RESUMEN
Dual origin of the vertebral artery (VA) is an uncommon anatomical variation. We describe a case of duplication origin at right vertebral artery (RVA) found incidentally in one elderly patient on investigation for cerebral aneurysm. Angiogram study showed a pseudoaneurysm at V4 segment of the RVA associated with embryological anatomy. The authors performed a systematic review of the similar cases reported worldwide.
Asunto(s)
Variación Anatómica , Cefalea/etiología , Aneurisma Intracraneal/diagnóstico , Disección de la Arteria Vertebral/diagnóstico , Arteria Vertebral/anomalías , Angiografía de Substracción Digital , Arteria Carótida Interna/diagnóstico por imagen , Femenino , Humanos , Aneurisma Intracraneal/complicaciones , Persona de Mediana Edad , Arteria Vertebral/lesiones , Disección de la Arteria Vertebral/etiologíaRESUMEN
BACKGROUND: Brainstem abscess is a rare condition with a variety of treatment approaches. In this paper, we report an unusual case of a brainstem abscess with a positive outcome in an immunocompetent patient who was treated with antibiotic therapy. CASE DESCRIPTION: A 22-year-old female presented with bilateral tetraparesis that was worse on the left hemibody, appendicular tremor, and left upper eyelid ptosis. Brain magnetic resonance imaging showed an abscess in the pons and midbrain due to possible nocardiosis. She was treated with dexamethasone, phenytoin, vancomycin, and meropenem for 8 weeks and trimethoprim-sulfamethoxazole for 6 weeks. The brain injury decreased, and the patient's neurological status significantly improved. CONCLUSION: Brainstem abscess may be treated conservatively, leading to improvement of the clinical condition and decreased lesion size on imaging.
RESUMEN
Meningiomas are considered the most common intracranial tumors, affecting mainly women. Studies in mixed populations can be of great importance to clarify issues related to the genetic diversity of tumors and their development. Considering that data obtained from analyses of the profile of copy number alterations (CNA) have been a useful diagnostic indicator for many types of tumors and that meningiomas show a complex pattern of gains and losses in the number of copies, our objective was to analyze the CNA profile in 33 samples of meningiomas of different histological grades (WHO Grade I-III) from patients in a city located in the Amazon region of Brazil, using aCGH. We found that the female to male ratio was 3 : 1. The aCGH analysis revealed a total of 2304 CNA, with an average of 69.8 ± 57.4 per case, of which 1197 were gains (52%), 926 were losses (40.2%), 105 were amplifications (4. 5%), and 76 were deletions (3.3%). A significant relationship was observed between the type of CNA and the degree of the tumor (chi-square test: χ 2 = 65,844; p < 0.0001; contingency coefficient: C = 0.1772; p < 0.0001). Evaluating the recurrent changes in at least 50% of the samples, we observe as the most frequent losses of the segments 22q13.1-q13.2 (82%), 1p35.3 (76%), and 14q13.1-q13.2 (67%), involving all histopathological grades. The analysis of these regions showed the inclusion of genes with functions such as regulation, maintenance of cell survival, reorganization of the cytoskeleton, cell signaling, and DNA repair, among others. However, overall, the profiles observed in meningiomas of this admixed population were very similar to the ones observed in Caucasian groups. An interesting finding was a recurrent gain of 8p22 observed only in grade I meningiomas, a region which includes DLC1, a suppressor candidate gene probably implicated in the developments or progression of meningiomas, usually found deleted, when related to CNAs.
RESUMEN
Astrocytic gliomas, which are derived from glial cells, are considered the most common primary neoplasias of the central nervous system (CNS) and are histologically classified as low grade (I and II) or high grade (III and IV). Recent studies have shown that astrocytoma formation is the result of the deregulation of several pathways, including the RB/E2F pathway, which is commonly deregulated in various human cancers via genetic or epigenetic mechanisms. On the basis of the assumption that the study of the mechanisms controlling the INK4/ARF locus can help elucidate the molecular pathogenesis of astrocytic tumors, identify diagnostic and prognostic markers, and help select appropriate clinical treatments, the present study aimed to evaluate and compare methylation patterns using bisulfite sequencing PCR and evaluate the gene expression profile using real-time PCR in the genes CDKN2A, CDKN2B, CDC6, Bmi-1, CCND1, and RB1 in astrocytic tumors. Our results indicate that all the evaluated genes are not methylated independent of the tumor grade. However, the real-time PCR results indicate that these genes undergo progressive deregulation as a function of the tumor grade. In addition, the genes CDKN2A, CDKN2B, and RB1 were underexpressed, whereas CDC6, Bmi-1, and CCND1 were overexpressed; the increase in gene expression was significantly associated with decreased patient survival. Therefore, we propose that the evaluation of the expression levels of the genes involved in the RB/E2F pathway can be used in the monitoring of patients with astrocytomas in clinical practice and for the prognostic indication of disease progression.
Asunto(s)
Astrocitoma/genética , Neoplasias Encefálicas/genética , Factores de Transcripción E2F/genética , Regulación Neoplásica de la Expresión Génica/genética , Proteína de Retinoblastoma/genética , Transducción de Señal/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Astrocitoma/patología , Neoplasias Encefálicas/patología , Proteínas de Ciclo Celular/genética , Ciclina D1/genética , Inhibidor p15 de las Quinasas Dependientes de la Ciclina/genética , Inhibidor p16 de la Quinasa Dependiente de Ciclina/genética , Metilación de ADN/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteínas Nucleares/genética , Complejo Represivo Polycomb 1/genética , Pronóstico , Adulto JovenRESUMEN
Objective: report a case of neurocutaneousmelanosis in Belém, Pará. Case report: a 13-yearsoldboy, with history 8 months later presented paroxistic absence recurrent seizures controlledwith carbamazepine. At three years old, the seizures became generalized type, associated tonistagmus and incipient apendicular ataxia. Until 11 years old, he had neurologic exam stable,without diagnostic, when presented persistent holocranial headache, nausea, morning vomit,oftalmoparesis type III pair lesion on the right and somnolence. At general exam, it was founduncountable melanocytic nevi in his dorsum, buttocks, left arm, thorax and right shoulder. MRIstudy was performed and suggested CNS melanicytic infiltration. The patient underwentventriculoperitoneal derivation and presented good evaluation, asymptomatic.Conclusion: theearly diagnostic is very important, considering the possibility to precocious neurosurgicalintervention, allowing the increase of survival in these patients.
Objetivo: relatar um caso de melanoseneurocutanea em Belém, Pará. Relato de caso:adolescente, 13 anos de idade, gênero masculino, com história de crises convulsivasparoxísticas, tipo ausência, recorrentes, controladas com uso de carbamazepina. Aos três anosde idade, as crises tornaram-se do tipo generalizada, associada com nistagmo e ataxiaapendicular incipiente. Até 11 anos de idade, o paciente teve quadro neurológico estável, semdiagnóstico, quando apresentou cefaléia persistente holocraniana, náusea, vômitos pela manhã,sonolência e oftalmoparesia por lesão do III par craniano à direita. No exame geral, foramencontrados incontáveis nevos melanocíticos no dorso, nádegas, braço esquerdo, tórax e ombrodireito. A RNM sugeriu infiltração melanocítica do SNC. O paciente foi submetido a derivaçãoventrículo-peritoneal e apresentou boa evolução, ficando assintomático após o procedimento.Conclusão: o diagnóstico precoce é muito importante, considerando a possibilidade deintervenção neurocirúrgica precoce, permitindo o aumento da sobrevida nesses pacientes