Read by QxMD icon Read


Sofiene Bouali, Nidhal Maatar, Alia Zehani, Maha Mahmoud, Jalel Kallel, Hafedh Jemel
Background: Anaplastic posterior fossa ganglioglioma in adults is exceedingly rare. To date, only one case of adult anaplastic posterior fossa ganglioglioma has been reported in the English literature and none has been described at the cerebellum. To our knowledge, this report is the third case of malignant posterior fossa ganglioglioma in adults and the first at the cerebellum. In general, this entity can be misdiagnosed preoperatively as a primary posterior fossa neoplasm, and by reporting our clinical and radiographic observations we want to add to the existing literature on this rare entity...
2018: Surgical Neurology International
Karl Roessler, Burkhard S Kasper, Roland Coras, Soheil Arinrad, Michael Scholz, Hajo H Hamer, Ingmar Blümcke, Michael Buchfelder
BACKGROUND: Temporal lobe resection (TLR) including amygdalo-hippocampectomy (AHE) is the most frequent performed procedure in epilepsy surgery. Due to close anatomical relationship of the mesial temporal structures and the midbrain and choroidal fissure, the risk of severe complications like postoperative stroke is up to 2.5%. METHODS: We developed a modification of the classical technique for AHE by early entering the choroidal fissure for identification of crus cerebri, posterior cerebri artery and oculomotor nerve via the anterior part of the fronto- mesial temporal horn cleft...
March 7, 2018: World Neurosurgery
Nitya Prabhakaran, Miguel A Guzman, Pournima Navalkele, Edna Chow-Maneval, Jacqueline R Batanian
Gangliogliomas are rare neoplasms of the central nervous system that mostly originate in the temporal lobe and are associated with seizures. Literature mentions that BRAF mutations are most commonly associated with gangliogliomas. We discuss a unique case of ganglioglioma originating in the posterior fossa that showed multiple losses and a unique interstitial deletion at 9q21 by an array-comparative genome hybridization (array-CGH). The deletion led to a novel molecular fusion (TLE4-NTRK2) which was confirmed by next generation sequencing and provides a potential for a gene-targeted therapy...
March 4, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Bruno Niemeyer, Edson Marchiori
No abstract text is available yet for this article.
March 2, 2018: European Neurology
Aurore Bussat, Maia Proisy, Bertrand Bruneau, Guillaume Bouzillé, Céline Chappé, Laurent Riffaud
OBJECTIVE Tumor-related edema of the optic tract (EOT) corresponds to a preferential posterior distribution of peritumoral edema along the white matter tract of the visual system. To date, the consequences of EOT have never been evaluated specifically in the pediatric population. In this study, the authors attempted to identify clinical and radiological features associated with the development of EOT and the specific influence of this edema on visual function. METHODS A retrospective review was performed of data collected from patients younger than 18 years who underwent surgery for a tumor in the sellar region at the authors' institution between January 2005 and January 2016...
March 2, 2018: Journal of Neurosurgery. Pediatrics
Raja K Kutty, Jacob Paul Alapatt, Aparna Govindan
Yawning, a physiologic reflex exhibited by vertebrates, is seldom noticed as a symptom of a disease. Not too often is a patient aware of it as a symptom, unless it is of such a distressing nature to seek attention. In this situation, to distinguish between normal and abnormal behavior would pose a diagnostic dilemma for the attending physician. Intractable yawning has been a presenting symptom of many pathologic states such as stroke, epilepsy, and migraine. Literature is sparse regarding intractable yawning caused by tumors of the brain...
January 2018: Asian Journal of Neurosurgery
Isabella Tondi Resta, Arminder Singh, Bruce C Gilbert, Mumtaz V Rojiani, Cargill Alleyne, Amyn M Rojiani
This case study describes a young man with symptoms suggestive of the presence of a space-occupying lesion within the cranial cavity. Imaging studies confirmed a lesion in the suprasellar region and surgical intervention to remove the tumor yielded an unexpected diagnosis. Neuroimaging characteristics and histopathology including immunohistochemistry are described. Gangliogliomas are uncommon CNS neoplasms and are most commonly found in the temporal and frontal lobes of young, male adults. They are rarely seen in the suprasellar region and only a handful of cases have been reported to date...
2018: Case Reports in Pathology
Koyo Ohno, Yoshiaki Saito, Akiko Tamasaki-Kondo, Atsushi Kambe, Yasushi Horie, Shinsuke Kato, Yoshihiro Maegaki
We report the case of a 19-year-old female with cerebellar ganglioglioma that was diagnosed at 4 years of age. Despite treatment with partial resection, radiation, and chemotherapy, residual tumor slowly expanded into the brainstem and upper cervical cord, resulting in nocturnal hypopnea, progressive tetraparesis, and feeding difficulty during 8-10 years of age. Initiation of temozolomide and bevacizumab was effective in preventing further expansion of the tumor, and the patient has been treated at home and in school with noninvasive positive pressure ventilation and gastrostomy...
December 2017: Yonago Acta Medica
Katherine E Miller, Benjamin Kelly, James Fitch, Nicole Ross, Matthew R Avenarius, Elizabeth Varga, Daniel C Koboldt, Daniel R Boue, Vincent Magrini, Scott L Coven, Jonathan L Finlay, Catherine E Cottrell, Peter White, Julie M Gastier-Foster, Richard K Wilson, Jeffrey Leonard, Elaine R Mardis
Gangliogliomas [WHO grade I] are rare tumors affecting the central nervous system and are most frequently observed in children. Genome sequencing of tumors is being utilized at an increasing rate in both research and clinical settings to characterize the genetic factors that drive tumorigenesis. Here, we report a rare BRAF somatic mutation (NM_004333.4:c.1794_1796dupTAC; p.Thr599dup) in the tumor genome from a pediatric patient in her late teens, who was initially diagnosed with low-grade ganglioglioma at age 13...
February 6, 2018: Cold Spring Harbor Molecular Case Studies
Bette K Kleinschmidt-DeMasters, Jean M Mulcahy Levy
BACKGROUND: H3 K27M mutation was originally described in pediatric diffuse intrinsic pontine gliomas (DIPGs), but has been recently recognized to occur also in adult midline diffuse gliomas, as well as midline tumors with other morphologies, including gangliogliomas (GGs), anaplastic GGs, pilocytic astrocytomas (PAs), and posterior fossa ependymomas. In a few patients with H3 K27M-mutant tumors with these alternate morphologies, longer survival has been reported, making grading difficult for the neuropathologist...
February 2, 2018: Clinical Neuropathology
Asher M Marks, Ranjit S Bindra, Michael L DiLuna, Anita Huttner, Vikram Jairam, Kristopher T Kahle, Mark W Kieran
Efficacy of BRAF V600E targeted therapies in brain tumors harboring the mutation has been shown in several case reports and is currently being studied in larger clinical trials. Monotherapy with vemurafenib has been associated with significant side effects, including rashes, papillomas, and squamous cell carcinomas. Here we describe an adolescent female with anaplastic ganglioglioma and significant skin reaction to vemurafenib with subsequent tumor response and tolerance to the BRAF/MEK inhibitor combination of dabrafenib and trametinib without recurrence of previous reaction...
January 30, 2018: Pediatric Blood & Cancer
Julien Detour, Caroline Bund, Charles Behr, Hélène Cebula, Ercument A Cicek, Maria-Paola Valenti-Hirsch, Béatrice Lannes, Benoît Lhermitte, Astrid Nehlig, Pierre Kehrli, François Proust, Edouard Hirsch, Izzie-Jacques Namer
OBJECTIVE: Within a complex systems biology perspective, we wished to assess whether hippocampi with established neuropathological features have distinct metabolome. Apparently normal hippocampi with no signs of sclerosis (noHS), were compared to hippocampal sclerosis (HS) type 1 (HS1) and/or type 2 (HS2). Hippocampus metabolome from patients with epilepsy-associated neuroepithelial tumors (EANTs), namely, gangliogliomas (GGs) and dysembryoplastic neuroepithelial tumors (DNTs), was also compared to noHS epileptiform tissue...
January 17, 2018: Epilepsia
Kay O Kulason, Julia R Schneider, Ralph Rahme, Bidyut Pramanik, Derek Chong, John A Boockvar
BACKGROUND: Ganglioglioma is a rare, benign, intraaxial glioneuronal tumor, but a relatively common cause of pharmacoresistant temporal lobe epilepsy (TLE). Given its often nonspecific neuropsychiatric manifestations and frequently negative electroencephalographic workup, TLE can be easily misdiagnosed as a psychiatric disorder, particularly panic attacks. CASE DESCRIPTION: We present a case of a 17-year old boy who was found to have lesional TLE secondary to a left temporal ganglioglioma, 5 years after having been misdiagnosed with panic disorder and undergone ineffective and unnecessary psychotherapy...
December 27, 2017: World Neurosurgery
Shai Shrot, Misun Hwang, Carl E Stafstrom, Thierry A G M Huisman, Bruno P Soares
The current classification of malformations of cortical development is based on the type of disrupted embryological process (cell proliferation, migration, or cortical organization/post-migrational development) and the resulting morphological anomalous pattern of findings. An ideal classification would include knowledge of biological pathways. It has recently been demonstrated that alterations affecting the mechanistic target of rapamycin (mTOR) signaling pathway result in diverse abnormalities such as dysplastic megalencephaly, hemimegalencephaly, ganglioglioma, dysplastic cerebellar gangliocytoma, focal cortical dysplasia type IIb, and brain lesions associated with tuberous sclerosis...
December 26, 2017: Neuroradiology
Ilaria Mancini, Antonino Rotilio, Irene Coati, Renato Seracchioli, Valentina Martelli, Maria Cristina Meriggiola
The administration of cyproterone acetate (CPA) and estradiol is a common regimen used by male-to-female transsexuals (transwoman) to adjust their body to their gender identity. Major adverse events are uncommon in these subjects in spite of long-term, high dose cross-sex steroid treatments. We describe the occurrence of a meningioma in a transwoman treated with estrogens and CPA over a period of nine years. The meningioma was revealed during a magnetic resonance imaging (MRI) scan performed as follow-up of a previous surgery for ganglioglioma...
November 5, 2017: Gynecological Endocrinology
Leiming Wang, Zhuo Li, Cuicui Liu, Li Chen, Li Liu, Zeliang Hu, Lihong Zhao, Dehong Lu, Lianghong Teng
MGMT promoter methylation is considered as a prognostic and predictive biomarker indicating response to chemotherapy and radiotherapy in glioblastoma. A number of different methods and platforms including pyrosequencing (PSQ), quantitative methylation-specific PCR (qMSP) and immunohistochemistry (IHC), methylation-sensitive high resolution melting (MS-HRM) and NGS (Next Generation Sequencing) have been used to detect MGMT promoter methylation in gliomas. However, controversy remains about the most appropriate method to use for analyzing MGMT status...
October 10, 2017: Pathology, Research and Practice
Ingmar Blumcke, Roberto Spreafico, Gerrit Haaker, Roland Coras, Katja Kobow, Christian G Bien, Margarete Pfäfflin, Christian Elger, Guido Widman, Johannes Schramm, Albert Becker, Kees P Braun, Frans Leijten, Johannes C Baayen, Eleonora Aronica, Francine Chassoux, Hajo Hamer, Hermann Stefan, Karl Rössler, Maria Thom, Matthew C Walker, Sanjay M Sisodiya, John S Duncan, Andrew W McEvoy, Tom Pieper, Hans Holthausen, Manfred Kudernatsch, H Joachim Meencke, Philippe Kahane, Andreas Schulze-Bonhage, Josef Zentner, Dieter H Heiland, Horst Urbach, Bernhard J Steinhoff, Thomas Bast, Laura Tassi, Giorgio Lo Russo, Cigdem Özkara, Buge Oz, Pavel Krsek, Silke Vogelgesang, Uwe Runge, Holger Lerche, Yvonne Weber, Mrinalini Honavar, José Pimentel, Alexis Arzimanoglou, Adriana Ulate-Campos, Soheyl Noachtar, Elisabeth Hartl, Olaf Schijns, Renzo Guerrini, Carmen Barba, Thomas S Jacques, J Helen Cross, Martha Feucht, Angelika Mühlebner, Thomas Grunwald, Eugen Trinka, Peter A Winkler, Antonio Gil-Nagel, Rafael Toledano Delgado, Thomas Mayer, Martin Lutz, Basilios Zountsas, Kyriakos Garganis, Felix Rosenow, Anke Hermsen, Tim J von Oertzen, Thomas L Diepgen, Giuliano Avanzini
BACKGROUND: Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding drug-resistant focal epilepsy. METHODS: We report the diagnoses made on the basis of resected brain specimens from 9523 patients who underwent epilepsy surgery for drug-resistant seizures in 36 centers from 12 European countries over 25 years. Histopathological diagnoses were determined through examination of the specimens in local hospitals (41%) or at the German Neuropathology Reference Center for Epilepsy Surgery (59%)...
October 26, 2017: New England Journal of Medicine
H Wang, J T Ye, H X Yao, D Li, Y Dong
Dysembryoplastic neuroepithelial tumor (DNT) has traditionally been viewed as rare benign tumors that present with seizure widely considered curable with surgery alone. Most DNTs occur in childhood and young adults. However, rare reported cases occur in infants. This paper reported an infant case of DNT and its diagnosis, differential diagnosis, treatment, molecular features and prognosis based on the review of current literatures. The age onset of this patient was only 11 months old. The clinical manifestations were partial seizures and the imaging data untypical; CT and MRI were all supportive of astrocytoma...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
Aliya Al-Hajri, Salim Al-Mughairi, Alyma Somani, Shu An, Joan Liu, Anna Miserocchi, Andrew W McEvoy, Tarek Yousry, Chandrashekar Hoskote, Maria Thom
It is recognized that IDH mutation negative, low-grade epilepsy associated tumors (LEAT) can show diffuse growth patterns and lack the diagnostic hallmarks of either classical dysembryoplastic neuroepithelial tumors (DNT) or typical ganglioglioma. "Nonspecific or diffuse DNT" and more recently "polymorphous low-grade neuroepithelial tumor of the young" have been terms used for these entities. There are few reports on the MRI recognition of these diffuse glioneuronal tumors (dGNT), which is important in planning the extent of surgical resection...
December 1, 2017: Journal of Neuropathology and Experimental Neurology
Michael C Burger, Michael W Ronellenfitsch, Nadja I Lorenz, Marlies Wagner, Martin Voss, David Capper, Theophilos Tzaridis, Ulrich Herrlinger, Joachim P Steinbach, Gabriele Stoffels, Karl-Josef Langen, Christian Brandts, Christian Senft, Patrick N Harter, Oliver Bähr
BRAF V600E mutations occur frequently in malignant melanoma, but are rare in most malignant glioma subtypes. Besides, more benign brain tumors such as ganglioglioma, dysembryoblastic neuroepithelial tumours and supratentorial pilocytic astrocytomas, only pleomorphic xanthoastrocytomas (50-78%) and epitheloid glioblastoma (50%) regularly exhibit BRAF mutations. In the present study, we report on three patients with recurrent malignant gliomas harbouring a BRAF V600E mutation. All patients presented with markedly disseminated leptomeningeal disease at recurrence and had progressed after radiotherapy and alkylating chemotherapy...
October 2, 2017: Oncology Reports
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"