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Corpus callosum & encephalopathy

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https://www.readbyqxmd.com/read/29757148/mild-encephalitis-encephalopathy-with-a-reversible-splenial-lesion-in-children
#1
Adalet Elçin Yıldız, Hülya Maraş Genç, Esra Gürkaş, Havva Akmaz Ünlü, İbrahim Halil Öncel, Alev Güven
PURPOSE: We aimed to present clinical and radiologic characteristics of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children. METHODS: Eight children (5 boys and 3 girls; median age, 5.9 years; age range, 8 months to 14.1 years) diagnosed with MERS between September 2015 and June 2017 were included in the study. We reviewed the patient's data, including demographic characteristics, prodromal and neurologic symptoms, neurologic examination, magnetic resonance imaging and electroencephalography findings, laboratory findings, treatment, and prognosis...
March 2018: Diagnostic and Interventional Radiology: Official Journal of the Turkish Society of Radiology
https://www.readbyqxmd.com/read/29675082/susac-s-syndrome-retinocochleocerebral-vasculopathy-follow-up-of-a-pediatric-patient
#2
Zeynep Selen Karalok, Birce Dilge Taskin, Alev Guven, Cemile Atilgan Ucgul, Omer Faruk Aydin
Susac's syndrome (SS) is a triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss as a result of microvascular occlusions of the brain, retina, and inner ear. It is also a disorder of autoimmune endotheliopathy. SS usually affects young women between the age of 20 and 40 years. SS can be misdiagnosed as multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM) because of similar findings. A 15-year-old girl presented in June 2015 with vomiting and severe headache...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29666887/reversible-lesions-of-the-corpus-callosum-with-initially-restricted-diffusion-in-a-series-of-caucasian-children
#3
Anthony Le Bras, Maia Proisy, Mathieu Kuchenbuch, Constantin Gomes, Catherine Tréguier, Sylvia Napuri, Emmanuel Quehen, Bertrand Bruneau
BACKGROUND: Reversible lesions of the corpus callosum with initial restricted diffusion on diffusion-weighted imaging (DWI) are rare and mainly described in the south Asiatic population. OBJECTIVE: The purpose of this study was to describe the clinical presentation, imaging findings, prognosis and etiology of transient restricted diffusion lesions of the corpus callosum in a series of Caucasian children. MATERIALS AND METHODS: Seven children presenting with a transient restricted DWI lesion of the corpus callosum were included...
April 17, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29648595/progesterone-as-a-postnatal-prophylactic-agent-for-encephalopathy-caused-by-prenatal-hypoxic-ischemic-insult
#4
Yoshimasa Kawarai, Hirokazu Tanaka, Tatsuya Kobayashi, Makio Shozu
Brain damage caused by hypoxic ischemic insult during the perinatal period causes hypoxic ischemic encephalopathies (HIEs). Therapeutic hypothermia is indicated for HIE, but since the therapeutic burden is large for its limited therapeutic effectiveness, another strategy is needed. Progesterone (P4) plays a neuroprotective role through the actions of its metabolite, allopregnanolone (Allo), on P4 receptor, GABA (γ-aminobutyric acid)A receptors or both. We examined the therapeutic potential of P4 using a newborn rat model of HIE...
April 10, 2018: Endocrinology
https://www.readbyqxmd.com/read/29606344/agraphia-with-reversible-splenial-corpus-callosum-lesion-caused-by-hypoglycemia
#5
Yukari Miyakawa, Tatsuo Fuchigami, Masako Aoki, Yusuke Mine, Junichi Suzuki, Tatsuhiko Urakami, Shori Takahashi
BACKGROUND: Neurological manifestations caused by hypoglycemia range from reversible focal deficits and transient encephalopathy to irreversible coma or death. Recently, high signal intensity lesions in the splenium of the corpus callosum on diffusion-weighted magnetic resonance imaging were reported in adults experiencing hypoglycemia. However, patients presenting with agraphia are rare. SUBJECT AND METHODS: We examined a 17-year-old left-handed female patient with type 1 diabetes who exhibited transient left agraphia with a reversible splenium lesion of the corpus callosum on diffusion-weighted imaging caused by hypoglycemia, which was improved with blood glucose management alone...
March 29, 2018: Brain & Development
https://www.readbyqxmd.com/read/29563947/mild-encephalopathy-with-a-reversible-splenial-lesion-in-a-girl-with-acute-pyelonephritis
#6
Jung Sook Yeom, Chung Mo Koo, Ji Sook Park, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Hyang-Ok Woo, Hee-Shang Youn
We report the case of a 12-year-old girl who had mild encephalopathy with a reversible splenial lesion (MERS) associated with acutepyelonephritis caused by Escherichia coli . The patient was admitted with a high fever, and she was diagnosed with acute pyelonephritis based on pyuria and the results of urine culture, which detected cefotaxime-sensitive E. coli . Although intravenous cefotaxime and tobramycin were administered, her fever persisted and her C-reactive protein level increased to 307 mg/L. On day 3 of admission, she demonstrated abnormal neuropsychiatric symptoms, such as delirium, ataxia, and word salad...
February 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29443784/a-thyroid-storm-patient-with-protracted-disturbance-of-consciousness-and-reversible-lesion-in-the-splenium-of-corpus-callosum-a-case-report
#7
Chihiro Namatame, Tomohiro Sonoo, Kazutaka Fukushima, Hiromu Naraba, Hideki Hashimoto, Kensuke Nakamura
RATIONALE: Various neurological manifestations are observed in thyroid storm patients but protracted disturbance of consciousness is rare. PATIENT CONCERNS: A 58-year-old male was admitted to our hospital after a traffic accident. DIAGNOSES: Although awake on arrival, he fell into coma after admission. Based on the clinical symptoms and hyperthyroidism, the patient was diagnosed with thyroid storm (TS). INTERVENTIONS: Even after improvement of hyperthyroidism, disturbance of consciousness was protracted...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29434700/distinct-magnetic-resonance-imaging-features-in-a-patient-with-novel-rars2-mutations-a-case-report-and-review-of-the-literature
#8
Jie Zhang, Zhongbin Zhang, Yao Zhang, Ye Wu
Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl-tRNA synthetase 2 (RARS2) gene. To the best of our knowledge, 23 cases with relatively complete clinical data have been reported thus far. In the present study, a case with PCH6 caused by novel RARS2 mutations is described, in which distinct magnetic resonance imaging (MRI) features were identified. In addition, 23 PCH6 cases found in the literature were reviewed. Early onset hypotonia (43...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29430524/agraphia-of-the-left-hand-with-dysfunction-of-the-left-superior-parietal-region-without-callosal-lesions
#9
Ryuta Kinno, Hideaki Ohashi, Yukiko Mori, Azusa Shiromaru, Kenjiro Ono
A 28-year-old right-handed man noticed weakness in his legs, three days after an ephedrine overdose. Initial brain magnetic resonance imaging showed lesions in the parietal regions bilaterally. Computed tomography angiography showed segmental and multifocal vasoconstriction of the cerebral arteries. After treatment, clinical and radiological findings resolved, suggesting the patient had reversible cerebral vasoconstriction syndrome with posterior reversible encephalopathy syndrome. However, he had residual agraphia of the left hand...
March 2018: ENeurologicalSci
https://www.readbyqxmd.com/read/29397615/-clinical-features-and-gene-mutation-analysis-of-patients-with-niemann-pick-disease-type-c
#10
S C Ren, Z X Tian, Y X Deng, Y J Wang, X J Wu, Y Z Zhang, B Q Gao
Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively which included clinical manifestations, laboratory results and NPC1 gene mutation features, and a series of follow-up were carried out about therapeutic efficacy and prognosis...
January 23, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29386497/-a-case-of-acute-leukoencephalopathy-induced-by-a-combination-of-5-fluorouracil-and-metronidazole
#11
Tatsuya Fukumoto, Fumiaki Katada, Susumu Sato, Hidehiro Shibayama, Shigeo Murayama, Toshio Fukutake
We describe a 66-year-old woman who received folinic acid, leucovorin, fluorouracil and oxaliplatin for advanced rectal carcinoma. These drugs were initiated on day 1, and a pelvic abscess was identified on day 7. Piperacillin-tazobactam was initially administered, but was changed to ceftriaxone and metronidazole on day 14 on the basis of antimicrobial susceptibility testing. On the following day, the patient reported blindness, and MRI of the brain showed signal abnormalities in the splenium of the corpus callosum on DWI, suggestive of metronidazole encephalopathy...
February 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29379559/clinical-and-imaging-findings-in-childhood-posterior-reversible-encephalopathy-syndrome
#12
Serdal Gungor, Betul Kilic, Yilmaz Tabel, Ayse Selimoglu, Unsal Ozgen, Sezai Yilmaz
Objective: Posterior reversible encephalopathy syndrome (PRES) is characterized by typical radiologic findings in the posterior regions of the cerebral hemispheres and cerebellum. The symptoms include headache, nausea, vomiting, visual disturbances, focal neurologic deficits, and seizures. The aim of this study is to evaluate the clinical and radiological features of PRES in children and to emphasize the recognition of atypical features. Materials & Methods: We retrospectively examined 23 children with PRES from Mar 2010-Apr 2015 in Inonu University Turgut Ozal Medical Center in Turkey...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29226520/a-novel-homozygous-slc25a1-mutation-with-impaired-mitochondrial-complex-v-possible-phenotypic-expansion
#13
Idan Cohen, Orna Staretz-Chacham, Ohad Wormser, Yonatan Perez, Ann Saada, Rotem Kadir, Ohad S Birk
SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. SLC25A1 encodes the mitochondrial citrate carrier (CIC), which mediates efflux of the mitochondrial tricarboxylic acid (TCA) cycle intermediates citrate and isocitrate in exchange for cytosolic malate. Only a single family with an SLC25A1 mutation has been described in which mitochondrial respiratory chain dysfunction was documented, specifically in complex IV...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29167217/5-fu-induced-leukoencephalopathy-with-reversible-lesion-of-splenium-of-corpus-callosum-in-a-patient-with-colorectal-cancer
#14
Gyanendra Acharya, Maria T Cruz Carreras, Terry Wynne Rice
5-Fluorouracil (5-FU), a commonly used antimetabolite and antineoplastic agent, has been approved for treatment of various cancers. Neurotoxicities are considered extremely rare side effects of 5-FU. We present a case of 5-FU-induced encephalopathy with diffusion-restricted reversible lesion of the splenium of the corpus callosum in a patient with colorectal cancer. The patient presented with confusion, dysarthria and agitation after 5-FU infusion. The prognosis of this toxic effects of 5-FU is usually good if recognised and treated in time...
November 21, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29126888/single-severe-traumatic-brain-injury-produces-progressive-pathology-with-ongoing-contralateral-white-matter-damage-one-year-after-injury
#15
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...
February 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29069042/the-radiological-findings-of-hypoglycemic-encephalopathy-a-case-report-with-high-b-value-dwi-analysis
#16
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
#17
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
#18
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...
February 2018: 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
#19
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
#20
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...
February 2018: Brain & Development
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