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https://www.readbyqxmd.com/read/28633092/epilepsy-in-neurofibromatosis-type-1
#1
Anthony Pecoraro, Eric Arehart, William Gallentine, Rodney Radtke, Edward Smith, Carolyn Pizoli, Sujay Kansagra, Elie Abdelnour, Roger McLendon, Mohamad A Mikati
OBJECTIVES: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). METHODS: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. RESULTS: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant)...
June 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28621626/a-multimodal-concept-for-invasive-diagnostics-and-surgery-based-on-neuronavigated-voxel-based-morphometric-mri-postprocessing-data-in-previously-nonlesional-epilepsy
#2
Daniel Delev, Carlos M Quesada, Alexander Grote, Jan P Boström, Christian Elger, Hartmut Vatter, Rainer Surges
OBJECTIVE Diagnosis and surgical treatment of refractory and apparent nonlesional focal epilepsy is challenging. Morphometric MRI voxel-based and other postprocessing methods can help to localize the epileptogenic zone and thereby support the planning of further invasive electroencephalography (EEG) diagnostics, and maybe resective epilepsy surgery. METHODS The authors developed an algorithm to implement regions of interest (ROI), based on postprocessed MRI data, into a neuronavigation tool. This was followed by stereotactic ROI-guided implantation of depth electrodes and ROI-navigated resective surgery...
June 16, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28612056/critical-appraisal-of-the-top-down-approach-for-vesicoureteral-reflux
#3
REVIEW
Ahmed Abdelhalim, Antoine E Khoury
Vesicoureteral reflux (VUR) has been linked to recurrent urinary tract infections (UTIs), renal scarring, hypertension, renal insufficiency and end-stage kidney disease. Different imaging strategies have been proposed to approach children presenting with UTI to sort out patients with significant VUR while minimizing patient morbidity, radiation exposure and financial burden. None of these imaging strategies is universally accepted. The"top-down approach" (TDA) aims at restricting the number of voiding cystourethrograms (VCUGs) and its associated morbidity while identifying patients with clinically-significant reflux...
June 2017: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/28609639/the-iliofemoral-line-a-radiographic-sign-of-acetabular-dysplasia-in-the-adult-hip
#4
Matthew J Kraeutler, Zachary R Ashwell, Tigran Garabekyan, Jesse A Goodrich, K Linnea Welton, Jonathan A Flug, John N O'Hara, Omer Mei-Dan
BACKGROUND: Several radiographic parameters utilized for the diagnosis of acetabular dysplasia in adults suffer from poor reproducibility and reliability. PURPOSE: To define and validate a novel radiographic parameter (the iliofemoral line [IFL]) for the detection of frank and borderline hip dysplasia and to compare the sensitivity and specificity of this radiographic marker to those of previously validated qualitative parameters. STUDY DESIGN: Cohort study (diagnosis); Level of evidence, 2...
June 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28601171/a-practical-approach-to-supratentorial-brain-malformations-what-radiologists-should-know
#5
REVIEW
Edward Yang, Winnie C W Chu, Edward Y Lee
For general radiologists, congenital brain malformations pose substantial challenges in terms of recognition, description, and classification. This review describes a practical approach to imaging and classifying the most common supratentorial brain malformations. It begins with a discussion of embryology and optimal imaging technique and then summarizes distinguishing imaging features for several major categories of cerebral malformation, including holoprosencephaly, gray matter heterotopia, lissencephaly/pachygyria, focal cortical dysplasia, polymicrogyria, and cobblestone malformation...
July 2017: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/28598277/surgical-strategy-to-avoid-ischemic-complications-of-the-pyramidal-tract-in-resective-epilepsy-surgery-of-the-insula-technical-case-report
#6
Naoki Ikegaya, Akio Takahashi, Takanobu Kaido, Yuu Kaneko, Masaki Iwasaki, Nobutaka Kawahara, Taisuke Otsuki
Surgical treatment of the insula is notorious for its high probability of motor complications, particularly when resecting the superoposterior part. Ischemic damage to the pyramidal tract in the corona radiata has been regarded as the cause of these complications, resulting from occlusion of the perforating arteries to the pyramidal tract through the insular cortex. The authors describe a strategy in which a small piece of gray matter is spared at the bottom of the periinsular sulcus, where the perforating arteries pass en route to the pyramidal tract, in order to avoid these complications...
June 9, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28588433/intragenic-cntnap2-deletions-a-bridge-too-far
#7
REVIEW
Martin Poot
Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. A variety of molecular mechanisms, such as loss of transcription factor binding sites and perturbation of penetrance and expressivity, have been proposed to account for the phenotypic variability resulting from CNTNAP2 mutations...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28580818/xanthomatous-posttraumatic-fibro-osseous-lesion-of-the-rib-a-rare-and-underrecognized-entity-case-report-and-literature-review
#8
Hussein Nassereddine, Frédérique Larousserie, Raphaël Campagna, Yves Castier, Anne Couvelard, Laurence Choudat, Aurélie Sannier
Posttraumatic fibro-osseous lesion (PTFOL) is a rare lesion that typically affects the ribs and is probably a posttraumatic reactive process. Because PTFOL is often misdiagnosed as fibrous dysplasia, osteoid osteoma, benign fibrous histiocytoma or rib metastases, chest wall resection, leading to a significant morbidity, is the main treatment modality. We report the case of a 30-year-old male patient with no history of previous trauma presenting with chest pain. Computed tomography scan showed an eighth left rib well-defined ovoid and hypodense lesion with circumferential sclerotic margin and no cortical breakthrough...
June 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28577347/neuroradiographic-findings-in-22q11-2-deletion-syndrome
#9
Lauren A Bohm, Tom C Zhou, Tyler J Mingo, Sarah L Dugan, Richard J Patterson, James D Sidman, Brianne B Roby
22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with enormous phenotypic heterogeneity. Despite the established prevalence of developmental and neuropsychiatric issues in this syndrome, its neuroanatomical correlates are not as well understood. A retrospective chart review was performed on 111 patients diagnosed with 22q11.2DS. Of the 111 patients, 24 with genetically confirmed 22q11.2 deletion and brain MRI or MRA were included in this study. The most common indications for imaging were unexplained developmental delay (6/24), seizures of unknown etiology (5/24), and unilateral weakness (3/24)...
June 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28565831/clinical-characteristics-and-epilepsy-outcomes-following-surgery-caused-by-focal-cortical-dysplasia-type-iia-in-110-adult-epileptic-patients
#10
Yuqiang Sun, Xiaofeng Wang, Ningwei Che, Huamin Qin, Shuping Liu, Xinling Wu, Minghai Wei, Huakun Cheng, Jian Yin
The aim of the present study was to investigate the effects of surgical intervention of focal cortical dysplasia (FCD) IIa on the outcome of epilepsy, and to evaluate the prognostic factors of seizure freedom. Patient data from epilepsy surgeries were retrospectively reviewed at the Second Affiliated Hospital of Dalian Medical University between 2007 and 2015. A total of 110 patients with a definite pathological diagnosis of FCD IIa were included. Moreover, the clinical characteristics, seizure outcome and quality of life in adults with FCD IIa were evaluated...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28557904/characteristics-of-eeg-seizure-onset-patterns-recorded-from-subdural-electrodes-over-mri-visible-frontal-focal-cortical-dysplasia-type-iib-lesions
#11
Daisuke Hirozawa, Kiyohito Terada, Kazumi Matsuda, Keiko Usui, Naotaka Usui, Takayasu Tottori, Akihiko Kondo, Yasukiyo Araki, Yoshio Omote, Yumi Kashida, Hideki Mochizuki, Yushi Inoue
PURPOSE: Focal cortical dysplasia (FCD) is intrinsically epileptogenic, and an MRI-visible lesion typically constitutes the core part of the epileptogenic zone. We aimed to identify ictal EEG patterns that represent the epileptogenic zone by using subdural electrodes placed over the MRI-visible FCD lesion. METHODS: We selected seven patients with frontal lobe epilepsy caused by pathologically proven FCD type IIb who underwent preoperative intracranial EEG evaluation with subdural electrodes followed by resection surgery with seizure-free outcome...
May 25, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28548216/pathology-of-oligodendroglia-an-overview
#12
Takashi Komori
Oligodendroglia are cells responsible for creating myelin sheaths for axons in the CNS. However, pathologies of oligodendroglia other than demyelination are not well understood due to the lack of adequate methods of characterizing pathological conditions affecting oligodendroglia in human tissue. This review discusses three major topics with the aim of clarifying some of the controversies in the study of oligodendroglia. The oligodendroglioma, a relatively indolent form of diffuse gliomas thought to originate in oligodendrocytes, has never demonstrated myelin formation on electron microscopy nor shown a constant expression of myelin-related proteins...
May 26, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28524219/-epileptic-encephalopathies
#13
J Ramos-Lizana
According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28510905/zoomed-mri-guided-by-combined-eeg-meg-source-analysis-a-multimodal-approach-for-optimizing-presurgical-epilepsy-work-up-and-its-application-in-a-multi-focal-epilepsy-patient-case-study
#14
Ü Aydin, S Rampp, A Wollbrink, H Kugel, J -H Cho, T R Knösche, C Grova, J Wellmer, C H Wolters
In recent years, the use of source analysis based on electroencephalography (EEG) and magnetoencephalography (MEG) has gained considerable attention in presurgical epilepsy diagnosis. However, in many cases the source analysis alone is not used to tailor surgery unless the findings are confirmed by lesions, such as, e.g., cortical malformations in MRI. For many patients, the histology of tissue resected from MRI negative epilepsy shows small lesions, which indicates the need for more sensitive MR sequences...
May 16, 2017: Brain Topography
https://www.readbyqxmd.com/read/28507642/diagnostic-imaging-of-pregnant-women-the-role-of-magnetic-resonance-imaging
#15
Monika Bekiesińska-Figatowska, Anna Romaniuk-Doroszewska, Sylwia Szkudlińska-Pawlak, Agnieszka Duczkowska, Jarosław Mądzik, Martyna Szopa-Krupińska, Tomasz M Maciejewski
BACKGROUND: Presentation of magnetic resonance imaging (MRI) findings in pregnant women in the Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland. MATERIAL/METHODS: Forty-three symptomatic pregnant women underwent MRI between 9 and 33 weeks of gestation (mean of 23 weeks). Moreover, we included 2 pregnant women who underwent fetal MRI and had incidental abnormalities. RESULTS: In 9 cases, we excluded the suspected brain abnormalities...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28491496/towards-in-vivo-focal-cortical-dysplasia-phenotyping-using-quantitative-mri
#16
REVIEW
Sophie Adler, Sara Lorio, Thomas S Jacques, Barbora Benova, Roxana Gunny, J Helen Cross, Torsten Baldeweg, David W Carmichael
Focal cortical dysplasias (FCDs) are a range of malformations of cortical development each with specific histopathological features. Conventional radiological assessment of standard structural MRI is useful for the localization of lesions but is unable to accurately predict the histopathological features. Quantitative MRI offers the possibility to probe tissue biophysical properties in vivo and may bridge the gap between radiological assessment and ex-vivo histology. This review will cover histological, genetic and radiological features of FCD following the ILAE classification and will explain how quantitative voxel- and surface-based techniques can characterise these features...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28491494/the-relationship-between-morphological-lesion-magnetic-source-imaging-and-intracranial-stereo-electroencephalography-in-focal-cortical-dysplasia
#17
Romain Bouet, François Mauguière, Sébastien Daligault, Jean Isnard, Marc Guenot, Olivier Bertrand, Julien Jung
Magnetoencephalography (MEG) is a useful non-invasive technique for presurgical evaluation of focal cortical dysplasia patients. We aimed at clarifying the precise spatial relationship between the spiking volume determined with MEG, the seizure onset zone and the lesional volume in patients with focal cortical dysplasia. We studied the spatial relationships between the MEG spiking volume determined with a recent analysis pipeline, the seizure-onset zone location determined with a quantitative index calculated from intracranial EEG signals ('Epileptogenicity Index') and the lesional volume delineated on brain MRI in 11 patients with Focal Cortical Dysplasia explored with Stereo-electroencephalography (SEEG)...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28491196/cerebral-palsy-and-seizures-in-a-child-with-tubulinopathy-pattern-dysgenesis-and-focal-cortical-dysplasia
#18
Kevin M Sweet, Dennis W W Shaw, Teresa Chapman
A 7-year-old boy with a history of spasticity, global developmental delay, and seizures was given the general diagnosis of cerebral palsy at an early age. Chromosomal array analysis performed at an outside center was normal. The patient's family sought neurodevelopmental pediatric care at a new institution following a move out of state. Electroencephalography confirmed abnormal epileptogenic activity. Brain magnetic resonance imaging showed findings consistent with a tubulin gene defect (tubulinopathy) and of focal cortical dysplasia, as well as evidence of a remote occipital lobe injury...
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28490224/prevalence-of-abnormal-magnetic-resonance-imaging-findings-in-children-with-persistent-symptoms-after-pediatric-sports-related-concussion
#19
Robert H Bonow, Seth D Friedman, Francisco A Perez, Richard G Ellenbogen, Samuel R Browd, Christine L MacDonald, Monica S Vavilala, Frederick P Rivara
A subset of patients experience persistent symptoms after pediatric concussion, and magnetic resonance imaging (MRI) is commonly used to evaluate for pathology. The utility of this practice is unclear. We conducted a retrospective cohort study to describe the MRI findings in children with concussion. A registry of all patients seen at our institution from January 2010 through March 2016 with pediatric sports-related concussion was cross-referenced with a database of radiographic studies. Radiology reports were reviewed for abnormal findings...
May 10, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28482731/clinical-and-radiologic-spectrum-of-septo-optic-dysplasia-review-of-17-cases
#20
Callie Alt, Michael I Shevell, Chantal Poulin, Bernard Rosenblatt, Christine Saint-Martin, Myriam Srour
We retrospectively reviewed the clinical and radiologic characteristics of 17 individuals with septo-optic dysplasia (SOD) and attempted to identify correlations between imaging findings, clinical features, and neurodevelopmental outcome. Surprisingly, only 1 (6%) individual was classified as classic SOD (with septum pellucidum/corpus callosum dysgenesis), 3 (18%) as SOD-like (with normal septum pellucidum/corpus callosum) and the majority, 13 (76%), as SOD-plus (with cortical brain malformation). Cortical abnormalities included schizencephaly, polymicrogyria, and gray matter heterotopias...
January 1, 2017: Journal of Child Neurology
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