A novel case of paravertebral glomangiomyomatosis.

Glomangiomyomatosis is an extremely rare variant of glomus tumours. We describe the first known case of paravertebral glomangiomyomatosis in the literature to cause spinal cord compression. A 45-year old female patient presented with sudden onset of left leg pain and progressive weakness in left-sided hip flexion. An MRI spine revealed a large, lobulated, heterogeneous mass cantered on the left L2/3 foramen, mimicking a dumbbell nerve sheath tumour. The mass was invading the psoas muscle and displayed evidence of recent haemorrhage. The patient underwent debulking of the lesion via a left retroperitoneal approach. Surgery was uneventful, with clinical improvement and resolution of leg pain post-operatively. Histopathology of the tumour revealed delineated glomus-like cells and foci of spindled shaped cells resembling myoid differentiation. Immuno-histochemical features of the tumour confirmed the diagnosis of glomangiomyomatosis. The patient continued under close follow up, representing 18 months later with clinical and radiological progression of the disease with similar symptoms of leg pain but no weakness. Follow up MRI revealed progression of the intraspinal and paraspinal components of the tumour with thecal compression. A posterior approach was utilized in order to decompress the intraspinal component, which again was uneventful, and improved the patient's symptoms. This is the first known case of paravertebral glomangiomyomatosis in the literature and this rare entity should be considered in the differential diagnosis of nerve sheath tumours due to risk of progression and recurrence.

Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.

Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare cancer-predisposition syndrome associated with a high risk of developing a spectrum of malignancies in childhood and adolescence, including brain tumours. In this report, we present the case of an 8-year-old boy with acute headache, vomiting and an episode of unconsciousness in whom brain imaging revealed a high-grade glioma (HGG). The possibility of an underlying diagnosis of CMMRD was suspected radiologically on the basis of additional neuroimaging findings, specifically the presence of multiple supratentorial and infratentorial developmental venous anomalies (DVAs) and malformations of cortical development (MCD), namely, heterotopic grey matter. The tumour was debulked and confirmed to be a HGG on histopathology. The suspected diagnosis of CMMRD was confirmed on immunohistochemistry and genetic testing which revealed mutations in PMS2 and MSH6. The combination of a HGG, multiple DVAs and MCD in a paediatric or young adult patient should prompt the neuroradiologist to suggest an underlying diagnosis of CMMRD. A diagnosis of CMMRD has an important treatment and surveillance implications not only for the child but also the family in terms of genetic counselling.

A case series of Diffuse Glioneuronal Tumours with Oligodendroglioma-like features and Nuclear Clusters (DGONC).

In this study, we report three paediatric cases of Diffuse Glioneuronal Tumours with Oligodendroglioma-like features and Nuclear Clusters (DGONC).

Cranial vault unicameral bone cyst.

Introduction: Unicameral bone cysts (UBC), also known as simple bone cysts, are common benign bone lesions filled with fluid, primarily occurring in children and adolescents. Although they can develop in any bone, UBCs usually affect the long bones.Materials & Methods: A 53 year old male patient was found incidentally to have a calvarian lesion in the parietal region overlying the superior sagittal sinus (SSS) (Figure 1). The differential diagnosis included a large arachnoid granulation, haemangioma of bone, a giant cell tumour or tuberculous infection. The patient was planned for elective surgery to remove the lesion and establish the diagnosis. Surgery was uneventful.Conclusion: To the best of our knowledge we describe the first case of UBC affecting the cranial vault. The patient underwent surgery.

Calcifying Pseudoneoplasm of the Neuraxis, Cerebellum and Cognition: A Rare Opportunity to Learn More.

Calcifying pseudoneoplasms of the neuraxis (CAPNON) are rare tumours. We describe a CAPNON in the posterior fossa and its associated neuropsychological sequelae to provide further evidence for the role of cerebellum in cognitive function. We report the clinical details, imaging, pre-operative neuropsychological assessment, histological features and management of a patient with such a tumour in the posterior fossa location. Detailed pre-operative neuropsychological assessment identified a number of cognitive deficits that had the hallmarks of dysexecutive syndrome. Post-surgery, there was considerable improvement, most notably on processing speed tasks and selected executive tests. This rare case provides further evidence for the role of cerebellum in cognitive function.

Variably protease-sensitive prionopathy mimicking frontotemporal dementia.

Sporadic prion diseases are fatal neurodegenerative disorders characterized clinically by rapidly progressive dementia and myoclonus. Variably protease-sensitive prionopathy (VPSPr) is a recently identified sporadic human prion disorder that may present with a lengthy atypical clinical history. Here, we describe a case of VPSPr in a patient with a long history of suspected frontotemporal dementia (FTD). A 61-year-old man presented with speech difficulties, including naming objects and constructing multipart sentences, while there was no difficulty in comprehension. Movement abnormalities included slightly jerky pursuit, minor dysmetria of saccades and brisk reflexes. There was no family history of dementia. Later he developed swallowing difficulties and the possibility of FTD with motor neuron disease was suspected. He died at the age of 71 and his brain was donated to the London Neurodegenerative Diseases Brain Bank. The brain (1004 g) showed mild to moderate atrophy, predominantly in the frontal lobe. Histology revealed moderate spongiform microvacuolation mostly affecting the frontal and parietal cortices, but also present focally in the basal ganglia and the cerebellum. Only mild Alzheimer pathology was found by extensive immunohistochemistry, in keeping with BrainNet Europe stage II. Trans-activation response DNA-binding protein 43 kDa and α-synuclein immunostains were negative. Immunostaining for prion protein (PrP) showed granular/synaptic positivity in a patchy distribution, mainly within the deeper cortex, and also revealed microplaques in the cerebellum and basal ganglia. Western blotting confirmed a low molecular weight protease-resistant PrP band with a faint ladder-like pattern in the absence of types 1 and 2 isoforms. These features are diagnostic of VPSPr. VPSPr can mimic various neurodegenerative conditions; diagnosis requires both PrP immunohistochemistry and Western blotting. The presence of patchy spongiform change in the absence of other neurodegenerative pathology should raise suspicion of VPSPr, even in elderly patients with a lengthy clinical history.

Grade II Sylvian fissure meningiomas without dural attachment: case report and review of the literature.

Sylvian fissure meningiomas (SFMs) represent a rare subgroup of nondural-based tumors arising from the meningothelial cells within the arachnoid of the Sylvian fissure. SFMs are more frequent in young males, usually manifest with seizures and display the same radiological features of meningiomas in other locations. Although the absence of dural attachment makes these tumors suitable for a complete resection, their anatomical relationships with the middle cerebral artery branches have impaired its achievement in half of them. To the best of our knowledge, only five atypical WHO grade II SFMs have been previously described. We provide a literature review of SFMs WHO grades I-II and discuss common characteristics and surgical challenges we found in a similar case.

5-ALA fluorescence in intraparenchymal endodermal cysts.

In recent years, new indications have been suggested for 5-ALA, particularly for cystic lesions. We report the use of 5-ALA fluorescence in an intraparenchymal supratentorial endodermal cyst of a 52-year-old female presenting with headache, progressive right side hemiparesis and anomic aphasia. She underwent an image-guided 5-ALA-assisted left minicraniotomy for fenestration of the cystic lesion into the ventricular system. The capsule of the cyst was noted to fluoresce with 5-ALA. She recovered from the previous deficits and the cyst decreased in size. To the best of our knowledge, this is the first time 5-ALA fluorescence is reported in a case of endodermal cyst.

Epileptic features and survival in glioblastomas presenting with seizures.

INTRODUCTION: The prognostic value of seizures in patients with glioblastoma is currently under discussion. The objective of this research was to study the risk factors associated with seizures occurring at the diagnosis of glioblastoma and the role of seizures as a predictive factor for survival. MATERIAL AND METHODS: We prospectively analyzed the clinical data over the course of the disease, baseline MR imaging, and histological characteristics (p53 overexpression, the Ki67 proliferation index, and presence of the IDH1 R132H mutation), in glioblastomas treated in a single hospital from November 2012 to July 2014. The study follow-up cutoff point was October 2015. RESULTS: In total, 56 patients were recruited (57% men, mean age 57 years). Median baseline score on the Karnofsky performance scale was 80. Complete tumor debulking followed by radiochemotherapy was achieved in 58.9%. Mean survival was 13.6 months. Epileptic seizures were the presenting symptom in 26.6% of patients, and 44.6% experienced seizures at some point during the course of the disease. On multivariate analysis, the single factor predicting shorter survival was age older than 60 years (hazard ratio 3.565 (95%CI, 1.491-8.522), p=0.004). Seizures were associated with longer survival only in patients younger than 60 years (p=0.035). Younger age, the IDH1 R132H mutation, and p53 overexpression (>40%) were related to seizures at presentation. Baseline MRI findings, including tumor size, and the Ki67 proliferation index were not associated with the risk of epileptic seizures or with survival. Prophylactic antiepileptic drugs did not increase survival time. CONCLUSIONS: Seizures as the presenting symptom of glioblastoma predicted longer survival in adults younger than 60 years. The IDH1 R132H mutation and p53 overexpression (>40%) were associated with seizures at presentation. Seizures showed no relationship with the tumor size or proliferation parameters.

Third-ventricle enterogenous cyst presentation mimicking a colloid cyst: uncommon presentation of a rare disease and literature review.

Enterogenous cysts (ECs) are endodermal lesions resulting from splitting anomalies in the neuroenteric canal. We report the case of a 64-year-old patient who presented with a sudden headache followed by collapse. Brain computed tomography revealed a hyperdense lesion in the anterior part of the third ventricle with obstructive hydrocephalus. A presumptive diagnosis of colloid cyst was made and he underwent a right transcortical approach for lesion resection. The histopathological examination revealed an EC. ECs are common lesions in the cervical-thoracic spine but rare in the supratentorial compartment with only two previously described cases occurring in the third ventricle.

Non-Hodgkin lymphoma of the cauda equina: a rare entity.

Primary involvement of the spinal cord by non-Hodgkin lymphoma is exceptionally rare. We report one such case in a 46-year-old gentleman which was successfully treated with surgery and adjuvant chemotherapy.

Adequacy and quality of abdominal echographies requested by primary care professionals.

BACKGROUND: The value of abdominal echography in primary care is great because it is innocuous, inexpensive, easy to perform and provides a great deal of information making this the first examination to be requested in cases of probable abdominal disease. However, too many abdominal echographies are probably requested overcrowding the Departments of Radiodiagnosis with not always justified petitions or with repetition of tests based on little clinical criteria. METHODS/DESIGN: The aim of the study is to evaluate the adequacy and quality of abdominal echographies requested by primary care physicians in the Maresme County (North of Barcelona), develop guidelines for indicating echographies and reevaluate this adequacy after implementing these guidelines.We will perform a two-phase study: the first descriptive, and retrospective evaluating the adequacy and quality of petitions for abdominal echographies, and in the second phase we will evaluate the impact of recommendations for indicating abdominal echographies for PC physicians on the adequacy and quality of echography petitions thereafter.This study will be carried out in 10 primary care centres in the Maresme (Barcelona).1067 abdominal echographies requested by primary care physicians from the above mentioned centres from January 2007 to April 2010 and referred to the Department of Radiology and the same number of applications after the intervention.All the petitions for abdominal echographies requested will be analysed and the clinical histories will be obtained to determine demographic variables, the reason for the visit and for the echography petition and diagnostic orientation, clinical and echographic data, evaluation of the echographies according to the quality and variables characterising the professionals requesting the echographies including: age, sex, laboral situation, length of time in work post, formation, etc.To achieve a consensus of the adequacy of abdominal echography, a work group including gastroenterologists, radiologists and general practitioners will be created following the nominal group. This will allow the design of guidelines for the indication of abdominal echography and posterior evaluation of their impact among physicians by diffusion and posterior reevaluation of the adequacy of the petitions.

Prevalence and factors associated with the presence of nonalcoholic fatty liver disease in an adult population in Spain.

BACKGROUND/AIMS: The prevalence of nonalcoholic fatty liver disease (NAFLD) is unknown in Spain. The purpose of detecting NAFLD patients is to determine the associated factors and prevent its evolution to more severe forms. The aim of this study is to determine the prevalence and factors associated with NAFLD. METHODS: This is a multicentre, cross-sectional, populational study. Individuals between 15 and 85 years of age were randomly selected from 25 primary healthcare centres in the province of Barcelona, Spain. Clinical histories were reviewed, and anamnesis, physical examination, blood analysis and hepatic echography were performed. Individuals with an alcohol intake greater than 30 g/day in men and greater than 20 g/day in women or with known liver disease were excluded. RESULTS: Seven hundred and sixty-six individuals with a mean age of 53+/-14 years (range 17-83, 42.2% men) were included in the study. One hundred and ninety-eight individuals presented NAFLD with echographic criteria (prevalence 25.8, 33.4% men and 20.3% women P<0.001). On multivariate analysis, the following were associated with NAFLD: male sex [odds ratio (OR): 2.34, 95% confidence interval (95% CI): 1.57-3.49], age (OR: 1.04 per year, 95% CI: 1.02-1.05), metabolic syndrome (OR: 2.19, 95% CI: 1.29-3.72), insulin resistance (OR: 6.00, 95% CI: 3.43-10.5) and alanine aminotransferase (OR: 4.21, 95% CI: 2.23-7.95). Of the individuals who consumed alcohol, 29.4% consumed alcohol within the inclusion criteria, with a mean of 9.17+/-6.75 standard beverage units per week. Moderate alcohol intake was not related to NAFLD, although a possible protector effect was found with the quantity consumed among the drinkers who did not consume excessive amounts of alcohol (OR: 0.93 per standard beverage units, 95% CI: 0.88-0.98). CONCLUSION: NAFLD prevalence in our population is very high. Male sex, age, metabolic syndrome, insulin resistance and alanine aminotransferase are the factors associated with NAFLD. Furthermore, studies should be carried out with respect to the controversial effect of alcohol on NAFLD.

Risk factors associated with non-alcoholic fatty liver disease in subjects from primary care units. A case-control study.

BACKGROUND: Non alcoholic fatty liver disease (NAFL) consists in the accumulation of fat vacuoles in the cytoplasm of hepatocytes. Many etiologic factors are associated with NAFL, such as, the metabolic syndrome factors, medications, bariatric surgery, nutritional disorders. However, very little information is available on the clinical relevance of this disorder as a health problem in the general population. METHODS AND DESIGN: The aim of the study is establish the risk factors most frequently associated with NAFL in a general adult population assigned to the primary care units and to investigate the relationship between each component of the metabolic syndrome and the risk of having a NAFL. A population based case-control, observational and multicenter study will be carried out in 18 primary care units from the "Area de Gestión del Barcelonés Nord y Maresme" (Barcelona) attending a population of 360,000 inhabitants and will include 326 cases and 370 controls. Cases are defined as all subjects fulfilling the inclusion criteria and with evidence of fatty liver in an abdominal ultrasonography performed for any reason. One control will be randomly selected for each case from the population, matched for age, gender and primary care center. Controls with fatty liver or other liver diseases will be excluded. All cases and controls will be asked about previous hepatic diseases, consumption of alcohol, smoking and drugs, and a physical examination, biochemical analyses including liver function tests, the different components of the metabolic syndrome and the HAIR score will also be performed. Paired controls will also undergo an abdominal ultrasonography. DISCUSSION: This study will attempt to determine the factors most frequently associated with the presence of NAFL investigate the relationship between the metabolic syndrome and the risk of fatty liver and study the influence of the different primary care professionals in avoiding the evolution of the disease.

Prevalence and factors associated with the presence of non alcoholic fatty liver disease in an apparently healthy adult population in primary care units.

BACKGROUND: Fatty liver disease is characterized by the accumulation of fat vacuoles inside of the hepatocytes. Non alcoholic fatty liver is associated with obesity, type 2 diabetes, dyslipemia, the intake of certain drugs and with the so-called metabolic syndrome. However, there is little information on the clinical relevance of this disorder as a healthcare problem in the general population, since the studies published generally include a limited number of patients and the diagnosis is established on the basis of clear biochemical alterations and liver biopsy. METHODS/DESIGN: The aim of the study is the prevalence of non-alcoholic fatty liver disease in a general adult population by hepatic ultrasonography.A population-based, descriptive, transversal, multicentre study. Eighteen primary care centres of the north of Barcelona and the Maresme Areas of Healthcare Management attending an urban and semi-urban population of 360.000 inhabitants.A randomized sample of 786 subjects of 15 years or older were selected from the population and assigned to the participating centres according to the Primary Care Information System (SIAP): This population is practically the same as the general population of the area. The following determinations will be carried out in all the participants: hepatic ultrasonography to detect fatty liver, a questionnaire concerning liver diseases, alcohol intake, smoking and drug use, physical examination including abdominal perimeter and body mass index and biochemical analysis including liver function tests and parameters related to the metabolic syndrome and the HAIR score. Ultrasonographic diagnosis of fatty liver will be made according to established criteria (American Gastroenterology Association) and diagnosis of metabolic syndrome according to the criteria of the European Group for the Study of Insulin Resistance. DISCUSSION: This study will attempt to determine the prevalence of non alcoholic fatty liver disease, as well as, the factors most frequently associated with the presence of this disease to thereby achieve the most appropriate treatment and avoid the evolution of the disease.