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Brain malformation

F Heran Dreyfus, O Galatoire, P Koskas, F Lafitte, E Nau, O Bergès
Orbito-palpebral vascular pathology represents 10% of all the diseases of this area. The lesion may be discovered during a brain CT scan or MRI, or because it causes clinical symptoms such as orbital mass, visual or oculomotor alteration, pain, proptosis, or acute bleeding due to a complication of the lesion (hemorrhage, thrombosis). We present these lesions using an anatomical, clinical, imaging and therapeutic approach. We distinguish four different entities. Vascular tumors have common imaging characteristics (hypersignal on T2 sequence, contrast enhancement, abnormal vascularization well depicted with ultrasound and Doppler, and possible bleeding)...
October 18, 2016: Journal Français D'ophtalmologie
Waleed Brinjikji, Vivek N Iyer, Christopher P Wood, Giuseppe Lanzino
OBJECTIVE Patients with hereditary hemorrhagic telangiectasia (HHT) are known to suffer from high rates of cerebral arteriovenous malformations (AVMs). The authors performed a systematic review and meta-analysis of the literature examining prevalence rates, characteristics, and clinical presentation of cerebral AVMs in the HHT population. METHODS To identify studies on AVM prevalence and characteristics in the HHT population, 4 databases (MEDLINE, EMBASE, Scopus and Web of Science) were searched by a reference librarian with over 30 years experience in systematic reviews and meta-analysis...
October 21, 2016: Journal of Neurosurgery
Matthew T Whitehead, Guy Helman, Andrea L Gropman
Xp21.2 duplication syndrome is a rare genetic disorder of undetermined prevalence and clinical relevance. As the use of chromosomal microarray has become first line for the work-up of childhood developmental delay, more gene deletions and duplications have been recognized. To the best of our knowledge, the imaging findings of Xp21.2 duplication syndrome have not been reported. We report a case of a 33 month-old male referred for developmental delay that was found to have an Xp21.2 duplication containing IL1RAPL1 and multiple midline brain malformations...
May 2016: Journal of Radiology Case Reports
Tilman Schubert, Yijing Wu, Kevin M Johnson, Oliver Wieben, Jane Maksimovic, Charles Mistretta, Patrick Turski
OBJECTIVES: Time-of-arrival (TOA) maps can be derived from high-resolution 4-dimensional (4D) contrast-enhanced magnetic resonance angiography (MRA) data sets to provide a quantitative description of contrast material arrival time in each voxel. This information can further be processed to create a compressed time evolution curve that virtually shortens the contrast bolus (virtual bolus [VB]). The purpose of this project was to determine whether TOA-enhanced 4D MRA and/or VB imaging improve the display of contrast kinetics in patients with vascular disease...
November 2016: Investigative Radiology
Thomas Beez, Jennifer Brown
BACKGROUND: Atlanto-occipital dislocation (AOD) is a rare but severe sequela of high energy trauma. Children are at increased risk, due to their immature spine and biomechanical characteristics. LITERATURE REVIEW: The prevailing mechanism of injury is motor vehicle collision as passenger. AOD commonly presents with cardiorespiratory arrest, spinal cord injury or cranial nerve deficits. Concomitant injuries, such as traumatic brain injury, are frequently encountered...
October 18, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Sven Haller, Greg Zaharchuk, David L Thomas, Karl-Olof Lovblad, Frederik Barkhof, Xavier Golay
Arterial spin labeling (ASL) is a magnetic resonance (MR) imaging technique used to assess cerebral blood flow noninvasively by magnetically labeling inflowing blood. In this article, the main labeling techniques, notably pulsed and pseudocontinuous ASL, as well as emerging clinical applications will be reviewed. In dementia, the pattern of hypoperfusion on ASL images closely matches the established patterns of hypometabolism on fluorine 18 fluorodeoxyglucose (FDG) positron emission tomography (PET) images due to the close coupling of perfusion and metabolism in the brain...
November 2016: Radiology
Theresa Scholl, Angelika Mühlebner, Gerda Ricken, Victoria Gruber, Anna Fabing, Sharon Samueli, Gudrun Gröppel, Christian Dorfer, Thomas Czech, Johannes A Hainfellner, Avanita S Prabowo, Roy J Reinten, Lisette Hoogendijk, Jasper J Anink, Eleonora Aronica, Martha Feucht
Conventional antiepileptic drugs suppress the excessive firing of neurons during seizures. In drug-resistant patients, treatment failure indicates an alternative important epileptogenic trigger. Two epilepsy-associated pathologies show myelin deficiencies in seizure-related brain regions: Focal Cortical Dysplasia IIB (FCD) and cortical tubers in Tuberous Sclerosis Complex (TSC). Studies uncovering white matter-pathology mechanisms are therefore urgently needed to gain more insight into epileptogenesis, the propensity to maintain seizures, and their associated comorbidities such as cognitive defects...
October 17, 2016: Brain Pathology
Didier Bessis, Michèle Bigorre, Nausicaa Malissen, Guillaume Captier, Christine Chiaverini, Claire Abasq, Sébastien Barbarot, Olivia Boccara, Emmanuelle Bourrat, Hassan El Fertit, Catherine Eschard, Thomas Hubiche, Jean-Philippe Lacour, Nicolas Leboucq, Emmanuel Mahé, Stéphanie Mallet, Myriam Marque, Ludovic Martin, Juliette Mazereeuw-Hautier, Nathalie Milla, Alice Phan, Patrice Plantin, Marie-Christine Picot, Eve Puzenat, Valérie Rigau, Pierre Vabres, Sylvie Fraitag, Franck Boralevi
BACKGROUND: Hair collar sign (HCS) and hair tuft of the scalp (HTS) are cutaneous signs of an underlying neuroectodermal defect, but most available data are based on case reports. OBJECTIVE: We sought to define the clinical spectrum of HCS and HTS, clarify the risk for underlying neurovascular anomalies, and provide imaging recommendations. METHODS: A 10-year multicenter retrospective and prospective analysis of clinical, radiologic, and histopathologic features of HCS and HTS in pediatric patients was performed...
October 11, 2016: Journal of the American Academy of Dermatology
Jennifer W McVige
PURPOSE OF REVIEW: Intracranial congenital malformations are anomalies of brain development caused by genetic and environmental influences. This article discusses common intracranial congenital malformations, presents the associated neuroimaging findings, and discusses how appropriate identification of intracranial anomalies can impact diagnosis and treatment. RECENT FINDINGS: Advances in neuroimaging techniques and genetic research have led to a better understanding of the pathogenesis of many congenital malformations, adding insight into their clinical relevance and the intricate relationship between critical periods of development, genetic predisposition, and environmental insults...
October 2016: Continuum: Lifelong Learning in Neurology
Samuel Lapalme-Remis, Gregory D Cascino
PURPOSE OF REVIEW: This article discusses structural and functional neuroimaging findings in patients with seizures and epilepsy. The indications for neuroimaging in these patients and the potential diagnostic utility of these studies are presented. RECENT FINDINGS: Patients presenting with new seizures typically require urgent imaging to rule out a critical underlying cause. MRI is the structural neuroimaging procedure of choice in individuals with epilepsy. Specific epilepsy protocols should be considered to increase the diagnostic yield of neuroimaging in patients with structural lesions associated with focal or generalized seizures...
October 2016: Continuum: Lifelong Learning in Neurology
Concetta Scimone, Placido Bramanti, Alessia Ruggeri, Luigi Donato, Concetta Alafaci, Concetta Crisafulli, Massimo Mucciardi, Carmela Rinaldi, Antonina Sidoti, Rosalia D'Angelo
BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular anomalies of the nervous system mostly located in the brain presenting sporadically or familial. Causes of familial forms are mutations in CCM1 (Krit1), CCM2 (MGC4607) and CCM3 (PDCD10) genes. Sporadic forms with no affected relative most often have only one lesion and no germ line mutations. However, a number of sporadic cases with multiple lesions have been reported and are indeed genetic cases with a de novo mutation or a mutation inherited from an asymptomatic parent...
October 13, 2016: BMC Medical Genetics
Eveline Teresa Hidalgo, Howard L Weiner
New developments in diagnostic methods, technical improvements in the surgical field, and a better understanding of the effects of epilepsy on the developing brain are contributing to the general observation that more children with epilepsy are being treated surgically. Malformations of cortical development are the most common cause of seizures in pediatric surgical candidates, and the best predictor of seizure freedom after surgery appears to be the complete removal of the epileptogenic lesion. To achieve this goal in challenging cases, such as magnetic resonance imaging-negative or multifocal lesions, a staged approach with pre- and/or post-resective invasive electroencephalography monitoring has increasingly been used at a number of centers...
October 11, 2016: Developmental Medicine and Child Neurology
Edith V Sullivan, Barton Lane, Dongjin Kwon, M J Meloy, Susan F Tapert, Sandra A Brown, Ian M Colrain, Fiona C Baker, Michael D De Bellis, Duncan B Clark, Bonnie J Nagel, Kilian M Pohl, Adolf Pfefferbaum
Structural MRI of volunteers deemed "normal" following clinical interview provides a window into normal brain developmental morphology but also reveals unexpected dysmorphology, commonly known as "incidental findings." Although unanticipated, these anatomical findings raise questions regarding possible treatment that could even ultimately require neurosurgical intervention, which itself carries significant risk but may not be indicated if the anomaly is nonprogressive or of no functional consequence. Neuroradiological readings of 833 structural MRI from the National Consortium on Alcohol and NeuroDevelopment in Adolescence (NCANDA) cohort found an 11...
October 8, 2016: Brain Imaging and Behavior
Hongzhi Xu, Zhiyong Qin, Ming Xu, Chunjui Chen, Junjie Zhang, Xiancheng Chen
BACKGROUND: Intraoperative ultrasound is widely used in neurosurgery for the management of intracerebral hematoma and brain tumor. However, the clinical value of this method in the surgery of cerebral arteriovenous malformations (AVMs) has not been reported. In this study, the application of intraoperative ultrasound for AVMs surgery was evaluated prospectively. METHODS: This prospective clinical study comprised of 41 patients who underwent microsurgical resection of cerebral AVMs at our institute...
October 3, 2016: World Neurosurgery
Ryuya Yamanaka, Azusa Hayano, Tomohiko Kanayama
By conducting a systemic search of the PubMed database, we performed a comprehensive literature review to characterize secondary gliomas following radiotherapy treatment and to determine the most appropriate treatment strategy. Our analysis included 296 cases of radiation-induced gliomas. The primary lesion was characterized as a hematological malignancy in 104 cases (35.1 %), pituitary adenoma in 35 (11.8 %), craniopharyngioma in 19 (6.4 %), medulloblastoma in 38 (12.8 %), germ cell tumor in 13 (4.3 %), low-grade glioma in 28 (9...
October 5, 2016: Neurosurgical Review
Wen-Qing Huang, Cong-Xia Lu, Ya Zhang, Ke-Hui Yi, Liang-Liang Cai, Ming-Li Li, Han Wang, Qing Lin, Chi-Meng Tzeng
Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma. Familial CCMs (FCCMs) is inherited in an autosomal dominant pattern with incomplete penetrance and variable symptoms. Methods: Mutations of three pathogenic genes, CCM1, CCM2, and CCM3, were investigated by direct DNA sequencing in a Chinese family with multiple CCM lesions...
2016: Frontiers in Aging Neuroscience
Simon Früh, Jennifer Romanos, Patrizia Panzanelli, Daniela Bürgisser, Shiva K Tyagarajan, Kevin P Campbell, Mirko Santello, Jean-Marc Fritschy
: Distinct types of GABAergic interneurons target different subcellular domains of pyramidal cells, thereby shaping pyramidal cell activity patterns. Whether the presynaptic heterogeneity of GABAergic innervation is mirrored by specific postsynaptic factors is largely unexplored. Here we show that dystroglycan, a protein responsible for the majority of congenital muscular dystrophies when dysfunctional, has a function at postsynaptic sites restricted to a subset of GABAergic interneurons...
October 5, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Paria Kashani, Madan Roy, Linda Gillis, Olufemi Ajani, M Constantine Samaan
A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I) with hydrocephalus requiring neurosurgical intervention...
2016: Case Reports in Medicine
Adriana Suely de Oliveira Melo, Renato Santana Aguiar, Melania Maria Ramos Amorim, Monica B Arruda, Fabiana de Oliveira Melo, Suelem Taís Clementino Ribeiro, Alba Gean Medeiros Batista, Thales Ferreira, Mayra Pereira Dos Santos, Virgínia Vilar Sampaio, Sarah Rogéria Martins Moura, Luciana Portela Rabello, Clarissa Emanuelle Gonzaga, Gustavo Malinger, Renato Ximenes, Patricia Soares de Oliveira-Szejnfeld, Fernanda Tovar-Moll, Leila Chimelli, Paola Paz Silveira, Rodrigo Delvechio, Luiza Higa, Loraine Campanati, Rita M R Nogueira, Ana Maria Bispo Filippis, Jacob Szejnfeld, Carolina Moreira Voloch, Orlando C Ferreira, Rodrigo M Brindeiro, Amilcar Tanuri
Importance: Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. Objective: To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil...
October 3, 2016: JAMA Neurology
Dale Ding, Stefan Brew, Ben McGuinness, Edward W Mee
No abstract text is available yet for this article.
October 2016: Journal of Neurosciences in Rural Practice
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