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Corpus callosum & encephalopathy

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https://www.readbyqxmd.com/read/28393272/heterozygous-hnrnpu-variants-cause-early-onset-epilepsy-and-severe-intellectual-disability
#1
Nuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, Janine Altmüller, Filippo Beleggia, Nursel H Elcioglu, Catharine Freyer, Erica H Gerkes, Yasemin Kendir Demirkol, Kelly G Knupp, Alma Kuechler, Yun Li, Daniel H Lowenstein, Jacques L Michaud, Kristen Park, Alexander P A Stegmann, Hermine E Veenstra-Knol, Thomas Wieland, Bernd Wollnik, Hartmut Engels, Tim M Strom, Tjitske Kleefstra, Dagmar Wieczorek
Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several human diseases, such as neurodegenerative diseases. The RNA splicing process is facilitated by the spliceosome, a large RNA-protein complex consisting of small nuclear ribonucleoproteins (snRNPs), and many other proteins, such as heterogeneous nuclear ribonucleoproteins (hnRNPs). The HNRNPU gene (OMIM *602869) encodes the heterogeneous nuclear ribonucleoprotein U, which plays a crucial role in mammalian development. HNRNPU is expressed in the fetal brain and adult heart, kidney, liver, brain, and cerebellum...
April 9, 2017: Human Genetics
https://www.readbyqxmd.com/read/28357411/gnao1-encephalopathy-broadening-the-phenotype-and-evaluating-treatment-and-outcome
#2
Federica Rachele Danti, Serena Galosi, Marta Romani, Martino Montomoli, Keren J Carss, F Lucy Raymond, Elena Parrini, Claudia Bianchini, Tony McShane, Russell C Dale, Shekeeb S Mohammad, Ubaid Shah, Neil Mahant, Joanne Ng, Amy McTague, Rajib Samanta, Gayatri Vadlamani, Enza Maria Valente, Vincenzo Leuzzi, Manju A Kurian, Renzo Guerrini
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques. RESULTS: Patients first presented in early childhood (median age of presentation 10 months, range 0-48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior, and epileptic encephalopathy to a milder phenotype, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28338593/clinical-correlates-to-assist-with-cte-diagnosis-insights-from-a-novel-rodent-repeat-concussion-model
#3
Gretchen M Thomsen, Ara Ko, Megan Y Harada, Annie Ma, Livia Wyss, Patricia Haro, Jean-Philippe Vit, Pablo Avalos, Navpreet Dhillon, Noell Cho, Oksana Shelest, Eric J Ley
INTRODUCTION: Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease linked to repetitive head injuries. CTE symptoms include changes in mood, behavior, cognition and motor function, however CTE is only currently diagnosed post-mortem. 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 WT rats, 8 rats received 2 injuries ('2xTBI'), 27 rats received 5 injuries ('5xTBI') and 13 rats were sham controls...
March 23, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28302194/-clinical-and-molecular-genetic-study-of-nonketotic-hyperglycinemia-in-a-chinese-family
#4
Zhi-Jie Gao, Qian Jiang, Qian Chen, Ke-Ming Xu
Nonketotic hyperglycinemia (NKH) is a rare, inborn error of metabolism. In this case report, a Chinese male infant was diagnosed with NKH caused by GLDC gene mutation. The clinical characteristics and genetic diagnosis were reported. The infant presented with an onset of early metabolic encephalopathy and Ohtahara syndrome. Both blood and urinary levels of metabolites were in the normal range. Brain MRI images indicated a poor development of corpus callosum, and a burst suppression pattern was found in the EEG...
March 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28254201/unusual-association-of-scn2a-epileptic-encephalopathy-with-severe-cortical-dysplasia-detected-by-prenatal-mri
#5
Silvia Bernardo, Enrica Marchionni, Sabrina Prudente, Paola De Liso, Alberto Spalice, Antonella Giancotti, Lucia Manganaro, Antonio Pizzuti
We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia characterized by lack of differentiation between cortical and subcortical layers, pachygyria and corpus callosum dysgenesis...
February 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28183504/a-6-month-old-infant-with-different-capnography-values-in-polysomnography
#6
Lourdes M DelRosso, Pacifico Palacay, Ngoc P Ly
A 6-month-old infant with a past medical history of hypoxic ischemic encephalopathy was referred for evaluation of snoring. She was born at 41 weeks' gestational age to a 25-year-old gravida 1, para 1 mother via vacuum-assisted delivery due to cardiac decelerations. The infant's Apgar scores were 1, 4, and 6 with nuchal cord and meconium at delivery. She was started on positive-pressure ventilation but eventually required intubation at approximately 40 minutes of life. Brain MRI showed abnormal areas of restricted diffusion, involving the corpus callosum, bilateral posterior limb of the internal capsules, and possible scattered areas of frontal and occipital lobe cortices...
February 2017: Chest
https://www.readbyqxmd.com/read/28153057/unusual-presentation-of-a-severely-ill-patient-having-severe-fever-with-thrombocytopenia-syndrome-a-case-report
#7
Masahiko Kaneko, Masaki Maruta, Hisaharu Shikata, Kengo Asou, Hiroto Shinomiya, Tadaki Suzuki, Hideki Hasegawa, Masayuki Shimojima, Masayuki Saijo
BACKGROUND: Severe fever with thrombocytopenia syndrome is an emerging infectious disease caused by a novel phlebovirus belonging to the family Bunyaviridate. Emergence of encephalitis/encephalopathy during severe fever with thrombocytopenia syndrome progression has been identified as a major risk factor associated with a poor prognosis. Here we report the case of a severely ill patient with severe fever with thrombocytopenia syndrome virus-associated encephalitis/encephalopathy characterized by a lesion of the splenium, which resolved later...
February 3, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28104944/restricted-diffusion-in-the-corpus-callosum-a-neuroradiological-marker-in-hypoxic-ischemic-encephalopathy
#8
Alok Kale, Priscilla Joshi, A B Kelkar
BACKGROUND: Restricted diffusion within the splenium of the corpus callosum has been described by other authors in various conditions, however, restricted diffusion in the entire corpus callosum or isolated involvement of the splenium, genu, or body has been infrequently reported on magnetic resonance imaging (MRI) in neonatal hypoxic-ischemic encephalopathy. We report a series of cases showing different patterns of involvement. METHODS AND MATERIALS: Perinatal imaging with MRI including diffusion-weighted imaging was performed in 40 neonates with hypoxic-ischemic encephalopathy, including 11 premature neonates...
October 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/27974125/-clinical-features-of-mild-encephalitis-encephalopathy-with-a-reversible-splenial-lesion-in-children
#9
Yin Liu, Guang-Min Li, Shu-Hua Li, Xiao-Qing Wang, Su-Rong Li, Jing Zhang, Hong-Fang Wang, Bao-Dong Pang, Jia-Hua Wu
OBJECTIVE: To investigate the clinical features of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children. METHODS: The clinical data of 8 children with MERS were retrospectively analyzed. RESULTS: The mean age of onset was 5 years and 2 months (range 10 months to 12 years). The major clinical features included a history of prodromal infection, and among these children, 5 had pyrexia and 4 had vomiting. Of all the children, 6 were manifested as convulsion and 3 each were manifested as disturbance of consciousness and paroxysmal paropsia...
December 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27958279/brain-training-with-video-games-in-covert-hepatic-encephalopathy
#10
Jasmohan S Bajaj, Vishwadeep Ahluwalia, Leroy R Thacker, Andrew Fagan, Edith A Gavis, Michael Lennon, Douglas M Heuman, Michael Fuchs, James B Wade
Despite the associated adverse outcomes, pharmacologic intervention for covert hepatic encephalopathy (CHE) is not the standard of care. We hypothesized that a video game-based rehabilitation program would improve white matter integrity and brain connectivity in the visuospatial network on brain magnetic resonance imaging (MRI), resulting in improved cognitive function in CHE subjects on measures consistent with the cognitive skill set emphasized by the two video games (e.g., IQ Boost-visual working memory, and Aim and Fire Challenge-psychomotor speed), but also generalize to thinking skills beyond the focus of the cognitive training (Hopkins verbal learning test (HVLT)-verbal learning/memory) and improve their health-related quality of life (HRQOL)...
December 13, 2016: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27887978/mild-encephalitis-encephalopathy-with-reversible-splenial-lesion-mers-due-to-dengue-virus
#11
Choong Yi Fong, Mi Mi Ko Khine, Alan Basil Peter, Wei Kang Lim, Faizatul Izza Rozalli, Kartini Rahmat
A 14-year-old girl presented with encephalopathy, delirium and ophthalmoplegia following a 3day history of high-grade fever. Brain MRI on day 6 of illness showed diffusion restricted ovoid lesion in the splenium of corpus callosum. Dengue virus encephalitis was diagnosed with positive PCR for dengue virus type-2 in both serum and cerebrospinal fluid. She made a complete recovery from day 10 of illness. Repeat brain MRI on day 12 of illness showed resolution of the splenial lesion. Serial diffusion tensor imaging (DTI) showed normal fractional anisotropy values on resolution of splenial lesion indicating that MERS was likely due to transient interstitial oedema with preservation of white matter tracts...
February 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27881816/hypothermia-treated-neonates-with-hypoxic-ischemic-encephalopathy-optimal-timing-of-quantitative-adc-measurement-to-predict-disease-severity
#12
Yauk K Lee, Alex Penn, Mahesh Patel, Rajul Pandit, Dongli Song, Bo Yoon Ha
To determine the optimal time window for MR imaging with quantitative ADC measurement in neonatal HIE after hypothermia treatment, a retrospective review was performed on consecutive hypothermia-treated term neonates with HIE, with an initial and follow-up MR imaging within the first two weeks of life. Three neuroradiologists categorized each set of MR imaging as normal, mild, moderate or severe HIE based on a consensus review of the serial imaging. The lowest ADC values from the white matter, corpus callosum, and basal ganglia/thalamus were measured...
February 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/27863115/reversible-splenial-lesion-syndrome-with-a-hyperosmolar-hyperglycemic-state-and-neuroleptic-malignant-syndrome-caused-by-olanzapine
#13
Kenta Kaino, Ryo Kumagai, Shoko Furukawa, Momoko Isono, Aiko Muramatsu, Masanao Fujii, Yumiko Muta, Tomoyuki Asada, Kazuya Fujihara, Hiroaki Yagyu
A 27-year-old woman with panic disorder taking 20 mg olanzapine daily for 4 months was admitted to our hospital because of disturbed consciousness with fever, hyperglycemia, hyperosmolarity, and elevated creatine phosphokinase. She was diagnosed with a hyperosmolar hyperglycemic state (HHS) and neuroleptic malignant syndrome (NMS). Brain magnetic resonance imaging (MRI) showed transiently restricted diffusion in the splenium of the corpus callosum (SCC), with a high signal intensity on diffusion-weighted imaging...
November 18, 2016: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/27858890/mild-encephalopathy-with-a-reversible-splenial-lesion-mimicking-transient-ischemic-attack-a-case-report
#14
Kai Dong, Qian Zhang, Jianping Ding, Liankun Ren, Zhen Zhang, Longfei Wu, Wuwei Feng, Haiqing Song
BACKGROUND: Reversible splenial lesion syndrome (RESLES) is a newly recognized syndrome, and a reversible progress associated with transiently reduced diffusion lesion in the splenium of the corpus callosum (SCC) is the typical pathological finding. The routine clinical symptoms include mildly altered states of consciousness, delirium, and seizures. METHODS: We presented a 14-year-old patient with signs suggestive of transient ischemic attack (TIA), including triple episodic weakness on the right upper limb, slurred speech, and bucking, lasting several hours in each time 2 days ago...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27853083/reversible-cerebral-vasoconstriction-syndrome-with-transient-splenial-lesions-after-delivery
#15
Akiyuki Hiraga, Kyosuke Koide, Yuya Aotsuka, Satoshi Kuwabara
Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by segmental vasospasm and it is often accompanied by either posterior reversible encephalopathy syndrome or stroke. However, other MRI abnormalities have rarely been reported. A 28-year-old woman presented with a thunderclap headache immediately after delivery; MRI showed segmental vasoconstriction and an abnormal signal in the splenium of the corpus callosum. Neuroimaging abnormalities normalized 20 days after the first examination. Only two cases of RCVS with transient splenial lesions (TSL) have so far been reported...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27836006/mycoplasma-pneumoniae-associated-mild-encephalitis-encephalopathy-with-a-reversible-splenial-lesion-report-of-two-pediatric-cases-and-a-comprehensive-literature-review
#16
Norishi Ueda, Satoshi Minami, Manabu Akimoto
BACKGROUND: No literature review exists on Mycoplasma pneumoniae-associated mild encephalitis/encepharopathy with a reversible splenial lesion (MERS). METHODS: M.pneumoniae-associated MERS cases were searched till August 2016 using PubMed/Google for English/other-language publications and Ichushi ( http://www.jamas.or.jp/ ) for Japanese-language publications. Inclusion criteria were children fulfilling definition for encephalitis, M.pneumoniae infection, and neuroimaging showing hyperintensity in the splenium of the corpus callosum (SCC) alone (type I) or SCC/other brain areas (type II)...
November 11, 2016: BMC Infectious Diseases
https://www.readbyqxmd.com/read/27823946/clinically-mild-encephalitis-encephalopathy-with-a-reversible-splenial-lesion-of-corpus-callosum-in-chinese-children
#17
Qiong Fang, Lang Chen, Qiaobin Chen, Zhi Lin, Fang Yang
OBJECTIVE: To investigate the characteristics and etiology of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in Chinese children. METHODS: We collected ten pediatric MERS patients from local hospital and enrolled another nineteen patients by reviewing the available literatures. The information of enrolled patients about clinical features, laboratory data, treatment strategies and prognoses were collected for further analysis. RESULTS: A total of 29 children, the median age of twenty-nine patients was (4...
April 2017: Brain & Development
https://www.readbyqxmd.com/read/27805338/metronidazole-induced-encephalopathy
#18
Nisarg Thakkar, Bhaarat, Ramesh Chand, Raman Sharma, Sunil Mahavar, Swati Srivastava, Arvind Palawat
Metronidazole is an antimicrobial used for the treatment of anaerobic bacterial and protozoal infections. Neurological toxicity due to metronidazole use has been a matter of concern and many case reports of neurotoxicity are being published. We report here a case of a 32 years old male chronic alcoholic with multiple liver abscesses and history of 6 weeks use of metronidazole presenting with multiple episodes of seizures, burning sensation of feet and altered sensorium. MRI Brain revealed characteristic and reversible involvement of dentate nuclei and splenium of corpus callosum, typical of metronidazole induced encephalopathy (MIE)...
November 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27777703/mild-encephalopathy-with-reversible-lesions-in-the-splenium-of-corpus-callosum-and-bilateral-cerebral-deep-white-matter-in-identical-twins
#19
Junko Tahara, Jun Shinozuka, Hitoshi Awaguni, Shin-Ichiro Tanaka, Shigeru Makino, Rikken Maruyama, Shinsaku Imashuku
Identical twin brothers developed mild encephalopathy at the age of 7.0 and 9.7 years (Patient 1) and 10.7 years (Patient 2). Patient 1 had influenza A at the time of his second episode, but triggering agents were not evident at the first episode. The triggering agents in Patient 2 were unclear. The neurological features of both patients included transient facial numbness, left arm paresis, dysarthria, and gait disturbance. Diffusion-weighted images from magnetic resonance imaging showed high signal levels at the splenium of corpus callosum and in the bilateral cerebral deep white matter...
September 19, 2016: Pediatric Reports
https://www.readbyqxmd.com/read/27743886/a-case-of-early-onset-epileptic-encephalopathy-with-de-novo-mutation-in-slc35a2-clinical-features-and-treatment-for-epilepsy
#20
Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, Asako Horino, Takayoshi Koike, Shinsaku Yoshitomi, Tatsuo Mori, Tokito Yamaguchi, Hiroko Ikeda, Nobuhiko Okamoto, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Katsumi Imai
INTRODUCTION: Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). CASE REPORT: A female infant aged 12months was referred to our center because of intractable seizures. The patient was born with birth weight of 3228g after 40weeks of unremarkable gestation...
March 2017: Brain & Development
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