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Acute ataxia

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https://www.readbyqxmd.com/read/28101805/ketogenic-diet-in-pyruvate-dehydrogenase-complex-deficiency-short-and-long-term-outcomes
#1
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...
January 18, 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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/28000909/-language-disorders-in-acute-cerebellitis-beyond-dysarthria
#5
D Barragan-Martinez, N Nunez-Enamorado, M Berenguer-Potenciano, N Villora-Morcillo, A Martinez de Aragon, A Camacho-Salas
INTRODUCTION: Acute cerebellitis is one of the main causes of cerebellar syndrome in infancy. Among the wide range of manifestations, headache and ataxia being the most predominant, we can find other less frequent, although nonetheless interesting, ones, such as language disorders, which go beyond the well-known cerebellar dysarthria. The different combinations in which the symptoms can appear, especially when not accompanied by ataxia, make the condition a real challenge for the clinician...
January 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/27988455/delayed-diagnosis-of-wernicke-encephalopathy-with-irreversible-neural-damage-after-subtotal-gastrectomy-for-gastric-cancer-a-case-of-medical-liability
#6
Pamela Tozzo, Luciana Caenazzo, Daniele Rodriguez, Matteo Bolcato
INTRODUCTION: Wernicke's encephalopathy (WE) is a neurological syndrome caused by thiamine deficiency, and clinically characterized by ophthalmoplegia, ataxia and acute confusion. In developed countries, most cases of WE have been seen in alcohol misusers. Other reported causes are gastrointestinal tract surgery, hyperemesis gravidarum, chronic malnutrition, prolonged total parenteral nutrition without thiamine supplementation, and increased nutrient requirements as in trauma or septic shock...
December 1, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27984128/dna-damage-response-in-nephrotoxic-and-ischemic-kidney-injury
#7
REVIEW
Mingjuan Yan, Chengyuan Tang, Zhengwei Ma, Shuang Huang, Zheng Dong
DNA damage activates specific cell signaling cascades for DNA repair, cell cycle arrest, senescence, and/or cell death. Recent studies have demonstrated DNA damage response (DDR) in experimental models of acute kidney injury (AKI). In cisplatin-induced AKI or nephrotoxicity, the DDR pathway of ATR/Chk2/p53 is activated and contributes to renal tubular cell apoptosis. In ischemic AKI, DDR seems more complex and involves at least the ataxia telangiectasia mutated (ATM), a member of the phosphatidylinositol 3-kinase-related kinase (PIKK) family, and p53; however, while ATM may promote DNA repair, p53 may trigger cell death...
October 27, 2016: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/27957508/neurochondrin-is-a-neuronal-target-antigen-in-autoimmune-cerebellar-degeneration
#8
Ramona Miske, Catharina C Gross, Madeleine Scharf, Kristin S Golombeck, Marvin Hartwig, Urvashi Bhatia, Andreas Schulte-Mecklenbeck, Kathrin Bönte, Christine Strippel, Ludger Schöls, Matthis Synofzik, Hubertus Lohmann, Inga Madeleine Dettmann, Michael Deppe, Swantje Mindorf, Tobias Warnecke, Yvonne Denno, Bianca Teegen, Christian Probst, Stefanie Brakopp, Klaus-Peter Wandinger, Heinz Wiendl, Winfried Stöcker, Sven G Meuth, Lars Komorowski, Nico Melzer
OBJECTIVE: To report on a novel neuronal target antigen in 3 patients with autoimmune cerebellar degeneration. METHODS: Three patients with subacute to chronic cerebellar ataxia and controls underwent detailed clinical and neuropsychological assessment together with quantitative high-resolution structural MRI. Sera and CSF were subjected to comprehensive autoantibody screening by indirect immunofluorescence assay (IFA) and immunoblot. Immunoprecipitation with lysates of hippocampus and cerebellum combined with mass spectrometric analysis was used to identify the autoantigen, which was verified by recombinant expression in HEK293 cells and use in several immunoassays...
January 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/27955629/cerebellar-ataxia-due-to-leptospirosis-a-case-report
#9
Rajveer Singh, Dheeraj Khurana, Sahil Mehta, Aditya Choudhary, Gayathri Petluri, Vivek Lal
BACKGROUND: Leptospirosis involves nervous system in around 10-15% of the cases, the commonest presentation being aseptic meningitis. Most of the clinical features of neuroleptospirosis are due to capillary endothelial damage and vasculitis. Ataxia is an extremely uncommon manifestation of Leptospirosis occuring in <5% of cases. CASE PRESENTATION: A 28 year old female from North India presented with a short febrile illness followed by an acute onset cerebellar ataxia, anemia, thrombocytopenia and transaminitis...
December 12, 2016: BMC Infectious Diseases
https://www.readbyqxmd.com/read/27932510/embolization-of-intracranial-dural-arteriovenous-fistulas-using-phil-liquid-embolic-agent-in-26-patients-a-multicenter-study
#10
S Lamin, H S Chew, S Chavda, A Thomas, M Piano, L Quilici, G Pero, M Holtmannspolter, M E Cronqvist, A Casasco, L Guimaraens, L Paul, A Gil Garcia, A Aleu, R Chapot
BACKGROUND AND PURPOSE: The introduction of liquid embolic agents has revolutionized endovascular approach to cranial vascular malformations. The aim of the study was to retrospectively assess the efficacy and safety of Precipitating Hydrophobic Injectable Liquid (PHIL), a new nonadhesive liquid embolic agent, in the treatment of patients with cranial dural arteriovenous fistulas. The primary end point was the rate of complete occlusion of dural arteriovenous fistulas. Secondary end points included the incidence of adverse events and clinical status at 3-month follow-up...
December 8, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/27928389/oculomotor-nerve-palsy-presented-with-isolated-unilateral-ptosis-and-minimal-upgaze-palsy
#11
Canan Togay Işıkay, Busra S Polat
This case with unilateral complete blepharoptosis and slight limitation of upgaze as ocular findings due to midbrain infarction represents an unusual form of intra-axial oculomotor nerve involvement. A 65-year-old man was admitted with acute unilateral ptosis of the left eyelid and gait ataxia. He had chronic hypertension in the medical history. The neurologic examination revealed that he had a complete ptosis of the left eyelid, slight limitation of elevation in the left eye, bilateral dysmetria, and gait ataxia...
April 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27894792/pyruvate-dehydrogenase-e1%C3%AE-deficiency-presenting-as-recurrent-acute-proximal-muscle-weakness-of-upper-and-lower-extremities-in-an-8-year-old-boy
#12
Bülent Kara, Hülya Maraş Genç, Emek Uyur-Yalçın, Ayfer Sakarya-Güneş, Uğur Topçu, Serap Mülayim, Serdar Ceylaner
The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid-base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis. Paroxysmal neurologic problems such as intermittent ataxia, episodic weakness, exercise-induced dystonia and recurrent demyelination may also be seen although they are rare...
January 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27876395/massive-lamotrigine-poisoning-a-case-report
#13
Salvatore Grosso, Silvia Ferranti, Carla Gaggiano, Elisabetta Grande, Barbara Loi, Rosanna Di Bartolo
Lamotrigine (LTG) represents the most commonly prescribed of the so-called new generation antiepileptic drugs. We describe a child who was admitted to the emergency room because of generalized tonic-clonic status epilepticus followed by a complex neurological picture with hyperkinesia and acute ataxia as a result of a LTG intoxication. The experience on acute LTG intoxication is very limited in pediatrics. The present case provides information on the clinical picture related to LTG overdose and confirms that drug intoxications should be considered in the differential diagnosis strategy when severe and polymorphic neurological symptoms occur acutely...
November 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/27862026/unusual-presentation-of-sj%C3%A3-gren-associated-neuropathy-with-plasma-cell-rich-infiltrate
#14
Elie Naddaf, Sarah E Berini, P James B Dyck, Ruple S Laughlin
INTRODUCTION: Sjögren syndrome is thought to be a lymphocyte-driven process. Peripheral nervous system involvement occurs in about 20-25% of patients. A sensory predominant, large fiber peripheral neuropathy is most common, and it is usually associated with a subacute to chronic presentation. METHODS: We report a rare case of an acute Sjögren-associated, sensory predominant, length-dependent peripheral neuropathy mimicking Guillain-Barré syndrome. The patient presented with sensory ataxia preceded by fever and polyarthralgia...
November 16, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27855658/cytomegalovirus-associated-encephalomyelitis-in-an-immunocompetent-adult-a-two-stage-attack-of-direct-viral-and-delayed-immune-mediated-invasions-case-report
#15
Kensuke Daida, Yuta Ishiguro, Hiroto Eguchi, Yutaka Machida, Nobutaka Hattori, Hideto Miwa
BACKGROUND: It is clinically rare to find cytomegalovirus (CMV)-associated encephalomyelitis in immunocompetent adults. Here, we present the case of an adult patient who developed acute transverse myelitis that was followed by immune-mediated disseminated encephalomyelitis. CASE PRESENTATION: A 38-year-old man developed acute paraplegia with paresthesia below the level of the T7-8 dermatome. Both brain and spinal cord MRIs performed at admission appeared normal...
November 17, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27826325/enterovirus-71-infection-and-neurological-complications
#16
REVIEW
Kyung Yeon Lee
Since the outbreak of the enterovirus 71 (EV71) infection in Malaysia in 1997, large epidemics of EV71 have occurred in the Asia-Pacific region. Many children and infants have died from serious neurological complications during these epidemics, and EV71 infection has become a serious public health problem in these areas. EV71 infection causes hand, foot and mouth disease (HFMD) in children, and usually resolves spontaneously. However, EV71 occasionally involves the central nervous system (CNS), and induces diverse neurological complications such as brainstem encephalitis, aseptic meningitis, and acute flaccid paralysis...
October 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27821089/posterior-reversible-encephalopathy-as-the-first-manifestation-of-bickerstaff-s-brainstem-encephalitis
#17
Pei-Ru Chen, Shih-Pin Chen
BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) has been associated with Guillain-Barre syndrome in rare cases. Here we report a patient in whom PRES was the presenting manifestation of Bickerstaff's brainstem encephalitis. CASE PRESENTATION: A 75-year-old woman presented with acute onset of hypertension, headache, blurred vision, and left eyelid drooping. Magnetic resonance imaging of the brain showed characteristic PRES lesions involving the parietal and occipital lobes bilaterally...
November 8, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27817982/from-genotype-to-phenotype-in-dravet-disease
#18
Svetlana Gataullina, Olivier Dulac
Dravet syndrome combines clonic generalized, focal or unilateral seizures, beginning within the first year of life, often triggered by hyperthermia whatever its cause, including pertussis vaccination. Long-lasting febrile seizures are frequent in infancy and repeat status epilepticus (SE) has negative prognostic value. Massive myoclonus, rare absences, complex partial seizures and generalized spikes may appear several years later. Myoclonic status may occur in childhood, but acute encephalopathy with febrile SE followed by ischemic lesions and psychomotor impairment, the most severe condition, occurs mainly within the first five years of life...
October 21, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27802825/mog-igg-in-nmo-and-related-disorders-a-multicenter-study-of-50-patients-part-3-brainstem-involvement-frequency-presentation-and-outcome
#19
Sven Jarius, Ingo Kleiter, Klemens Ruprecht, Nasrin Asgari, Kalliopi Pitarokoili, Nadja Borisow, Martin W Hümmert, Corinna Trebst, Florence Pache, Alexander Winkelmann, Lena-Alexandra Beume, Marius Ringelstein, Oliver Stich, Orhan Aktas, Mirjam Korporal-Kuhnke, Alexander Schwarz, Carsten Lukas, Jürgen Haas, Kai Fechner, Mathias Buttmann, Judith Bellmann-Strobl, Hanna Zimmermann, Alexander U Brandt, Diego Franciotta, Kathrin Schanda, Friedemann Paul, Markus Reindl, Brigitte Wildemann
BACKGROUND: Myelin oligodendrocyte glycoprotein antibodies (MOG-IgG) are present in a subset of aquaporin-4 (AQP4)-IgG-negative patients with optic neuritis (ON) and/or myelitis. Little is known so far about brainstem involvement in MOG-IgG-positive patients. OBJECTIVE: To investigate the frequency, clinical and paraclinical features, course, outcome, and prognostic implications of brainstem involvement in MOG-IgG-positive ON and/or myelitis. METHODS: Retrospective case study...
November 1, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27796550/hodgkin-s-lymphoma-associated-with-paraneoplastic-cerebellar-degeneration-in-children-a-case-report-and-review-of-the-literature
#20
Serdal Gungor, Betul Kilic, Mujgan Arslan, Unsal Ozgen, Josep Dalmau
Paraneoplastic cerebellar degeneration (PCD) can occur severely and appear as subacute cerebellar syndrome. PCD may be associated with small cell lung cancer, adenocarcinoma, breast cancer, ovarian carcinoma, and Hodgkin's lymphoma. An 11-year-old male was admitted with acute cerebellar ataxia, dysarthria, and diplopia. Mediastinal conglomerated lymph nodes were depicted in a chest computed tomography (CT) examination, and diagnosis of stage IV Hodgkin's lymphoma was obtained after a lymph node biopsy. The antibodies against Purkinje cells (anti-Tr antibody) were positive immunohistochemically...
October 29, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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