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https://www.readbyqxmd.com/read/28318729/acute-cerebellitis-in-paediatric-patients-our-experience
#1
J P García-Iñiguez, F J López-Pisón, P Madurga Revilla, I Montejo Gañán, M Domínguez Cajal, L Monge Galindo, S B Sánchez Marco, M C García Jiménez
INTRODUCTION: Acute cerebellitis is a rare inflammatory disease with a highly variable clinical course that ranges from benign self-limiting symptoms to a fulminant presentation associated with a high risk of death due to compression of the posterior fossa, acute hydrocephalus, and intracranial hypertension. METHODS: We reviewed clinical, laboratory, and radiological findings from children diagnosed with acute cerebellitis between May 2007 and November 2016. We analysed treatments and clinical and radiological progression...
March 15, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28306496/use-of-magnetic-resonance-imaging-guided-biopsy-of-a-vertebral-body-mass-to-diagnose-osteosarcoma-in-a-rottweiler
#2
Rebecca A Krimins, Jan Fritz, Larry A Gainsburg, Patrick R Gavin, Elizabeth A Ihms, David L Huso, Dara L Kraitchman
CASE DESCRIPTION A 9-year-old spayed female Rottweiler with hind limb ataxia was examined because of anorexia and an acute onset of hind limb paresis. CLINICAL FINDINGS Neurologic evaluation revealed hind limb ataxia and symmetric paraparesis with bilaterally abnormal hind limb postural reactions including hopping, hemiwalking, hemistanding, and delayed proprioception, which were suggestive of a lesion somewhere in the T3-L3 segment of the spinal cord. Thoracolumbar radiography revealed an abnormal radiopacity suggestive of a mass at T11...
April 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/28291734/safety-assessment-of-the-aqueous-extract-of-the-flowers-of-nymphaea-lotus-linn-nymphaeaceae-acute-neuro-and-subchronic-oral-toxicity-studies-in-albinos-wistar-rats
#3
Mireille Kameni Poumeni, Danielle Claude Bilanda, Paul Désiré Dzeufiet Djomeni, Yolande Sandrine Mengue Ngadena, Marguerite Francine Mballa, Madeleine Chantal Ngoungoure, Agnès Carolle Ouafo, Théophile Dimo, Pierre Kamtchouing
BACKGROUND: Nymphaea lotus Linn (N. lotus) is a medicinal plant widely used in Cameroon popular medicine, to treat neuropsychiatric conditions, male sexual disorders or as food supplement. However, scientific data on the pharmacotoxic profile of this plant are not available. The safety of N. lotus was assessed in acute, neuro- and subchronic toxicity studies by following the OECD guidelines. Effectively, no data have been published until now in regard to its safety on the nervous system...
March 14, 2017: Journal of Complementary & Integrative Medicine
https://www.readbyqxmd.com/read/28287071/auditory-seizures-in-autoimmune-epilepsy-a-case-with-anti-thyroid-antibodies
#4
Claudia Varrasi, Domizia Vecchio, Luca Magistrelli, Gionata Strigaro, Laura Tassi, Roberto Cantello
In its classic presentation, Hashimoto's encephalopathy is an acute-subacute complex neuropsychiatric syndrome with cognitive impairment, hallucinations, myoclonus, tremor or ataxia, associated with elevated anti-thyroid antibodies. Corticoids and immunotherapy are dramatically effective. However, in some cases, not all the associated features are presented and this delays diagnosis and appropriate treatment. We describe a man with abrupt onset of recurrent auditory seizures resulting in refractory non-convulsive status epilepticus...
March 8, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28285976/high-altitude-illness-in-pilgrims-after-rapid-ascent-to-4380%C3%A2-m
#5
Ken Zafren, Matiram Pun, Nirajan Regmi, Gobinda Bashyal, Bhuwan Acharya, Subarna Gautam, Sujan Jamarkattel, Shankar Raj Lamichhane, Suman Acharya, Buddha Basnyat
BACKGROUND: The goal of the study was to characterize high altitude illness in Nepali pilgrims. METHODS: We kept standardized records at the Himalayan Rescue Association (HRA) Temporary Health Camp at Gosainkund Lake (4380 m) in the Nepal Himalaya during the annual Janai Purnima Festival in 2014. Records included rate of ascent and Lake Louise Score (LLS). We defined High Altitude Headache (HAH) as headache alone or LLS = 2. Acute Mountain Sickness (AMS) was LLS≥3...
March 9, 2017: Travel Medicine and Infectious Disease
https://www.readbyqxmd.com/read/28258876/the-use-of-tissue-plasminogen-activator-in-the-treatment-of-wallenberg-syndrome-caused-by-vertebral-artery-dissection
#6
Alexis Salerno, Bradford V Cotter, Michael E Winters
BACKGROUND: Acute cerebrovascular accident (CVA) is a devastating cause of patient morbidity and mortality. Up to 10% of acute CVAs in young patients are caused by dissection of the vertebral or carotid artery. Wallenberg syndrome results from a CVA in the vertebral or posterior inferior artery of the cerebellum and manifests as various degrees of cerebellar dysfunction. The administration of a thrombolytic medication has been recommended in the treatment of patients with stroke caused by cervical artery dissection...
February 28, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28257643/ataxia-in-children-early-recognition-and-clinical-evaluation
#7
REVIEW
Piero Pavone, Andrea D Praticò, Vito Pavone, Riccardo Lubrano, Raffaele Falsaperla, Renata Rizzo, Martino Ruggieri
BACKGROUND: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex. A careful history, physical examination and some characteristic maneuvers are useful for the diagnosis of ataxia. Some of the causes of ataxia point toward a benign course, but some cases of ataxia can be severe and particularly frightening...
January 13, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28248914/creutzfeldt-jakob-disease-presenting-as-stroke-a-case-report-and-systematic-literature-review
#8
REVIEW
Divya K Sharma, Mike Boggild, Annemarie W van Heuven, Richard P White
BACKGROUND: Creutzfeldt-Jacob disease (CJD) is a human prion disease generally characterized by subacute changes in behavior and intellectual function, often followed by ataxia, vision changes, and myoclonus. Ten percent of cases may present atypically, both symptomatically and in respect to initial investigations. METHODS: We report a case of CJD mimicking acute stroke and review all similar cases in the magnetic resonance imaging era reported in English, identified through a PubMed and SCOPUS search...
March 2017: Neurologist
https://www.readbyqxmd.com/read/28246062/epilepsy-with-myoclonic-atonic-seizures-and-chronic-cerebellar-symptoms-associated-with-antibodies-against-glutamate-receptors-n2b-and-d2-in-serum-and-cerebrospinal-fluid
#9
Ryuki Matsuura, Shin-Ichiro Hamano, Satoru Ikemoto, Yuko Hirata, Kotoko Suzuki, Kenjiro Kikuchi, Yukitoshi Takahashi
A 3-year-old boy with normal development presented with acute cerebellitis at one year and 10 months of age. His truncal ataxia resolved without treatment. He experienced a relapse of truncal ataxia and atonic seizures at 2 years and one month of age. Five months later, he experienced myoclonic atonic seizures. By 3 years of age, the truncal ataxia had become severe, and the frequency of myoclonic atonic seizures increased. Compared to controls, we found higher levels of anti-C-terminal GluN2B and anti-N terminal GluD2 antibodies in the serum, and anti-N terminal GluN2B and anti-C terminal GluD2 antibodies in the cerebrospinal fluid (CSF)...
February 27, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28196983/genomic-profiling-of-acute-lymphoblastic-leukemia-in-ataxia-telangiectasia-patients-reveals-tight-link-between-atm-mutations-and-chromothripsis
#10
M Ratnaparkhe, M Hlevnjak, T Kolb, A Jauch, K K Maass, F Devens, A Rode, V Hovestadt, A Korshunov, A Pastorczak, W Mlynarski, S Sungalee, J Korbel, J Hoell, U Fischer, T Milde, C Kramm, M Nathrath, K Chrzanowska, E Tausch, M Takagi, T Taga, S Constantini, J Loeffen, J Meijerink, S Zielen, G Gohring, B Schlegelberger, E Maass, R Siebert, J Kunz, A E Kulozik, B Worst, D T Jones, S M Pfister, M Zapatka, P Lichter, A Ernst
Recent developments in sequencing technologies led to the discovery of a novel form of genomic instability, termed chromothripsis. This catastrophic genomic event, involved in tumorigenesis, is characterized by tens to hundreds of simultaneously acquired locally clustered rearrangements on one chromosome. We hypothesized that leukemias developing in individuals with Ataxia Telangiectasia, who are born with two mutated copies of the ATM gene, an essential guardian of genome stability, would show a higher prevalence of chromothripsis due to the associated defect in DNA double-strand break repair...
March 14, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28193238/transient-ikk2-activation-in-astrocytes-initiates-selective-non-cell-autonomous-neurodegeneration
#11
Michael Lattke, Stephanie N Reichel, Alexander Magnutzki, Alireza Abaei, Volker Rasche, Paul Walther, Dinis P Calado, Boris Ferger, Thomas Wirth, Bernd Baumann
BACKGROUND: Neuroinflammation is associated with a wide range of neurodegenerative disorders, however the specific contribution to individual disease pathogenesis and selective neuronal cell death is not well understood. Inflammatory cerebellar ataxias are neurodegenerative diseases occurring in various autoimmune/inflammatory conditions, e.g. paraneoplastic syndromes. However, how inflammatory insults can cause selective cerebellar neurodegeneration in the context of these diseases remains open, and appropriate animal models are lacking...
February 13, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28166857/palliative-care-discussions-in-multiple-system-atrophy-a-retrospective-review
#12
Anita M Dayal, Mary E Jenkins, Mandar S Jog, Kurt Kimpinski, Penny MacDonald, Teneille E Gofton
OBJECTIVE: Multiple system atrophy (MSA) is an incurable neurodegenerative illness in which progressive symptoms, including stridor and acute laryngeal obstruction, occur. Advanced care planning and palliative care discussions in people living with MSA are not well defined. The aim of the present study is to evaluate advanced care planning and current practices in palliative care in MSA to identify opportunities for improving quality of care. METHODS: The study is a retrospective chart review assessing the focus and timing of palliative care discussions in people living with MSA...
February 7, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28143879/acute-high-altitude-sickness
#13
Andrew M Luks, Erik R Swenson, Peter Bärtsch
At any point 1-5 days following ascent to altitudes ≥2500 m, individuals are at risk of developing one of three forms of acute altitude illness: acute mountain sickness, a syndrome of nonspecific symptoms including headache, lassitude, dizziness and nausea; high-altitude cerebral oedema, a potentially fatal illness characterised by ataxia, decreased consciousness and characteristic changes on magnetic resonance imaging; and high-altitude pulmonary oedema, a noncardiogenic form of pulmonary oedema resulting from excessive hypoxic pulmonary vasoconstriction which can be fatal if not recognised and treated promptly...
January 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28129950/eeg-findings-during-paroxysmal-hemiplegia-in-a-patient-with-glut1-deficiency
#14
S Pellegrin, G Cantalupo, R Opri, B Dalla Bernardina, F Darra
BACKGROUND: A growing number of studies have disclosed the myriad of features that can suggest the diagnosis of a Glucose-transporter-1 deficiency (GLUT1D). The occurrence of paroxysmal movement disorders such as exercise-induced dystonia and non-kinesigenic dyskinesia, received considerable emphasis, while limited attention has been paid to other paroxysmal phenomena, as transitory neurological disorders. These paroxysmal events are roughly and variably described as limb weakness, hemiparesis or ataxia...
January 17, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28123174/new-diagnosis-of-atypical-ataxia-telangiectasia-in-a-17-year-old-boy-with-t-cell-acute-lymphoblastic-leukemia-and-a-novel-atm-mutation
#15
Jasmin Roohi, Jennifer Crowe, Denis Loredan, Kwame Anyane-Yeboa, Mahesh M Mansukhani, Lenore Omesi, Jennifer Levine, Anya Revah Politi, Shan Zha
Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically, it presents in early childhood with progressive cerebellar dysfunction along with immunodeficiency and oculocutaneous telangiectasia. An increased risk of malignancy is also associated with the syndrome and, rarely, may be the presenting feature in small children. We describe a 17-year-old boy with slurred speech, mild motor delays and learning disability diagnosed with atypical A-T in the setting of T-cell acute lymphoblastic leukemia...
January 26, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28116411/meningoencephalitis-caused-by-pathogenic-sarcocystis-species-in-a-naturally-infected-sheep-in-turkey
#16
Aylin Alasonyalilar-Demirer, M Mufit Kahraman, Ahmet Akkoç, S Pelin Erturkuner, E Elif Guzel, Oguz Kul, Volkan Ipek
A 3-year-old sheep was examined after an acute onset of hind limb paralysis and ataxia. At necropsy, central nervous system, pulmonary and intestinal hyperaemia and ecchymoses in the aortic arch were observed. Main microscopic lesions were confined to the heart, cerebrum and cerebellum. There were a multifocal mild myocarditis and nonsuppurative meningoencephalitis together with protozoal cysts in the heart and the brain. Protozoal cystic structures were observed within many of the myocardial fibers as well as in the cerebrum and cerebellum...
February 9, 2017: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
https://www.readbyqxmd.com/read/28101805/ketogenic-diet-in-pyruvate-dehydrogenase-complex-deficiency-short-and-long-term-outcomes
#17
Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darin
OBJECTIVES: Our aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and potential safety and compliance issues. METHODS: Pediatric patients diagnosed with pyruvate dehydrogenase complex deficiency in Sweden and treated with ketogenic diet were evaluated. Study assessments at specific time points included developmental and neurocognitive testing, patient log books, and investigator and parental questionnaires...
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28090073/a-case-of-miller-fisher-syndrome-thromboembolic-disease-and-angioedema-association-or-coincidence
#18
Nooshin Salehi, Eric D Choi, Roger C Garrison
BACKGROUND Miller Fisher Syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia, and is considered to be a variant of Guillain-Barre Syndrome. Miller Fisher Syndrome is observed in approximately 1-5% of all Guillain-Barre cases in Western countries. Patients with Miller Fisher Syndrome usually have good recovery without residual deficits. Venous thromboembolism is a common complication of Guillain-Barre Syndrome and has also been reported in Miller Fisher Syndrome, but it has generally been reported in the presence of at least one prothrombotic risk factor such as immobility...
January 16, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28072960/-novel-compound-heterozygous-tbc1d24-mutations-in-a-boy-with-infantile-focal-myoclonic-epilepsy-and-literature-review
#19
W H Li, S Z Zhou, L M Zhang, X H Wang, Y J Zhang, B B Wu, H J Wang, H W Yang
Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutations. Method: The clinical data of a patient with novel TBC1D24 compound heterozygous mutations from Children's Hospital of Fudan University were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and Pubmed (up to April 2016) by using search terms "TBC1D24" "epilepsy" ...
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28006860/paraneoplastic-cerebellar-degeneration-and-lambert-eaton-myasthenia-in-a-patient-with-merkel-cell-carcinoma-and-voltage-gated-calcium-channel-antibodies
#20
Lucia Pavolucci, Giulia Giannini, Maria Pia Giannoccaro, Maria Pia Foschini, Bethan Lang, Patrizia Avoni, Paolo Tinuper, Angela Vincent, Rocco Liguori
INTRODUCTION: Merkel cell carcinoma is a rare cutaneous, aggressive tumor. Although it shares many neuroendocrine features with small cell lung carcinoma, it has only occasionally been reported with paraneoplastic neurological syndromes. METHODS: A healthy 67 year-old man developed acute ataxia, vertigo, and nausea. Subsequently he also developed dysarthria, diplopia, xerostomia, fatigability and progressive anorexia. He underwent a full diagnostic workup and was found to have a high titer of voltage-gated calcium channel antibodies in serum and cerebrospinal fluid, neurophysiological findings compatible with Lambert-Eaton myasthenia and neurological signs compatible with cerebellar degeneration...
December 22, 2016: Muscle & Nerve
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