419-25, 2006 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16572655

RESUMO

OBJECT: The authors compare the views afforded by the operating microscope and the endoscope in the direct endonasal extended transsphenoidal approach to the sellar, suprasellar, and parasellar regions. METHODS: Five formalin-fixed, silicone-injected adult cadaveric heads were studied. A direct endonasal transsphenoidal approach was performed via the right nostril, pushing aside the nasal septum. The approach was performed with the microscope first, then with the endoscope. For each step (sellar, suprasellar, and clival), the exposure afforded by direct microscopic view was measured and then compared with that obtained using the endoscope. The direct endonasal approach provides a slightly off-midline view. Although the microscope provides an adequate view of the midline structures and part of the contralateral parasellar areas, the addition of the endoscope allows for a more panoramic view and permits widening of the approach in all directions. CONCLUSIONS: An adequate exposure of the sellar, suprasellar, and infrasellar/upper clival regions can be achieved via a simple, direct endonasal approach. From a direct endonasal route, there is a preferential visualization of the structures contralateral to the approach. The endoscope affords a more panoramic view that extends the area covered by the operating microscope.


Assuntos
Microscopia , Neuroendoscopia , Procedimentos Neurocirúrgicos/métodos , Seio Esfenoidal/cirurgia , Cadáver , Humanos
17.
Neurosurgery ; 56(6): 1215-21; discussion 1221, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15918937

RESUMO

OBJECTIVE: Hemangioblastomas of the central nervous system (CNS) are benign neoplasms that may occur sporadically or in association with von Hippel-Lindau (VHL) disease. The proportion of primary symptomatic hemangioblastomas associated with VHL disease is estimated to be from 10 to 40%, but it seems to be underestimated. We investigated the frequency of VHL germline mutation in patients with symptomatic CNS hemangioblastoma without evidence of VHL disease to define the role of molecular genetic analysis in the management of such patients and their relatives. METHODS: We analyzed 14 patients (6 female and 8 male; mean age, 43.5 yr) with no family history and no other clinical manifestations of VHL disease who had been operated on for symptomatic CNS hemangioblastoma. Exons 1, 2, and 3 of the VHL gene and their immediately flanking sequences were amplified by use of polymerase chain reaction followed by analysis with denaturing high-performance liquid chromatography and sequencing the anomalous samples. RESULTS: Germline mutations of the VHL gene were identified in 2 (14%) of 14 patients. VHL gene mutation analysis was performed in both patients' family members, which showed another affected asymptomatic subject for VHL disease. The affected subjects were recommended for VHL disease surveillance protocol. CONCLUSION: Molecular genetic analysis is a safer and more specific instrument to confirm or exclude VHL disease in patients with CNS hemangioblastoma, a negative family history, or absence of other known manifestations of the disease. Early identification of VHL mutation gene carriers is important for reducing disease morbidity and mortality. Nonsymptomatic family members will benefit from early VHL disease diagnosis or by being excluded as at-risk subjects, reducing the psychological and economic burden of screening and surveillance protocols.


Assuntos
Neoplasias do Sistema Nervoso Central/genética , Hemangioblastoma/genética , Biologia Molecular , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Adulto , Idoso , Arginina/genética , Neoplasias do Sistema Nervoso Central/diagnóstico , Análise Mutacional de DNA/métodos , Éxons , Feminino , Hemangioblastoma/diagnóstico , Humanos , Leucina/genética , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Prolina/genética , Estudos Retrospectivos , Triptofano/genética , Doença de von Hippel-Lindau/genética
18.
Neurosurgery ; 56(1 Suppl): 36-45; discussion 36-45, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15799791

RESUMO

OBJECTIVE: Optimal surgical management in lateral ventricle tumors remains controversial. We conducted a retrospective study of patients with these lesions treated with a surgical strategy on the basis of tumor origin: primary or secondary ventricular and associated transependymal development. METHODS: A total of 72 patients underwent surgery for lateral ventricle tumors. The mean patient age was 39 years (range, 6 mo to 78 yr). Raised intracranial pressure occurred in 53% of patients, followed by mental disturbances or psychiatric symptoms (32%) and motor deficits (21%). The transcortical approach was used in 44 patients, and an interhemispheric approach was used in 28 patients; a transcallosal approach was used in 16 patients, and a parasplenial approach was used in 12 patients. Neuropsychological tests were performed in selected patients. RESULTS: Total resection was performed in 82% of patients. Sixty-five percent of tumors were benign and low-grade tumors. There was no surgical mortality, and the morbidity rate was 11%. Postoperative epilepsy (5.9%) was significantly increased in the transcortical group. The mean follow-up period was 55 months; 59% of patients achieved good recovery and moderate disability. In postoperative neuropsychological testing sessions, deficits in verbal memory were observed in six patients (8%). Final morbidity correlated well with preoperative clinical condition and pathological diagnosis. CONCLUSION: Lateral ventricle tumors can be treated best by careful selection of the approach according to tumor origin and development. Overall, the transcallosal approach is preferred, but in patients with transependymal growth or large primary or secondary ventricular tumors, the transcortical is a better option.


Assuntos
Neoplasias do Ventrículo Cerebral/cirurgia , Ventrículos Laterais/cirurgia , Procedimentos Neurocirúrgicos/métodos , Telencéfalo/cirurgia , Adolescente , Adulto , Idoso , Neoplasias do Ventrículo Cerebral/diagnóstico por imagem , Ventriculografia Cerebral/métodos , Criança , Pré-Escolar , Tomada de Decisões , Feminino , Seguimentos , Humanos , Lactente , Ventrículos Laterais/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Estudos Retrospectivos , Telencéfalo/diagnóstico por imagem
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