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Corpus callosum & encephalopathy

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https://www.readbyqxmd.com/read/29126888/single-severe-traumatic-brain-injury-produces-progressive-pathology-with-ongoing-contralateral-white-matter-damage-one-year-after-injury
#1
Francesca Pischiutta, Edoardo Micotti, Jennifer R Hay, Ines Marongiu, Eliana Sammali, Daniele Tolomeo, Gloria Vegliante, Nino Stocchetti, Gianluigi Forloni, Maria-Grazia De Simoni, William Stewart, Elisa R Zanier
There is increasing recognition that traumatic brain injury (TBI) may initiate long-term neurodegenerative processes, particularly chronic traumatic encephalopathy. However, insight into the mechanisms transforming an initial biomechanical injury into a neurodegenerative process remain elusive, partly as a consequence of the paucity of informative pre-clinical models. This study shows the functional, whole brain imaging and neuropathological consequences at up to one year survival from single severe TBI by controlled cortical impact in mice...
November 7, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/29069042/the-radiological-findings-of-hypoglycemic-encephalopathy-a-case-report-with-high-b-value-dwi-analysis
#2
Shan Ren, Zhigang Chen, Ming Liu, Zhiqun Wang
RATIONALE: Hypoglycemic encephalopathy is a metabolic encephalopathy. Clinical risk is mixed with acute cerebrovascular disease, so it is critical to identify and make the correct diagnosis of the disease as early as possible. PATIENT CONCERNS: Here, we report a case of a 51-year-old male patient with hypoglycemic encephalopathy, who presented confusion and unconsciousness for 1 day. DIAGNOSES: In addition to blood-related indicators and medical histories, magnetic resonance imaging (MRI), especially diffusion-weighted imaging (DWI), can be valuable to the diagnosis of hypoglycemic encephalopathy, which showed diffuse high-signal intensity in the cerebral cortex, and also the hippocampus, head of the caudate nucleus, the lentiform nucleus, and corpus callosum...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28967461/clinical-manifestations-associated-with-the-n-terminal-acetyltransferase-naa10-gene-mutation-in-a-girl-ogden-syndrome
#3
Mandeep Sidhu, Lauren Brady, Mark Tarnopolsky, Gabriel M Ronen
BACKGROUND: Ogden syndrome is a rare X-linked disorder caused by pathogenic variants in the NAA10 gene. This syndrome, reported in just over 20 children, has been associated with dysmorphic features, failure to thrive, developmental impairments, hypotonia, and cardiac arrhythmias. PATIENT DESCRIPTION: We describe a 14-year-old girl who presented in infancy with hypotonia, global developmental delay, and dysmorphic features. She later developed autism spectrum disorder, epileptic encephalopathy, extrapyramidal signs, early morning lethargy with hypersomnolence, and hypertension with left ventricular hypertrophy...
July 19, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28927557/cacna1a-related-early-onset-encephalopathy-with-myoclonic-epilepsy-a-case-report
#4
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Hiroyuki Yamada, Ayako Itakura, Toshinori Minato, Tetsuhiro Fukuyama, Yoshihiro Maegaki, Shinichi Hirose
We report a one-year-old boy with early-onset myoclonic epilepsy, developmental arrest, and hyperekplexia during early infancy. He presented with refractory myoclonic/tonic seizures since birth. Electroencephalography revealed multifocal spikes, and rhythmic activities that occurred simultaneous with aggravation of myoclonus accompanied by tonic upper limb elevation. Brain magnetic resonance imaging revealed progressive cerebral atrophy with periventricular signal change and thin corpus callosum at one year of age...
September 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28900819/a-homozygous-pigo-mutation-associated-with-severe-infantile-epileptic-encephalopathy-and-corpus-callosum-hypoplasia-but-normal-alkaline-phosphatase-levels
#5
Yoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, Yonatan Sapir, Luci Zalman, Ilana Chervinsky, Markus Schuelke, Rachel Straussberg, Ronen Spiegel
We describe two sisters from a consanguineous Arab family with global developmental delay, dystrophy, axial hypotonia, epileptic encephalopathy dominated by intractable complex partial seizures that were resistant to various anti-epileptic treatments. Dysmorphic features comprised low set ears, hypertelorism, upslanting palpebral fissures, a broad nasal bridge, and blue sclera with elongated eyelashes. Brain MRI in both children showed a corpus callosum hypoplasia that was evident already in utero and evolving cortical atrophy...
December 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28893434/biallelic-mutations-in-szt2-cause-a-discernible-clinical-entity-with-epilepsy-developmental-delay-macrocephaly-and-a-dysmorphic-corpus-callosum
#6
Yuji Nakamura, Yasuko Togawa, Yusuke Okuno, Hideki Muramatsu, Kazuhiko Nakabayashi, Yoko Kuroki, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Takao Togawa, Ayako Hattori, Seiji Kojima, Shinji Saitoh
Mutations in SZT2 were first reported in 2013 as a cause of early-onset epileptic encephalopathy. Because only five reports have been published to date, the clinical features associated with SZT2 remain unclear. We herein report an additional patient with biallelic mutations in SZT2. The proband, a four-year-old girl, showed developmental delay and seizures from two years of age. Her seizures were not intractable and readily controlled by valproate. She showed mildly dysmorphic facies with macrocephaly, high forehead, and hypertelorism, and also had pectus carinatum...
September 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#7
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, Ilse Feenstra, Aad Verrips
A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasting clinical effect, but showed a treatment response to levetiracetam...
September 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28885997/susac-syndrome-the-first-case-report-in-peru
#8
Carolina Rivadeneira-Sotelo, María Meza Vega, Darwin Segura-Chávez, Sheila Castro-Suarez
Susac Syndrome is a rare entity, characterized by a triad of subacute encephalopathy, retinal artery occlusion and sensorineural hearing loss. It is more common in women and the age of onset fluctuates between 9-58 years of age. The pathogenesis is presented as microangiopathic changes at the cerebral, retinal and cochlear levels associated with an autoimmune mechanism. We present the case of a 31-year-old woman who started with a diffuse headache, puerile behavior, bradylalia and somnolence. As the disease progressed, she had auditory deficit and arterial obstruction of the right temporal retinal branch in retinal fluorescein angiography...
August 30, 2017: Medwave
https://www.readbyqxmd.com/read/28816832/reversible-splenial-lesion-syndrome-after-intravenous-immunoglobulin-treatment-for-guillain-barre-syndrome
#9
Elif Uygur Kucukseymen, Burcu Yuksel, Fatma Genc, Eylem Ozaydin Goksu, Sevim Yildiz, Yasemin Bicer Gomceli
Reversible corpus callosum splenial (CCS) lesions have been described in patients with varied etiologies. The most common causes of previously reported reversible focal lesions of the CCS are viral encephalitis, antiepileptic drug toxicity/withdrawal, and metabolic disorders. Intravenous immunoglobulin (IVIG) therapy is used for different immune-mediated diseases. It is generally safe, and serious adverse reactions are uncommon. We presented a rare case of disturbed consciousness with reversible CCS lesions after IVIG therapy for Guillain-Barre syndrome in an adult woman...
September 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/28815871/clinical-and-molecular-characterization-of-de-novo-loss-of-function-variants-in-hnrnpu
#10
Magalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Pilar Magoulas, Shujuan Pan, Joke Beuten, Weimin He, Jonathan A Bernstein, Christian P Schaaf, Fernando Scaglia, Christine M Eng, Yaping Yang
DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report on the clinical presentation of four patients with de novo heterozygous HNRNPU loss-of-function mutations detected by clinical whole exome sequencing: c...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28813200/brain-microstructural-abnormalities-in-patients-with-cirrhosis-without-overt-hepatic-encephalopathy-a-voxel-based-diffusion-kurtosis-imaging-study
#11
Hua-Jun Chen, Peng-Fei Liu, Qiu-Feng Chen, Hai-Bin Shi
OBJECTIVE: This study aimed to investigate whole-brain microstructural abnormalities and their correlation with cognitive impairment in patients with cirrhosis using diffusion kurtosis imaging (DKI). SUBJECTS AND METHODS: Eighteen patients with cirrhosis and 17 healthy control subjects underwent DKI. Cognition was measured using psychometric hepatic encephalopathy (HE) scores. Whole-brain voxel-based analyses were performed to investigate between-group differences in DKI-derived parameters, including mean kurtosis, axial kurtosis, and radial kurtosis...
November 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28804979/kleine-levin-syndrome-elicited-by-encephalopathy-with-reversible-splenial-lesion
#12
Masaru Takayanagi, Shinichi Okabe, Katsuya Yamamoto, Juri Komatsu, Rikio Suzuki, Taro Kitamura, Toshihiro Ohura
Kleine-Levin syndrome is a rare sleep disorder of unknown etiology characterized by repetitive episodes of hypersomnia between asymptomatic periods. We report the case of a 13-year-old girl who presented with drowsiness triggered by influenza A as the first episode. Magnetic resonance imaging (MRI) on day 6 showed transient reduction of diffusion in the corpus callosum splenium. The patient was diagnosed with encephalopathy with a reversible splenial lesion. The symptoms resolved after 10 days, but additional episodes of hypersomnia lasting 5-10 days occurred 1, 5, 6, 11, 13, and 25 months after the first episode...
August 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28747606/effective-therapy-with-infliximab-for-clinically-mild-encephalitis-encephalopathy-with-a-reversible-splenial-lesion-in-an-infant-with-kawasaki-disease
#13
Yoshie Kurokawa, Hiroshi Masuda, Tohru Kobayashi, Hiroshi Ono, Hitoshi Kato, Ken-Ichi Imadome, Jun Abe, Yuichi Abe, Shuichi Ito, Akira Ishiguro
Kawasaki disease (KD) is a systemic vasculitis in infants. In KD, encephalopathy is rarely (0.1%) associated, however, clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) has previously been reported in some pediatric patients. Here, we report on a 2-year-old girl who had KD complicated with MERS. The patient experienced generalized clonic convulsion and prolonged consciousness disturbance with fever for 2 days. Her head MRI showed a high signal intensity lesion in the splenium of the corpus callosum in diffusion-weighted images, and low apparent diffusion coefficient (ADC) values on day 3...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28704294/early-detection-of-neonatal-hypoxic-ischemic-white-matter-injury-an-mr-diffusion-tensor-imaging-study
#14
Youngseob Seo, Geun-Tae Kim, Jin Wook Choi
The purpose of this study was to compare diffusion tensor metrics in normal age-matched neonates with survivors of hypoxic-ischemic encephalopathy (HIE) and extracorporeal membrane oxygenation (ECMO). Thirty-five normal, 27 HIE, and 13 ECMO infants underwent MRI at 3 T. Neurodevelopmental assessments were performed. Fractional anisotropy (FA), axial diffusivity (AD), and radial diffusivity (RD) of the inferior fronto-occipital fasciculus, inferior longitudinal fasciculus, anterior commissure, genu corpus callosum and splenium of the corpus callosum, anterior and posterior limb of the internal capsule, superior longitudinal fasciculus, and the centrum semiovale were analyzed with tract-based spatial statistics modified for use in neonates...
September 6, 2017: Neuroreport
https://www.readbyqxmd.com/read/28641772/susac-syndrome-a-differential-diagnosis-of-white-matter-lesions
#15
Mariano Marrodan, Jorge Correale, Lucas Alessandro, Mariela Amaya, Maria Eugenia Fracaro, Alejandro Alfredo Köhler, Marcela Fiol
INTRODUCTION: Susac Syndrome is an autoimmune endotheliopathy affecting capillaries and precapillary arterioles of the brain, inner ear and retina. The classic symptom triad includes visual disturbances, hypoacusia, and encephalopathy, but is rarely fully manifest at onset. The syndrome typically follows an active fluctuating monophasic course. Typical imaging findings on brain magnetic resonance show central fiber microischemias/microinfarctions of the corpus callosum known as "snow balls", as well as lineal infarcts and upper callosal fiber involvement...
July 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28637381/role-of-caspase-3-mediated-apoptosis-in-chronic-caspase-3-cleaved-tau-accumulation-and-blood-brain-barrier-damage-in-the-corpus-callosum-after-traumatic-brain-injury-in-rats
#16
Olena Y Glushakova, Andriy O Glushakov, Cesar V Borlongan, Alex B Valadka, Ronald L Hayes, Alexander V Glushakov
Traumatic brain injury (TBI) may be a significant risk factor for development of neurodegenerative disorders such as chronic traumatic encephalopathy (CTE), post-traumatic epilepsy (PTE), and Alzheimer's (AD) and Parkinson's (PD) diseases. Chronic TBI is associated with several pathological features that are also characteristic of neurodegenerative diseases, including tau pathologies, caspase-3-mediated apoptosis, neuroinflammation, and microvascular alterations. The goal of this study was to evaluate changes following TBI in cleaved-caspase-3 and caspase-3-cleaved tau truncated at Asp421, and their relationships to cellular markers potentially associated with inflammation and blood-brain (BBB) barrier damage...
July 21, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28585150/mild-encephalopathy-encephalitis-with-a-reversible-splenial-lesion-mers-a-report-of-five-neonatal-cases
#17
Dan Sun, Wen-Hong Chen, Suraj Baralc, Juan Wang, Zhi-Sheng Liu, Yuan-Peng Xia, Lei Chen
Mild encephalopathy/encephalitis with a reversible splenial (MERS) lesion is a clinic-radiological entity. The clinical features of MERS in neonates are still not systemically reported. This paper presents five cases of MERS, and the up-to-date reviews of previously reported cases were collected and analyzed in the literature. Here we describe five cases clinically diagnosed with MERS. All of them were neonates and the average age was about 4 days. They were admitted for the common neurological symptoms such as hyperspasmia, poor reactivity and delirium...
June 2017: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/28556953/novel-biallelic-szt2-mutations-in-three-cases-of-early-onset-epileptic-encephalopathy
#18
Naomi Tshuchida, Mitsuko Nakashima, Akihiko Miyauchi, Shinsaku Yoshitomi, Tomokazu Kimizu, Vigneswari Ganesan, Keng Wee Teik, Ch'ng Gaik-Siew, Mitsuhiro Kato, Takeshi Mizuguchi, Atsushi Takata, Satoko Miyatake, Noriko Miyake, Hitoshi Osaka, Takanori Yamagata, Nakajima Hideaki, Hirotomo Saitsu, Naomichi Matsumoto
The seizure threshold 2 (SZT2) gene encodes a large, highly-conserved protein that is associated with epileptogenesis. In mice, Szt2 is abundantly expressed in the central nervous system. Recently, biallelic SZT2 mutations were found in seven patients (from five families) presenting with epileptic encephalopathy with dysmorphic features and/or non-syndromic intellectual disabilities. In this study, we identified by whole-exome sequencing compound heterozygous SZT2 mutations in three patients with early-onset epileptic encephalopathies...
May 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28545419/mild-encephalitis-encephalopathy-with-reversible-splenial-lesion-mers-in-adults-a-case-report-and-literature-review
#19
Junliang Yuan, Shuna Yang, Shuangkun Wang, Wei Qin, Lei Yang, Wenli Hu
BACKGROUND: Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) is a rare clinico-radiological entity characterized by the magnetic resonance imaging (MRI) finding of a reversible lesion in the corpus callosum, sometimes involved the symmetrical white matters. Many cases of child-onset MERS with various causes have been reported. However, adult-onset MERS is relatively rare. The clinical characteristics and pathophysiologiccal mechanisms of adult-onset MERS are not well understood...
May 25, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28520686/clinical-correlates-to-assist-with-chronic-traumatic-encephalopathy-diagnosis-insights-from-a-novel-rodent-repeat-concussion-model
#20
Gretchen M Thomsen, Ara Ko, Megan Y Harada, Annie Ma, Livia Wyss, Patricia Haro, Jean-Philippe Vit, Pablo Avalos, Navpreet K Dhillon, Noell Cho, Oksana Shelest, Eric J Ley
INTRODUCTION: Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease linked to repetitive head injuries. Chronic traumatic encephalopathy symptoms include changes in mood, behavior, cognition, and motor function; however, CTE is currently diagnosed only postmortem. Using a rat model of recurrent traumatic brain injury (TBI), we demonstrate rodent deficits that predict the severity of CTE-like brain pathology. METHODS: Bilateral, closed-skull, mild TBI was administered once per week to 35 wild-type rats; eight rats received two injuries (2×TBI), 27 rats received five injuries (5×TBI), and 13 rats were sham controls...
June 2017: Journal of Trauma and Acute Care Surgery
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