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Epilepsy and dysphagia

Pablo Roa Rojas, Hernán Arango Fernández, Martha Rebolledo Cobos, Jonathan Harris Ricardo
Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewing, swallowing, phonation and breathing, resulting in a closure of the upper airway. The therapeutic option of choice is partial glossectomy. We present a 2-month-old pediatric patient with Beckwith-Wiedemann syndrome and area blockage due to severe macroglossia; in the medical history, congenital heart disease, interatrial communication, persistent ductus arteriosus, symptomatic epilepsy, renal failure, hypoglycemia, tracheotomy and gastrostomy, due to airway collapse and dysphagia...
April 1, 2018: Archivos Argentinos de Pediatría
Roger W Byard
While the majority of intracranial meningiomas have an indolent clinical course, sudden and unexpected death may rarely occur. Two cases are reported to demonstrate rapid clinical deterioration resulting in death in individuals with large, grade I, parasagittal meningiomas. Case 1 was a 46-year-old man with a history of headaches and epilepsy who suddenly collapsed and died. A large right frontal parasagittal meningioma with haemorrhage had compressed the brain and lateral ventricle, causing tonsillar herniation...
January 1, 2017: Medicine, Science, and the Law
Carlotta Spagnoli, Grazia Gabriella Salerno, Alessandro Iodice, Daniele Frattini, Francesco Pisani, Carlo Fusco
KCNQ2 encephalopathy is characterized by severely abnormal EEG, neonatal-onset epilepsy and developmental delay. It is caused by mutations (typically missense) in the KCNQ2 gene, encoding the voltage gated potassium channel Kv7.2 and leading to a negative-dominant effect. We present one case experiencing recurrent neonatal seizures with changing hemispheres of origin, reminiscent of epilepsy of infancy with migrating focal seizures. At 9months of age the patient is still seizure-free on carbamazepine, although he is developing a spastic-dystonic tetraplegia with severe dysphagia...
January 2018: Brain & Development
Swati Khare, Jerelyn A Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P W Ranum, Lisa Smithson, Todd E Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E Rincon-Limas, Jada Lewis, Leonard K Kaczmarek, Pedro Fernandez-Funez, Harry S Nick, Michael F Waters
The autosomal dominant spinocerebellar ataxias (SCAs) are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. Our study focuses on SCA13, which is caused by several allelic variants in the voltage-gated potassium channel KCNC3 (Kv3...
2017: PloS One
Flavio Giordano, Anna Zicca, Carmen Barba, Renzo Guerrini, Lorenzo Genitori
Indications for vagus nerve stimulation (VNS) therapy include focal, multifocal epilepsy, drop attacks (tonic/atonic seizures), Lennox-Gastaut syndrome, tuberous sclerosis complex (TSC)-related multifocal epilepsy, and unsuccessful resective surgery. Surgical outcome is about 50-60% for seizures control, and may also improve mood, cognition, and memory. On this basis, VNS has also been proposed for the treatment of major depression and Alzheimer's' disease. The vagus nerve stimulator must be implanted with blunt technique on the left side to avoid cardiac side effects through the classic approach for anterior cervical discectomy...
April 2017: Epilepsia
C Avellaneda-Gómez, A Rodríguez Campello, E Giralt Steinhauer, A Gómez González, M Serra Martínez, P de Ceballos Cerrajería, A Zabalza de Torres, E Cuadrado-Godia, A Ois Santiago, J Jiménez-Conde, J Roquer
INTRODUCTION: A considerable percentage of events initially diagnosed as ischaemic stroke have non-cerebrovascular causes; these are called stroke mimics (SM). Currently available evidence about these events is heterogeneous and comes from studies with small samples. OBJECTIVE: The purpose of our study is to identify conditions that may present as SM, define their epidemiological and clinical characteristics, and determine the percentage of cases of SM treated with intravenous fibrinolysis...
February 4, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
Jean-Pascal Lefaucheur
Transcranial direct current stimulation (tDCS) is a technique of noninvasive cortical stimulation allowing significant modification of brain functions. Clinical application of this technique was reported for the first time in March 2005. This paper presents a detailed list of the 340 articles (excluding single case reports) which have assessed the clinical effect of tDCS in patients, at least when delivered to cortical targets. The reviewed conditions were: pain syndromes, Parkinson's disease, dystonia, cerebral palsy, post-stroke limb motor impairment, post-stroke neglect, post-stroke dysphagia, post-stroke aphasia, primary progressive aphasia, multiple sclerosis, epilepsy, consciousness disorders, Alzheimer's disease and other types of dementia, tinnitus, depression, auditory hallucinations and negative symptoms of schizophrenia, addiction and craving, autism, and attention disorders...
December 2016: Neurophysiologie Clinique, Clinical Neurophysiology
P Roldan-Ramos, L A Reyes-Figueroa, J Rumia, E Martinez-Lizana, A Donaire, M Carreno-Martinez
AIM: To describe clinical results and complications derived from vagal nerve stimulation therapy in drug resistant epileptic patients unsuitable for other surgical treatments, since the first implant in an epilepsy national referral centre. PATIENTS AND METHODS: A retrospective analysis of the patients implanted in our centre was held. Data related to baseline characteristics of their epilepsy and therapy complications was collected. RESULTS: 32 new implants in 31 patients are included, mean age of 34 years, 29...
November 1, 2016: Revista de Neurologia
Junpei Koge, Shintaro Hayashi, Hiroo Yamaguchi, Takahisa Tateishi, Hiroyuki Murai, Jun-Ichi Kira
A 37-old-male with a history of early childhood mental retardation was admitted to our hospital. He experienced recurrent syncopes at 23 years old, and at age 35 gait disturbance and hearing impairment developed gradually and worsened over time. His grandparents were in a consanguineous marriage. He was of short stature and absent of tendon xanthomas. Neurological examinations revealed scanning speech, dysphagia, right sensorineural hearing loss, spasticity in both upper and lower extremities, and spastic gait...
October 28, 2016: Rinshō Shinkeigaku, Clinical Neurology
G Glover, R Williams, P Heslop, J Oyinlola, J Grey
BACKGROUND: People with intellectual disabilities (IDs) die at younger ages than the general population, but nationally representative and internationally comparable mortality data about people with ID, quantifying the extent and pattern of the excess, have not previously been reported for England. METHOD: We used data from the Clinical Practice Research Datalink database for April 2010 to March 2014 (CPRD GOLD September 2015). This source covered several hundred participating general practices comprising roughly 5% of the population of England in the period studied...
January 2017: Journal of Intellectual Disability Research: JIDR
E A van Timmeren, C P van der Schans, A A J van der Putten, W P Krijnen, H A Steenbergen, H M J van Schrojenstein Lantman-de Valk, A Waninge
BACKGROUND: People with severe or profound intellectual and motor disabilities (SPIMD) encounter several risk factors associated with higher mortality rates. They are also likely to experience a cluster of health problems related to the severe brain damage/dysfunction. In order to earlier detect physical health problems in people with SPIMD, first of all, knowledge regarding the prevalence of physical health problems is necessary. The aim of this systematic review was to methodically review cross-sectional studies on the prevalence of various types of physical health problems in adults with SPIMD...
January 2017: Journal of Intellectual Disability Research: JIDR
Judith Altmann, Boriana Büchner, Aleksandra Nadaj-Pakleza, Jochen Schäfer, Sandra Jackson, Diana Lehmann, Marcus Deschauer, Robert Kopajtich, Ronald Lautenschläger, Klaus A Kuhn, Kathrin Karle, Ludger Schöls, Jörg B Schulz, Joachim Weis, Holger Prokisch, Cornelia Kornblum, Kristl G Claeys, Thomas Klopstock
The m.8344A>G mutation in the MTTK gene, which encodes the mitochondrial transfer RNA for lysine, is traditionally associated with myoclonic epilepsy and ragged-red fibres (MERRF), a multisystemic mitochondrial disease that is characterised by myoclonus, seizures, cerebellar ataxia, and mitochondrial myopathy with ragged-red fibres. We studied the clinical and paraclinical phenotype of 34 patients with the m.8344A>G mutation, mainly derived from the nationwide mitoREGISTER, the multicentric registry of the German network for mitochondrial disorders (mitoNET)...
May 2016: Journal of Neurology
Arseny A Sokolov, Andrea O Rossetti, Patrik Michel, David Benninger, Bernard Nater, Christian Wider, Lorenz Hirt, Thierry Kuntzer, Jean-François Démonet, Renaud A Du Pasquier, François Vingerhoets
In 2015, cerebral stimulation becomes increasingly established in the treatment of pharmacoresistant epilepsy. Efficacy of endovascular treatment has been demonstrated for acute ischemic stroke. Deep brain stimulation at low frequency improves dysphagia and freezing of gait in Parkinson patients. Bimagrumab seems to increase muscular volume and force in patients with inclusion body myositis. In cluster-type headache, a transcutaneous vagal nerve stimulator is efficient in stopping acute attacks and also reducing their frequency...
January 13, 2016: Revue Médicale Suisse
Xuqin Chen, Deepak Gill, Peter Shaw, Robert Ouvrier, Christopher Troedson
The purpose of this study was to determine whether transplantation of umbilical cord blood from unrelated donors before the development of symptoms could halt the progression of early juvenile onset cases of MLD in whom the disease was diagnosed based on the family history. Three asymptomatic children (aged 2 years 4 months, 2 years 8 months and 5 years 5 months, two of whom were sisters) underwent unrelated umbilical cord blood transplantation (UCBT) and two untreated symptomatic siblings were included in the study...
March 2016: Journal of Child Neurology
Kirbylee K Nelson, Steven B Clayton, Anne L Champeaux, John C Feldman, Joel E Richter
A 50-year-old man with a history of epilepsy controlled with phenytoin presented for evaluation of dysphagia. History revealed the patient was taking his phenytoin daily without water. Barium esophagram showed severe stricturing of the mid-esophagus. Upper endoscopy revealed diffuse gross mucosal abnormality with a thick stricture and occasional exudate. Biopsies were consistent with a drug-induced injury with lymphocytic infiltration and epithelial cell necrosis.
January 2015: ACG Case Reports Journal
Gudrun Kalss, Julia Höfler, Alexandra Rohracher, Ildiko Deak, Judith Dobesberger, Giorgi Kuchukhidze, Markus Leitinger, Kathrin Ogris, Mark Mc Coy, Eugen Trinka
INTRODUCTION: Wolf Dietrich of Raitenau (WD) ruled the archiepiscopal Salzburg from March 2nd 1587 to December 17th 1611. He was condemned by his successor Archbishop Markus Sittikus of Hohenems to spend his last years imprisoned at the Fortress Hohensalzburg, where he died on January 16th 1617. This historical note describes the causes of his death. MATERIALS AND METHODS: The original Latin handwriting, including the detailed medical history and the autopsy of the Archbishop's body performed by his personal physician, was analyzed in conjunction with historical handwritings provided by St...
August 2015: Epilepsy & Behavior: E&B
Chang-Yong Tsao
We encountered an adolescent male with cerebellar ataxia since age 11, difficulty in vertical gaze from age 2, leg weakness since age 10, and partial epilepsy since age 8. At age 14, he developed visual and auditory hallucinations, as well as mild sensorineural deafness. He was evaluated as having a mitochondrial disorder. No common mitochondrial DNA mutations were detected in the blood. Muscle biopsy revealed nonspecific changes and normal respiratory chain enzyme complexes. He developed progressive cognitive decline leading to diagnosis of dementia at age 15, and intractablepartial epilepsy persisted despite treatment with multiple anticonvulsants...
June 2014: Seminars in Pediatric Neurology
V A Karlov, A V Lebedeva, A Iu Stepanenko, I G Rudakova, P N Vlasov, L V Lipatova, K A Popugaev, A L Golovteev, A B Gekht
The literature data on using intravenous forms of AEDs that expand treatment possibilities for patients with epilepsy are presented. AEDs can be used in different situations, when patients are not able to take AEDs in per os. These situations can include seizure emergencies (recurrent seizures, clusters, status epilepticus), caused by disease decompensation; acute symptomatic seizures; perioperative preparation in the case of surgery; dysphagia; gastrointestinal problems; psychiatric disorders, and others. This article is based on a review of International and Russian expert consensus practice guidelines for management of clinical situations mentioned above...
2014: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Robert T Buckley, Tiffany Morgan, Russell P Saneto, Jason Barber, Richard G Ellenbogen, Jeffrey G Ojemann
OBJECT: Functional hemispherectomy is a well-recognized surgical option for the treatment of unihemispheric medically intractable epilepsy. While the resultant motor deficits are a well-known and expected consequence of the procedure, the impact on other cortical functions has been less well defined. As the cortical control of swallowing would appear to be threatened after hemispherectomy, the authors retrospectively studied a pediatric population that underwent functional hemispherectomy for medically intractable epilepsy to characterize the incidence and severity of dysphagia after surgery...
January 2014: Journal of Neurosurgery. Pediatrics
Antoni Torres, Willy E Peetermans, Giovanni Viegi, Francesco Blasi
BACKGROUND: Community-acquired pneumonia (CAP) causes considerable morbidity and mortality in adults, particularly in the elderly. METHODS: Structured searches of PubMed were conducted to identify up-to-date information on the incidence of CAP in adults in Europe, as well as data on lifestyle and medical risk factors for CAP. RESULTS: The overall annual incidence of CAP in adults ranged between 1.07 to 1.2 per 1000 person-years and 1.54 to 1...
November 2013: Thorax
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