Brain biopsy in suspected non-neoplastic neurological disease.

Brain biopsy has a well-established role in the diagnosis of CNS neoplasia. Nevertheless, despite being essential for the diagnosis of some benign neurological diseases, little consensus exists regarding its indications for disease diagnosis and patient orientation. Our aim was to assess brain biopsy diagnostic yield in patients with neurological deterioration of unknown etiology, to identify the clinical characteristics associated with an increased likelihood of achieving a diagnostic biopsy as well as the characteristics linked to a particular diagnosis. METHODS: A retrospective analysis of 62 consecutive brain biopsies performed at a single tertiary care center between January 2004 and December 2015 for suspected non-neoplastic neurological disease was performed. The clinical presentation, imaging, and laboratory results were collected and compared between diagnostic groups. RESULTS: Sixty-eight percent of the biopsies led to a definitive diagnosis. The most common histological diagnosis was central nervous system lymphoma (eight cases), followed by astrocytoma, demyelinating disease, and progressive multifocal leukoencephalopathy (four cases each). No clinical characteristics were found to predict a diagnostic biopsy or to correlate with a specific diagnosis. Importantly, a distinct diagnosis from the initially suspected was achieved in 52% of cases and biopsy findings led to a change of therapeutic orientation in 78% of the cases. CONCLUSIONS: Our results suggest that brain biopsies have a significant impact on patient management and should be considered early in selected cases in which less invasive testing was unable to reach a definitive diagnosis.

Supratentorial hemangioblastomas in von Hippel-Lindau wild-type patients - case series and literature review.

BACKGROUND: Supratentorial hemangioblastoma is an uncommon lesion with few data available. Resemblance to other tumours represents a struggle concerning pre-operative diagnosis and management. OBJECTIVES: The aim of this study was to review the current literature, integrating two new cases with uncommon features. METHODS: A search of English language peer-reviewed articles in PubMed®, Cochrane Library®, Google Scholar® and summary of the current knowledge. RESULTS: A total of 162 cases, with no predominance between von Hippel-Lindau disease and wild-type sporadic lesions. The frontal lobe is the most common topography, followed by the pituitary stalk, with image resemblance to a glioma or a metastasis. From these, 20 cases revealed dural attachment, mimicking a meningioma. Symptoms are due to mass effect or epilepsy, with low haemorrhagic risk. Clinical outcome on supratentorial hemangioblastoma depends on resection extension, with no recognised complementary treatment. Post-operative follow-up is essential, even in wild-type, sporadic cases, concerning recent reports of tumour dissemination. CONCLUSIONS: This review compiles the main characteristics of supratentorial hemangioblastoma, that despite its rarity, should be a concern on differential diagnosis, treatment planning and expected prognosis.

Peripheral Facial Palsy and Communicating Hydrocephalus as a Clinical Presentation of Hemorrhagic Vestibular Schwannoma: Case Report

The vestibular schwannoma is the most common extra-axial tumor of the posterior fossa. Hemorrhage associated with vestibular schwannomas has been described in less than 1% of the cases. The etiology remains unknown; however, some risk factors have been suggested, such as tumor size and tumor growth rate, the vascularity and histopathology of the tumor or even previous treatment with radiosurgery. The present case is of a 74-year-old female patient, who presented to our clinic in December of 2015 after a mild traumatic brain injury. In that context, she did a brain computed tomography (CT) scan and was diagnosed with a vestibular schwannoma­ an incidentaloma. It was decided at that time to treat the patient conservatively because of her comorbidities and the presentation of the disease. In March of 2017, the patient presented again to our clinic with a right peripheral facial paralysis (House-Brackmann [HB] grade IV-VI) and confusion. The CT scan revealed that bleeding around the vestibular schwannoma had caused the clinical presentation. We decided to treat the hydrocephalus with a ventriculoperitoneal shunt. At the time of her last follow-up visit, the confusion symptoms had resolved, and her right-sided facial function had improved to a HB grade II-VI.

Surgical Management of Ruptured Posterior Circulation Aneurysms ­ A Single Center Experience

Objective The treatment of ruptured aneurysms of the posterior circulation is a controversy in neurosurgery. The aim of this work is to describe the experience and results of the early surgical treatment of this pathology at Centro Hospitalar do Porto. Method We retrospectively analyzed the medical records of all patients aged over 18 who, in the period between 1999­2013, were admitted to our center with the diagnosis of ruptured saccular posterior circulation aneurysm. The patients were clinically staged at admission using the Hunt & Hess (H&H) scale. The modified Glasgow Outcome Scale (mGOS) was used to assess the outcome at discharge and after 6 months. Results Between 1999­2013, 59 patients underwent surgery for ruptured posterior circulation aneurysms. Eighty percent of the patients were female, and their average age was 58.7 years. Posterior-inferior cerebellar artery aneurysms accounted for 49.2% of surgeries, while basilar aneurysms accounted for 28.8%. Upon admission, 86.4% of patients were classified as H&H1­3, and 13.6% as H&H4­5. The outcomes at discharge and at 6 months were as follows: at discharge, mGOS1 in 5.1%, mGOS2­3 in 18.6%, and mGOS4­5 in 76.3%; at 6 months, mGOS1 in 10.2%, mGOS2­3 in 10.2%, and mGOS4­5 in 79.6%. There was a statistically significant correlation between basilar aneurysms and worse outcomes (p » 0.011). No correlation was found between the values of the H&H scale upon admission and outcome. Conclusions The functional outcome of our group of patients is mainly in line with what is described in other series from the literature. However, there is a trend toward lower mortality but higher morbidity rates.

Objetivo O tratamento dos aneurismas rotos da circulação posterior é uma controvérsia neurocirúrgica. Pretende-se com este trabalho relatar a experiência e os resultados do tratamento cirúrgico precoce desta patologia no Centro Hospitalar do Porto. Métodos Foram analisados retrospectivamente os processos clínicos dos pacientes com idade > 18 anos que, no período entre 1999­2013, foram admitidos no nosso centro com o diagnóstico de aneurisma sacular roto da circulação posterior. Utilizou-se a escala de Hunt & Hess (H&H) para aferir a gravidade clínica dos pacientes, e a Escala de Outcome de Glagow modificada (mGOS) para aferir o outcome dos pacientes à data da alta e aos 6 meses. Resultados Entre 1999­2013, foram operados 59 pacientes com aneurismas rotos da circulação posterior. Oitenta por centro dos pacientes eram do sexo feminino, com uma média de idade média de 58.7 anos. Aneurismas da artéria cerebelosa posteroinferior foram responsáveis por 49,2% das cirurgias, ao passo que os da artéria basilar, por 28,8%. À admissão, 86,4% dos pacientes eram H&H1­3, e 13,6%, H&H4­5. O outcome à data da alta e aos 6 meses foi o seguinte: à data de alta, mGOS1 em 5,1%, mGOS2­3 em 18,6%, e mGOS4­5 em 76,3%; aos 6 meses, mGOS1 em 10,2%, mGOS2­ 3 em 10,2%, e mGOS4­5 em 79,6%. Verificou-se uma correlação estatisticamente significativa entre aneurismas da basilar e um pior outcome (p » 0,011). Não se verificou qualquer correlação entre os valores da escala de H&H à admissão e o outcome. Conclusões O outcome funcional do nosso grupo de pacientes está em linha com o descrito noutras séries da literatura. Contudo, destaca-se uma tendência para uma mortalidade mais baixa, mas uma morbilidade mais alta no nosso grupo de pacientes.

Cervical Disc Herniation and Central Horner Syndrome

Central Horner syndrome is a rare condition, comprising a unique pathophysiological phenomenon. It results from vascular lesions, head or thoracic trauma. We describe a case of Horner syndrome associated to cervical disc herniation, and first-order neuron compression. To our knowledge, this is the second case reported to date in the literature.

A síndrome de Horner central é uma condição rara, que compreende um fenómeno fisiopatológico singular. Resulta de lesões vasculares, trauma cerebral ou torácico. Descrevemos um caso de síndrome de Horner associado a hérnia de disco cervical, com lesão de primeiro neurónio. De acordo com a revisão, é o segundo caso reportado na literatura.

Impact of EGFR genetic variants on glioma risk and patient outcome.

BACKGROUND: The epidermal growth factor receptor (EGFR) regulates important cellular processes and is frequently implicated in human tumors. Three EGFR polymorphisms have been described as having a transcriptional regulatory function: two single-nucleotide polymorphisms in the essential promoter region, -216G/T and -191C/A, and a polymorphic (CA)(n) microsatellite sequence in intron 1. We aimed to elucidate the roles of these EGFR polymorphisms in glioma susceptibility and prognosis. METHODS: We conducted a case-control study with 196 patients with glioma and 168 cancer-free controls. Unconditional multivariate logistic regression models were used to calculate ORs and 95% confidence intervals. A Cox regression model was used to evaluate associations with patient survival. False-positive report probabilities were also assessed. RESULTS: None of the EGFR -216G/T variants was significantly associated with glioma risk. The -191C/A genotype was associated with higher risk for glioma when the (CA)(n) alleles were classified as short for ≤16 or ≤17 repeats. Independently of the (CA)(n) repeat cutoff point used, shorter (CA)(n) repeat variants were significantly associated with increased risk for glioma, particularly glioblastoma and oligodendroglioma. In all tested models with different (CA)(n) cutoff points, only -191C/A genotype was consistently associated with improved survival of patients with glioblastoma. CONCLUSIONS: Our findings implicate EGFR -191C/A and the (CA)(n) repeat polymorphisms as risk factors for gliomas, and suggest -191C/A as a prognostic marker in glioblastoma. IMPACT: Our data support a role of these EGFR polymorphisms in determining glioma susceptibility, with potential relevance for molecularly based stratification of patients with glioblastoma for individualized therapies.

Prognostic value of MGMT promoter methylation in glioblastoma patients treated with temozolomide-based chemoradiation: a Portuguese multicentre study.

Glioblastoma (GBM) is the most common and aggressive primary brain tumor. The identification of novel molecular prognostic markers of GBM has recently been an area of great interest in neuro-oncology. The methylation status of the MGMT gene promoter is currently a promising molecular prognostic marker, but some controversial data have precluded its clinical use. We analyzed MGMT methylation by methylation-specific PCR in 90 GBM patients from four Portuguese hospitals, uniformly treated with radiotherapy combined with concomitant and adjuvant temozolomide (Stupp protocol). The Kaplan-Meier method was used to construct survival curves, and the log-rank test and a Cox-regression model were used to analyze patient survival. The methylation status of MGMT was successfully determined in 89% (80/90) of the tumors. The frequency of tumoral MGMT promoter methylation was 47.5%. The median overall survivals (OSs) were 16 months (95% CI 12.2-19.8) and 13 months (95% CI 13.3-18.7) for patients whose tumors had a methylated or unmethylated MGMT, respectively. Univariate and multivariate analyses did not show any statistically significant association between MGMT methylation status and patient OS (P=0.583 by the log-rank test; P=0.617 by the Cox-regression test) or progression-free survival (P=0.775 by the log-rank test; P=0.691 by the Cox-regression test). None of the patient clinical features were significantly correlated with survival. This is the first study to report the frequency of MGMT methylation among Portuguese GBM patients. Our data did not show statistically significant associations between MGMT promoter methylation and the outcome of GBM patients treated with temozolomide. Additional robust prospective studies are warranted to clarify whether the MGMT status should be used in clinical decisions.

Cateter ventriculoperitoneal migrado para o escroto através de hérnia inguinal ? Relato de caso / Ventriculoperitoneal shunt migrated to scrotum through inguinal hernia ? Case report

A derivação ventriculoperitoneal é atualmente o método mais utilizado no tratamento da hidrocefalia comunicante. As complicações mais comuns são a disfunção do shunt e infecções. Este relato de caso tem como objetivo apresentar um doente com idas recorrentes ao serviço de urgência por agitação psicomotora e dor abdominal, e cujo cateter distal previamente desconectado encontrava-se alojado no interior do saco escrotal através de hérnia inguinoescrotal. A formação de hérnia inguinal com migração de cateter é um evento raro no adulto, sendo mais comum na criança, possivelmente pela maior taxa de patência do processo vaginal e aumento da pressão intra-abdominal. No momento em que este artigo foi redigido, não foi encontrado caso semelhante na literatura...

Ventriculoperitoneal shunt is the most used method for the treatment of communicating hydrocephalus. Common complications include shunt dysfunction and infection. This case report aims to present a patient, with recurrent visits to the emergency department for abdominal pain and agitation, and whose distal catheter previously disconnected, was housed inside the scrotum through a scrotal inguinal hernia. The association of inguinal hernia and catheter migration is uncommon in adults, being more frequent in infants possibly because of the higher rate of patent processus vaginalis and increased abdominal pressure. No similar case was found in the literature by the time this article has been written...