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Neuroradiology- neuroimaging-mri-

Debopam Samanta, Raghu Ramakrishnaiah
Aicardi-Goutières syndrome (AGS) is a rare, genetic inflammatory disease due to mutations in any of the seven genes discovered to date ( TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR , and IFIH1 ). Clinical onset is seen most commonly in utero or in infancy; irritability, feeding difficulties, jitteriness, microcephaly, abnormal movements, seizures, bone marrow suppression, and liver dysfunction are seen either during the neonatal age group or within the first few months of life with abrupt onset of neurologic regression and slowing of head growth...
January 2019: Annals of Indian Academy of Neurology
George A Taylor, Jennifer A Vaughan, Patrick Niyongabo, Toussaint Dusabe, Sabine Nyiraneza
Rwanda is a country of 12 million people with 41% of its population under the age of 14 years. Despite major improvements in health care since the 1994 genocide, pediatric neuroimaging in Rwanda remains challenging. Prenatal and advanced imaging techniques, such as magnetic resonance imaging (MRI), are not widespread. As a result, many children with neurological diseases present unexpectedly as newborns or are in advanced stages of disease at diagnosis. The goal of this essay is to describe some unique features of the practice of pediatric neuroradiology in Rwanda in 2018...
December 13, 2018: Pediatric Radiology
Yukako Yae, Go Kawano, Takaoki Yokochi, Toru Imagi, Yukihiro Akita, Keizo Ohbu, Toyojiro Matsuishi
Acute disseminated encephalomyelitis (ADEM) is a typically monophasic inflammatory demyelinating disease of the central nervous system with a favorable outcome. However, 2% of ADEM involves acute hemorrhagic leukoencephalitis (AHLE), which is a fulminant and hyperacute variant of ADEM with a poor outcome and high mortality. There are limited case reports of fulminant ADEM including AHLE in children. Herein, we report two pediatric cases of fulminant ADEM. Both cases had a rapid deterioration of consciousness, repetitive seizures, and brain edema on neuroimaging, in addition to atypical neuroradiological findings on magnetic resonance imaging (MRI), a reversible splenial lesion in case 1, and bilateral frontal and occipital cortical lesions in case 2...
December 3, 2018: Brain & Development
Ahmed BoAli, Kalthoum Tlili-Graiess, Amal AlHashem, Saad AlShahwan, Giulio Zuccoli, Brahim Tabarki
BACKGROUND: Mutations in AIMP1, which plays an important role in the development and maintenance of axon-cytoskeleton integrity and regulating neurofilaments, cause neurodegeneration of variable severity and white matter abnormalities. METHODS: From the patient records we analyzed the clinical evaluation, molecular genetics, neurodiagnostic, and neuroradiological investigations. RESULTS: We describe six members of a large consanguineous family with a phenotype of severe neurodegeneration in the form of developmental delays, progressive microcephaly, epilepsy, and failure to thrive...
September 25, 2018: Pediatric Neurology
Michael S Salman, Shakhawat Hossain, Lina Alqublan, Martin Bunge, Katya Rozovsky
Background: Many children with neurofibromatosis type 1 (NF1) have focal abnormal signal intensities (FASI) on brain MRI, whose full clinical impact and natural history have not been studied systematically. Our aims are to describe the clinical and neuroradiological features in children with NF1 and cerebellar FASI, and report on the natural history of FASI that display atypical features such as enhancement and mass effect. Method: A retrospective review of the hospital charts and brain MRIs was performed on children from Manitoba diagnosed between 1999 and 2008 with NF1, who also had cerebellar FASI on MRI...
2018: Cerebellum & Ataxias
Anna Bersano, Gloria Bedini, Hugh Stephen Markus, Paolo Vitali, Enrico Colli-Tibaldi, Franco Taroni, Cinzia Gellera, Silvia Baratta, Lorena Mosca, Paola Carrera, Maurizio Ferrari, Cristina Cereda, Gaetano Grieco, Silvia Lanfranconi, Franca Mazucchelli, Davide Zarcone, Maria Luisa De Lodovici, Giorgio Bono, Giorgio Battista Boncoraglio, Eugenio Agostino Parati, Maria Vittoria Calloni, Patrizia Perrone, Bianca Maria Bordo, Cristina Motto, Elio Agostoni, Alessandro Pezzini, Alessandro Padovani, Giuseppe Micieli, Anna Cavallini, Graziella Molini, Francesco Sasanelli, Maria Sessa, Giancarlo Comi, Nicoletta Checcarelli, Massimo Carmerlingo, Manuel Corato, Simona Marcheselli, Laura Fusi, Giampiero Grampa, Davide Uccellini, Simone Beretta, Carlo Ferrarese, Barbara Incorvaia, Carlo Sebastiano Tadeo, Laura Adobbati, Vincenzo Silani, Giuseppe Faragò, Nadia Trobia, Caspar Grond-Ginsbach, Livia Candelise
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. METHODS: Patients with lacunar stroke or TIA were included in the present study...
December 2018: Journal of Neurology
Alessandro Scorpecci, Michela Massoud, Sara Giannantonio, Paola Zangari, Daniela Lucidi, Francesco Martines, Silvia Foligno, Giovina Di Felice, Antonio Minozzi, Matteo Luciani, Pasquale Marsella
PURPOSE: To describe the prevalent clinical, laboratory, and radiological features of otogenic lateral sinus thrombosis (OLST) in children; to identify clinical predictors of outcome; to propose a management algorithm derived from experience. METHODS: A retrospective review was conducted of the clinical records of patients with OLST, treated in a single tertiary care referral center for pediatric disease from 2006 to 2017. The inclusion criteria were pediatric age (0-16 years) and OLST diagnosis confirmed by a pre- and post-contrast CT or venography-MRI scan...
August 2018: European Archives of Oto-rhino-laryngology
Marta Drake-Pérez, Jose Boto, Aikaterini Fitsiori, Karl Lovblad, Maria Isabel Vargas
Diffusion-weighted imaging (DWI) has revolutionised stroke imaging since its introduction in the mid-1980s, and it has also become a pillar of current neuroimaging. Diffusion abnormalities represent alterations in the random movement of water molecules in tissues, revealing their microarchitecture, and occur in many neurological conditions. DWI provides useful information, increasing the sensitivity of MRI as a diagnostic tool, narrowing the differential diagnosis, providing prognostic information, aiding in treatment planning and evaluating response to treatment...
August 2018: Insights Into Imaging
Bing Wang, Bhanu Gogia, Gregory N Fuller, Leena M Ketonen
BACKGROUND AND PURPOSE: Embryonal tumor with multilayered rosettes (ETMR), C19MC-altered, is a recently described, rare central nervous system tumor. To our knowledge, the imaging findings of this tumor have not been systematically evaluated in the neuroradiology literature. We present here the clinical, radiological, and pathological correlation of a case series of this very rare tumor, including the full range of anatomic compartment presentations (supratentorial, infratentorial, and spinal)...
September 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
Yaoyao Shen, Wen Jian, Juan Li, Tingmin Dai, Bing Bao, Hongbing Nie
OBJECTIVE: Wallerian degeneration (WD) of middle cerebellar peduncles (MCPs) secondary to pontine infarction is rarely reported in the literature. Our aim in this study is to characterize its clinical and neuroradiological features. METHODS: A retrospective review of 7 patients from a single institution was conducted. Only patients with pontine infarction and subsequent degeneration of the MCPs were included in the analysis. The features of clinical presentation and neuroimaging finding were summarized by our experienced neurologists...
May 15, 2018: Journal of the Neurological Sciences
Zihao Wang, Lu Gao, Xiaoyu Zhou, Xiaopeng Guo, Qiang Wang, Wei Lian, Renzhi Wang, Bing Xing
OBJECTIVE: To investigate pituitary abscess (PA) magnetic resonance imaging (MRI) features to improve the neuroradiologic and diagnostic knowledge of this rare disease and guide follow-up treatments. METHODS: Clinical data were collected for 51 patients with PA, and MRI data were quantitatively reviewed in a retrospective analysis. Clinical factors were analyzed to investigate their relevance. RESULTS: PA neuroimaging showed special radiologic features, including hypointensity or isointensity on T1-weighted imaging (30 patients, 58...
June 2018: World Neurosurgery
Natalie E Parks, Gaurav Goyal, Ronald S Go, Jay Mandrekar, W Oliver Tobin
Background: We describe the neuroradiologic features of a cohort of patients with Erdheim-Chester disease. Methods: We assessed patients at Mayo Clinic Rochester between January 1, 1990, and July 31, 2016, with pathologically confirmed Erdheim-Chester disease (n = 53). Results: Neuroimaging, including head CT (n = 17), brain MRI (n = 39), orbital MRI (n = 15), and spine MRI (n = 16), was available for 42 participants. Median age at diagnosis was 55 years (interquartile range 46-66) with higher male prevalence (33:20)...
February 2018: Neurology. Clinical Practice
Maria Isabel Vargas, Pascal Martelli, Lijing Xin, Ozlem Ipek, Frederic Grouiller, Francesca Pittau, Robert Trampel, Rolf Gruetter, Serge Vulliemoz, Francois Lazeyras
The aim of this article is to illustrate the principal challenges, from the medical and technical point of view, associated with the use of ultrahigh field (UHF) scanners in the clinical setting and to present available solutions to circumvent these limitations. We would like to show the differences between UHF scanners and those used routinely in clinical practice, the principal advantages, and disadvantages, the different UHFs that are ready be applied to routine clinical practice such as susceptibility-weighted imaging, fluid-attenuated inversion recovery, 3-dimensional time of flight, magnetization-prepared rapid acquisition gradient echo, magnetization-prepared 2 rapid acquisition gradient echo, and diffusion-weighted imaging, the technical principles of these sequences, and the particularities of advanced techniques such as diffusion tensor imaging, spectroscopy, and functional imaging at 7TMR...
January 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
Michio Nakamura, Tadashi Miyazaki, Natsuki Shinozaki, Masaki Izumi, Takashi Itabashi
OBJECTIVE: Craniocervical junction arteriovenous fistulas(CCJ-AVFs)are extremely rare lesions that may result in both subarachnoid hemorrhage(SAH)and myelopathy. Diagnosis of CCJ-AVF is difficult and may be delayed due to variable clinical features and a spectrum of neuroradiological findings. To elucidate the clinical characteristics of CCJ-AVF, we analyzed the clinical symptoms, neuroimaging findings, and the results of surgical treatment in five patients. RESULTS: Among the five patients, four were diagnosed with dural AVFs, and the remaining patient was diagnosed with radicular AVF...
October 2017: No Shinkei Geka. Neurological Surgery
Sorina Gorcenco, Jonna Komulainen-Ebrahim, Karin Nordborg, Maria Suo-Palosaari, Sten Andréasson, Johanna Krüger, Christer Nilsson, Ulrika Kjellström, Elisa Rahikkala, Dominik Turkiewicz, Mikael Karlberg, Lars Nilsson, Jörg Cammenga, Ulf Tedgård, Josef Davidsson, Johanna Uusimaa, Andreas Puschmann
OBJECTIVE: We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and SAMD9L mutations. METHODS: Members of these families with germline SAMD9L c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews and neurologic and ophthalmologic examinations. Neuroimaging was performed, and medical records were reviewed...
October 2017: Neurology. Genetics
Godwin Ogbole, Joseph Odo, Richard Efidi, Richard Olatunji, Ayotunde Ogunseyinde
BACKGROUND: Low-field (LF) magnetic resonance imaging (MRI) is a technology that is widely used in resource-limited settings for clinical imaging. The images produced, even though of low resolution with noise and artefacts, provide valuable information and guidance for patient assessment and treatment. This study shows a spectrum of MRI artefacts that affect image quality during routine clinical neuroradiology practice using LF MRI in a Nigerian hospital and suggests ways to avoid them...
April 2017: Nigerian Postgraduate Medical Journal
Meredith Bowen, Jason Peragallo, Stephen F Kralik, Andrea Poretti, Thierry A G M Huisman, Bruno P Soares
The Publisher regrets that this article is an accidental duplication of an article that has already been published, The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at
June 3, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Meredith Bowen, Jason H Peragallo, Stephen F Kralik, Andrea Poretti, Thierry A G M Huisman, Bruno P Soares
BACKGROUND: Spasmus nutans (SN) is a rare pediatric ophthalmologic syndrome characterized by nystagmus, head bobbing, and abnormal head positioning. Historically, SN has been associated with underlying optic pathway gliomas (OPG); however, evidence of this association is based primarily on a small number of isolated case reports. Prior retrospective analyses have found the rate of OPG to be <2%, but these studies only intermittently used neuroimaging with computed tomography, which has limited sensitivity for detection of small lesions in the optic pathway...
April 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Surya N Gupta, Vikash S Gupta, Andrew C White
Intracranial incidental findings on magnetic resonance imaging (MRI) of the brain continue to generate interest in healthy control, research, and clinical subjects. However, in clinical practice, the discovery of incidental findings acts as a "distractor". This review is based on existing heterogeneous reports, their clinical implications, and how the results of incidental findings influence clinical management. This draws attention to the followings: (1) the prevalence of clinically significant incidental findings is low; (2) there is a lack of a systematic approach to classification; and discusses (3) how to deal with the detected incidental findings based a proposed common clinical profile...
August 8, 2016: World Journal of Clinical Pediatrics
Renata Oliveira, Ewen W Sommerville, Kyle Thompson, Joana Nunes, Angela Pyle, Manuela Grazina, Patrick F Chinnery, Luísa Diogo, Paula Garcia, Robert W Taylor
Mitochondrial translation defects are important causes of early onset mitochondrial disease. Although the biochemical (combined respiratory chain deficiency) signature and neuroimaging are usually distinctive, they are not diagnostic as the genetic origin of mitochondrial translation defects is heterogeneous. We report a female child, born at term to non-consanguineous parents, who exhibited global hypotonia, failure to thrive, persistent and progressive hyperlactacidaemia with lactic acidosis, liver dysfunction and encephalopathy and died at the age of 5 months...
2017: JIMD Reports
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