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https://www.readbyqxmd.com/read/29448117/refractory-focal-epilepsy-in-a-paediatric-patient-with-primary-familial-brain-calcification
#1
Juliet K Knowles, Jonathan D Santoro, Brenda E Porter, Fiona M Baumer
Primary familial brain calcification (PFBC), otherwise known as Fahr's disease, is a rare autosomal dominant condition with manifestations of movement disorders, neuropsychiatric symptoms, and epilepsy in a minority of PFBC patients. The clinical presentation of epilepsy in PFBC has not been described in detail. We present a paediatric patient with PFBC and refractory focal epilepsy based on seizure semiology and ictal EEG, but with generalized interictal EEG abnormalities. The patient was found to have a SLC20A2 mutation known to be pathogenic in PFBC, as well as a variant of unknown significance in SCN2A...
February 6, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29444267/safety-of-laser-interstitial-thermal-therapy-in-patients-with-pacemakers
#2
Sanjeet S Grewal, Krzysztof R Gorny, Christopher P Favazza, Robert E Watson, Timothy J Kaufmann, Jamie J Van Gompel
BACKGROUND AND IMPORTANCE: Laser interstitial thermal therapy (LiTT) has increasingly been used as a treatment option for medically refractory epilepsy, tumors, and radiation necrosis. The use of LiTT requires intraoperative magnetic resonance (MR) thermography. This can become an issue in patients with other implanted therapeutic devices such as pacemakers and vagal nerve stimulators due to concerns regarding increases in the specific absorption rate (SAR). This is a technical case report demonstrating a successfully and safely performed LiTT in a 1...
February 10, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29425539/-quality-standards-for-ultrasonographic-assessment-of-peripheral-vascular-malformations-and-vascular-tumors-report-of-the-french-society-for-vascular-medicine-2018%C3%A2-update
#3
J P Laroche, S Blaise, F Becker, C Laaeng Massoni, M Nou-Howaldt, O Pichot, H Desmurs-Clavel, J Jeancolas, C Jurus, G Sarlon-Bartoli, V Soulier-Sotto, H Thiel, M A Sevestre-Pietri, J Maloizel-Delaunay, S Mestre-Godin
The quality standards of the French Society of Vascular Medicine for the ultrasonographic assessment of vascular malformations are based on the two following requirements: (1) technical know-how: mastering the use of ultrasound devices and the method of examination; (2) medical know-how: ability to adapt the methods and scope of the examination to its clinical indication and purpose, and to rationally analyze and interpret its results. AIMS OF THE QUALITY STANDARDS: To describe an optimal method of examination in relation to the clinical question and hypothesis...
February 2018: Journal de Médecine Vasculaire
https://www.readbyqxmd.com/read/29422849/stroke-chameleons-manifesting-as-distinct-radial-neuropathies-expertise-can-hasten-the-diagnosis
#4
Fabrício Diniz de Lima, Gustavo José Luvizutto, Arthur Oscar Schelp, Gabriel Pereira Braga, Rodrigo Bazan
Objective: Stroke chameleons encompass an atypical group of syndromes that do not initially appear to be cerebrovascular accidents. The objective of this study was to report patients with different lesions of central origin clinically presenting as wrist drop and with a semiology similar to that produced by peripheral lesions of the radial nerve at different topographical levels. Methods: This is a case series study of patients presenting with wrist drop during the acute phase of stroke who were assessed by clinical examination and CT and MRI brain scans...
September 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/29414563/genital-automatisms-reappraisal-of-a-remarkable-but-ignored-symptom-of-focal-seizures
#5
Hava Özlem Dede, Nerses Bebek, Candan Gürses, Leyla Baysal-Kıraç, Betül Baykan, Ayşen Gökyiğit
OBJECTIVES: Genital automatisms (GAs) are uncommon clinical phenomena of focal seizures. They are defined as repeated fondling, grabbing, or scratching of the genitals. The aim of this study was to determine the lateralizing and localizing value and associated clinical characteristics of GAs. METHODS: Three hundred thirteen consecutive patients with drug-resistant seizures who were referred to our tertiary center for presurgical evaluation between 2009 and 2016 were investigated...
February 1, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29414525/electrographic-and-pharmacological-characterization-of-a-progressive-epilepsy-phenotype-in-female-mecp2-deficient-mice
#6
Robert G Wither, Sinisa Colic, Berj L Bardakjian, O Carter Snead, Liang Zhang, James H Eubanks
Rett Syndrome is a neurodevelopmental disorder caused primarily by mutations in the gene encoding Methyl-CpG-binding protein 2 (MECP2). Spontaneous epileptiform activity is a common co-morbidity present in Rett syndrome, and hyper-excitable neural networks are present in MeCP2-deficient mouse models of Rett syndrome. In this study we conducted a longitudinal assessment of spontaneous cortical electrographic discharges in female MeCP2-deficient mice and defined the pharmacological responsiveness of these discharges to anti-convulsant drugs...
January 26, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29414383/mammillary-body-changes-and-seizure-outcome-after-laser-interstitial-thermal-therapy-of-the-mesial-temporal-lobe
#7
Sanjeet S Grewal, Vivek Gupta, Prasanna Vibhute, Jerry J Shih, William O Tatum, Robert E Wharen
OBJECTIVE: The mammillary bodies have long been known as the primary relay center for the hippocampus. The fornix is the primary efferent pathway of the hippocampus, with its postcommissural fibers terminating in the mammillary bodies. In this study, we describe change in mammillary body volume after laser interstitial thermal therapy (LiTT) for mesial temporal lobe epilepsy and correlate it with seizure outcome. METHODS: Pre- and post-LiTT ablation magnetic resonance imaging was reviewed in axial and coronal planes to determine mammillary body volume as calculated by the ellipsoid method...
January 31, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29403431/acquired-sleep-related-hypermotor-epilepsy-with-disrupted-white-matter-tracts-assessed-by-multishell-diffusion-magnetic-resonance-imaging
#8
Zahari N Tchopev, Ping-Hong Yeh, Greg W Morgan, Eric Meyer, Johanna M Wolf, John M Ollinger, Gerard P Riedy, Lisa C Young
Sleep-related hypermotor epilepsy (SHE) (previously frontal lobe epilepsy) is a rare seizure disorder commonly misdiagnosed or unrecognized, causing negative patient sequelae. While usually reported in familial studies, it is more commonly acquired. Diagnosis is a challenge due to its low incidence in comparison with the more common sleep disorders or psychogenic etiologies in the differential diagnosis. Diagnosis is scaled on degree of certainty based on described or clinically documented semiology, with video EEG as a helpful, but not necessary, adjunct...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29360612/intracranial-electrodes-monitoring-improves-seizure-control-and-complication-outcomes-for-patients-with-temporal-lobe-epilepsy-a-retrospective-cohort-study
#9
Yan-En Lyu, Xiao-Fei Xu, Shuang Dai, Xiao-Bo Dong, Shao-Ping Shen, Yao Wang, Chong Liu
BACKGROUND: Anterior temporal lobectomy (ATL) is the standard surgical treatment for temporal lobe epilepsy (TLE), but patients may suffer from recurrent seizures post-surgery. Invasive electrical monitoring plays a critical role in precisely identifying the epileptic foci. This study aimed to evaluate and compare the benefits of long-term invasive electroencephalography (EEG) monitoring and two-stage surgery with the classical approach to examine their effect on post-surgical brain function and complications...
January 19, 2018: International Journal of Surgery
https://www.readbyqxmd.com/read/29357371/evaluating-the-impact-of-fast-fmri-on-dynamic-functional-connectivity-in-an-event-based-paradigm
#10
Ashish Kaul Sahib, Michael Erb, Justus Marquetand, Pascal Martin, Adham Elshahabi, Silke Klamer, Serge Vulliemoz, Klaus Scheffler, Thomas Ethofer, Niels K Focke
The human brain is known to contain several functional networks that interact dynamically. Therefore, it is desirable to analyze the temporal features of these networks by dynamic functional connectivity (dFC). A sliding window approach was used in an event-related fMRI (visual stimulation using checkerboards) to assess the impact of repetition time (TR) and window size on the temporal features of BOLD dFC. In addition, we also examined the spatial distribution of dFC and tested the feasibility of this approach for the analysis of interictal epileptiforme discharges...
2018: PloS One
https://www.readbyqxmd.com/read/29336036/the-incidence-and-significance-of-periictal-apnea-in-epileptic-seizures
#11
Nuria Lacuey, Bilal Zonjy, Johnson P Hampson, M R Sandhya Rani, Anita Zaremba, Rup K Sainju, Brian K Gehlbach, Stephan Schuele, Daniel Friedman, Orrin Devinsky, Maromi Nei, Ronald M Harper, Luke Allen, Beate Diehl, John J Millichap, Lisa Bateman, Mark A Granner, Deidre N Dragon, George B Richerson, Samden D Lhatoo
OBJECTIVE: The aim of this study was to investigate periictal central apnea as a seizure semiological feature, its localizing value, and possible relationship with sudden unexpected death in epilepsy (SUDEP) pathomechanisms. METHODS: We prospectively studied polygraphic physiological responses, including inductance plethysmography, peripheral capillary oxygen saturation (SpO 2 ), electrocardiography, and video electroencephalography (VEEG) in 473 patients in a multicenter study of SUDEP...
January 16, 2018: Epilepsia
https://www.readbyqxmd.com/read/29334039/refractory-epilepsy-the-role-of-positron-emission-tomography
#12
Tommy L H Chan, Jonathan Romsa, David A Steven, Jorge G Burneo
RATIONALE: Presurgical localization of the epileptogenic focus is critical to successful surgery. Traditionally, localization of the epileptogenic focus depends on seizure semiology, scalp video-electroencephalography (vEEG), magnetic resonance imaging (MRI), neuropsychological assessment, and, when needed, intracranial EEG (iEEG). We aimed to explore the role of positron emission tomography (PET) in the presurgical evaluation of patients with refractory epilepsy. METHODS: A retrospective review was conducted on patients from London Health Sciences Centre (London, Ontario) with refractory epilepsy who underwent PET from September of 2011 to April of 2016...
January 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29327337/generalized-nonmotor-absence-seizures-what-do-absence-generalized-and-nonmotor-mean
#13
REVIEW
Iris Unterberger, Eugen Trinka, Peter W Kaplan, Gerald Walser, Gerhard Luef, Gerhard Bauer
OBJECTIVE: Clinical absences are now classified as "generalized nonmotor (absence) seizures" by the International League Against Epilepsy (ILAE). The aim of this paper is to critically review the concept of absences and to put the accompanying focal and motor symptoms into the context of the emerging pathophysiological knowledge. METHODS: For this narrative review we performed an extensive literature search on the term "absence," and analyzed the plethora of symptoms observed in clinical absences...
January 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29307326/neurolymphomatosis-of-the-brachial-plexus-and-its-branches-case-series-and-literature-review
#14
Pierre R Bourque, Jodi Warman Chardon, Mark Bryanton, Melissa Toupin, Bruce F Burns, Carlos Torres
BACKGROUND: Neurolymphomatosis is a process of neoplastic endoneurial invasion, most strongly associated with non-Hodgkin's lymphoma. It must be distinguished from paraneoplastic, metabolic, nutritional and treatment-related causes of neuropathy that are common in this patient population. METHODS: This brief case series illustrates the protean manifestations of neurolymphomatosis of the brachial plexus, ranging from focal distal mononeuropathy to multifocal brachial plexopathy, either as the index manifestation of lymphoma or as a complication of relapsing disease...
January 8, 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29288902/diagnostic-evaluation-and-surgical-management-of-pediatric-insular-epilepsy-utilizing-magnetoencephalography-and-invasive-eeg-monitoring
#15
Raheel Ahmed, Hiroshi Otsubo, Carter Snead, Elizabeth Donner, Elysa Widjaja, Ayako Ochi, James M Drake, James T Rutka
INTRODUCTION: The diagnosis and surgical management of pediatric patients with insular epilepsy is challenging due to variable and indistinct seizure semiology arising within the insular cortex. In addition, surgical approaches are associated with potential morbidity given the regional neurosurgical and vascular anatomy. Our institutional experience in evaluation and surgical management of insular epilepsy patients is presented. Diagnostic evaluation, surgical treatment and seizures outcomes are highlighted...
December 20, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29282444/obstructive-sleep-apnea-presenting-as-non-epileptic-spells-a-unique-combination
#16
Prashant Natteru, Chintan Rupareliya, Xiangping Zhou, Pradeep C Bollu
Obstructive sleep apnea (OSA), an increasingly prevalent sleep disorder, has been extensively studied in both clinical and scientific settings. In most cases, the diagnosis of sleep apnea is straightforward with patients having symptoms of snoring, choking or gasping for air while asleep and witnessed apneas. However, sleep apnea is known to present in some unusual ways. We present a case of a 61-year-old male, with recently diagnosed obstructive sleep apnea (currently not on continuous positive airway pressure (CPAP)) and a history of seizure-like events since the age of 18 years, who came to the epilepsy monitoring unit (EMU) for spell characterization of his frequent seizure-like episodes...
October 24, 2017: Curēus
https://www.readbyqxmd.com/read/29258969/a-case-of-anti-nmda-receptor-encephalitis-revealed-by-insular-epilepsy
#17
Charlotte De Maeseneire, Riem El Tahry, Susana Ferrao Santos
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder of the central nervous system that typically manifests predominantly as a psychiatric disorder. However, other manifestations such as epileptic seizures, abnormal movements, and memory or language complications are not unusual. Here, we report the case of a young man who presented with a new-onset epilepsy, with ictal semiology suggestive of insular involvement; this hypothesis was supported by a PET-CT study. Anti-NMDAR antibodies were found in the CSF, confirming the diagnosis of anti-NMDAR encephalitis...
December 20, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29258968/refractory-chronic-epilepsy-associated-with-neuronal-auto-antibodies-could-perisylvian-semiology-be-a-clue
#18
Lisa Gillinder, Linda Tjoa, Basil Mantzioris, Stefan Blum, Sasha Dionisio
We report a case series of 10 patients with chronic medically refractory antibody-positive autoimmune epilepsy and assess their common clinical features. Immune-mediated seizures are most commonly reported in the context of encephalitis or encephalopathy, with few reports focusing on lone, chronic epilepsy in the outpatient setting. Our aim was to define the potential diagnostic clues that might be present in these cases, leading to consideration of an autoimmune cause of the epilepsy. We performed a retrospective review of all patients presenting to the outpatient department of our unit who underwent autoimmune screening...
December 20, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29258967/occipital-ulegyria-causing-epilepsy-and-visual-impairment-an-easily-overlooked-epilepsy-syndrome
#19
Antoinette O'Connor, Daniel J Costello
Ulegyria refers to scarring of the cerebral cortex usually arising from perinatal ischaemia. The scarring has a specific configuration in which small atrophic circumvolutions at the bottom of a sulcus underlie an intact spared gyral apex. This disconnection of overlying cortex may allow an "epileptogenic" island of cortex to generate seizures. Ulegyria is often associated with epilepsy and developmental delay, however, the syndromic association of visual impairment with epilepsy due to occipital ulegyria may not be recognised as a specific entity...
December 20, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29249450/perfusion-defects-in-pulmonary-perfusion-iodine-maps-causes-and-semiology
#20
A Bustos Fiore, M González Vázquez, C Trinidad López, D Mera Fernández, M Costas Álvarez
OBJECTIVE: to describe the usefulness of dual-energy CT for obtaining pulmonary perfusion maps to provide morphological and functional information in patients with pulmonary embolisms. To review the semiology of perfusion defects due to pulmonary embolism so they can be differentiated from perfusion defects due to other causes: alterations outside the range used in the iodine map caused by other diseases of the lung parenchyma or artifacts. CONCLUSION: CT angiography of the pulmonary arteries is the technique of choice for the diagnosis of pulmonary embolisms...
December 14, 2017: Radiología
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