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epilepsia partialis continua

Salvatore Grosso, Maria Alessandra Carluccio, Elena Cardaioli, Alfonso Cerase, Alessandro Malandrini, Chiara Romano, Antonio Federico, Maria Teresa Dotti
BACKGROUND: Complex I deficiency is the most common energy generation disorder which may clinically present at any age with a wide spectrum of symptoms and signs. The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading to death after a few months. CASE PRESENTATION: We report a 9year-old boy with a mtDNA T10158C mutation showing a mild MELAS-like phenotype and brain MRI features congruent with both MELAS and Leigh syndrome...
October 11, 2016: Brain & Development
Michael Sweeney, Matthew Sweney, M Mateo Paz Soldán, Stacey L Clardy
BACKGROUND: Opsoclonus-myoclonus syndrome is a rare clinical condition that has been associated with neuroblastoma. There are few reported cases of the presence of ANNA-1/anti-Hu antibodies in children with neuroblastoma and opsoclonus-myoclonus, all in children aged less than 3 years. METHODS: We report the new onset of focal seizures without alteration of consciousness and opsoclonus-myoclonus in an 11-year-old girl with ANNA-1/anti-Hu positivity and a paraspinal ganglioneuroblastoma...
September 2, 2016: Pediatric Neurology
Yudan Lv, Zan Wang, Fengna Chu, Chang Liu, Hongmei Meng
Epilepsia partialis continua (EPC) is a particular type of epilepsy which is distinguished from "common epilepsy" by its characteristic semiological features. However, unusual manifestations should be described in order to give awareness at clinical diagnosis. In this case report we describe a rare EPC case not previously reported, in which left shoulder joint-trunk-hip joint jerk was present for 1 week. Abnormal electroencephalogram and cerebrospinal fluid results supported a diagnosis of viral encephalitis...
2016: Neuropsychiatric Disease and Treatment
Chikako Kaneko, Norshalena Shakespear, Mario Tuchiya, Jin Kubo, Teiji Yamamoto, Soichi Katayama, Yukitoshi Takahashi
Five consecutive cases of anti-NMDA-receptor encephalitis that we encountered were marked by a rapidly fluctuating level of consciousness associated with psychotic and delirious mental states. Opisthotonus, catatonia, and rhythmic and non-rhythmic involuntary movements of the mouth and jaw were also characteristic features of these particular cases. Serious and potentially fatal problems included epilepsia partialis continua, partial and generalized seizures, and respiratory depression, resembling the symptoms of encephalitis lethargica...
September 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
Angela M Malek, Dulaney A Wilson, Gabriel U Martz, Braxton B Wannamaker, Janelle L Wagner, Gigi Smith, Jonathan C Edwards, Anbesaw W Selassie
PURPOSE: Incidence of status epilepticus (SE) ranges from 6.8 to 41.0 per 100,000 population. Although SE is associated with significant morbidity and mortality, the temporal relationship between SE, epilepsy, and mortality is less clear. The risk of all-cause mortality following SE with and without prior epilepsy was investigated. METHOD: This study identified hospitalizations and emergency department visits for persons with SE and persons with epilepsy between 2000 and 2013...
September 3, 2016: Seizure: the Journal of the British Epilepsy Association
Brian Appavu, Natalie Guido-Estrada, Kristin Lindstrom, Theresa Grebe, John F Kerrigan, Matthew Troester
TBC1D24 is a newly recognized gene in which variations lead to variable clinical phenotypes including drug-resistant epilepsy. We report four patients with novel variants of TBC1D24 demonstrating drug-resistant focal epilepsy, developmental delays, and head growth deceleration. All patients had seizure semiologies consisting of prolonged, unilateral, focal clonic activity of the arm, leg or face, in addition to generalized clonic or myoclonic seizures. Ictal EEG characteristics included epilepsia partialis continua, epilepsy of infancy with migrating focal seizures, and other focal seizures with indiscrete interictal-ictal transitions...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Kyoung Jin Hwang, SungSang Yoon, Key-Chung Park
Epilepsia partialis continua is a rare epileptic syndrome observed in patients with brain structural lesions and metabolic disorders. We report a patient with non-ketotic hyperglycaemia presenting as epilepsia partialis continua with reversible focal brain lesions. An 83-year-old woman visited our hospital due to sudden and repetitive left facial twitching lasting for two days. Initial laboratory data revealed serum glucose, osmolality, and sodium levels of 631 mg/dl, 310 mOsm/l, and 130 mEq/l, respectively...
June 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Bedia Samanci, Pınar Tektürk, Erdem Tüzün, Ece Erdağ, Demet Kınay, Zuhal Yapıcı, Betül Baykan
Rasmussen's encephalitis (RE) is a rare disease with unknown pathophysiology. To disclose whether anti-neuronal autoimmunity participates in the aetiology of RE, various neuronal autoantibodies (NAAbs) were investigated in sera of patients with RE and controls. The study included five patients who fulfilled the RE diagnostic criteria (clinical, EEG, and MRI findings) as the patient group, and 50 multiple sclerosis patients and 50 healthy subjects as the control groups. Sera were evaluated for various NAAbs by radioimmunoassay or cell-based assays...
June 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
O Hikmat, C Tzoulis, P M Knappskog, S Johansson, H Boman, P Sztromwasser, E Lien, E Brodtkorb, D Ghezzi, L A Bindoff
BACKGROUND AND PURPOSE: Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency that presents with progressive cerebellar ataxia, epilepsy, migraine and psychiatric disorders. Diagnosis is challenging due to the wide clinical spectrum and overlap with other mitochondrial disorders. METHODS: A detailed description of three new patients and one previously reported patient from three Norwegian families with novel and known ADCK3 mutations is provided focusing on the epileptic semiology and response to treatment...
July 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Megan Holec, Yasunori Nagahama, Christopher Kovach, Charuta Joshi
OBJECTIVE: We present a child with Rasmussen encephalitis and highlight the pitfalls of diagnosis when magnetic resonance imaging (MRI) is negative for atrophy. We review the literature regarding this issue, introduce the FreeSurfer software as a potential means of noninvasive diagnosis, and discuss methods for prompt and definitive treatment. METHODS: In addition to the patient description, we review the English language literature regarding pathologic diagnosis of Rasmussen encephalitis using the key words Rasmussen encephalitis, focal lesions, MRI, atrophy, epilepsia partialis continua and hemiparesis in PubMed...
June 2016: Pediatric Neurology
Luisa Santos Pereira, Vanessa Teixeira Müller, Marleide da Mota Gomes, Alexander Rotenberg, Felipe Fregni
Approximately one-third of patients with epilepsy remain with pharmacologically intractable seizures. An emerging therapeutic modality for seizure suppression is repetitive transcranial magnetic stimulation (rTMS). Despite being considered a safe technique, rTMS carries the risk of inducing seizures, among other milder adverse events, and thus, its safety in the population with epilepsy should be continuously assessed. We performed an updated systematic review on the safety and tolerability of rTMS in patients with epilepsy, similar to a previous report published in 2007 (Bae EH, Schrader LM, Machii K, Alonso-Alonso M, Riviello JJ, Pascual-Leone A, Rotenberg A...
April 2016: Epilepsy & Behavior: E&B
Ayşegül Gündüz, Meral E Kızıltan, Tülin Coşkun, Şakir Delil, Naz Yeni, Çiğdem Özkara
Rasmussen syndrome is a rare, inflammatory and probably autoimmune disease presenting with epilepsia partialis continua which is generally in the form of myoclonic jerks and involves the upper extremities with or without head involvement. We sought to demonstrate the electrophysiological features in patients with Rasmussen syndrome. We performed continuous electrophysiological recordings of involuntary movement, as well as recordings of startle responses and long latency reflex in three patients with a diagnosis of Rasmussen syndrome...
March 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Eliseu Paglioli, William Alves Martins, Walter De la Cruz, Victor Andrade, Vinicius Duval da Silva, Rafael Menezes Nunes, André Palmini
Epilepsia partialis continua is often refractory to antiepileptic medication and its causal relation to peripheral sensory stimuli has only rarely been suggested. We report a man who received surgery for temporal lobe epilepsy 10 years ago, who presented "de novo" epilepsia partialis continua following mild traumatic injury of the left hand. Continuous myoclonus of the left upper limb started the day after injury and persisted unabated for several weeks. Non-invasive evaluation was inconclusive. Acute electrocorticography during surgery under local anaesthesia revealed continuous, rhythmic spiking over the right sensorimotor cortex...
March 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Dimitrios Arkilo, Mary Gustafson, Frank J Ritter
OBJECTIVE: To review our clinical experience with intravenous (iv) lacosamide (LCM) in children less than 12 years old. BACKGROUND: Use of LCM to treat children with epilepsy has been supported by multiple studies with limited information on iv use in children. DESIGNS/METHODS: All children given iv LCM were identified from 2009 to 2015. Records were audited for demographics, seizure classification, etiology, EEG, imaging, indication. Baseline seizure frequency was based on parental reporting, continuous video EEG and direct observation...
March 2016: European Journal of Paediatric Neurology: EJPN
Daniel J Bonthius, Bahri Karacay
Alexander disease is a genetically induced leukodystrophy, due to dominant mutations in the glial fibrillary acidic protein (GFAP ) gene, causing dysfunction of astrocytes. We have identified a novel GFAP mutation, associated with a novel phenotype for Alexander disease. A boy with global developmental delay and hypertonia was found to have a leukodystrophy. Genetic analysis revealed a heterozygous point mutation in exon 6 of the GFAP gene. The guanine-to-adenine change causes substitution of the normal glutamic acid codon (GAG) with a mutant lysine codon (AAG) at position 312 (E312 K mutation)...
June 2016: Journal of Child Neurology
K Pradeep, S Sinha, A Mahadevan, J Saini, A Arivazhagan, R D Bharath, P S Bindu, R Jamuna, M B Rao, S Govekar, B V Ravikumar, B A Chandramouli, P Satishchandra
We studied the clinical, electrophysiological, imaging and pathological features of 18 patients with Rasmussen's encephalitis (RE). This descriptive study included 18 patients (six males, 12 females) with RE who were evaluated for demographic and phenotypic details, electroencephalogram (EEG) results, MRI results, pathological features, virological markers and outcome. Radiological staging as per Bien et al. and pathological staging in accordance with Robitaille et al. were performed. Simple partial seizures were the most common initial manifestation...
March 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Priyank Patel, Nirav Amin, Shreya B Patel, Catrin Morgan
In July 2014, a 66 year-old lady presented to emergency department after having not been seen for 3 days. She was eventually found in bed not responding verbally. The ambulance service reported tonic-clonic seizures lasting 10-30 s every 3 min. The patient was treated for her seizures with phenytoin and additional benzodiazepines as required. Her seizure had temporarily resolved and she was admitted for investigations. She had no history of epilepsy or seizures. The history of alcoholism and lack of any substantial history of epilepsy, left the team considering whether this was an alcohol induced event or a pseudoseizure...
September 2015: Annals of Medicine and Surgery
Ptolemaios G Sarrigiannis, Nigel Hoggard, Daniel Aeschlimann, David S Sanders, Richard A Grünewald, Zoe C Unwin, Marios Hadjivassiliou
BACKGROUND: Cortical myoclonus with ataxia has only rarely been reported in association with Coeliac Disease (CD). Such reports also suggested that it is unresponsive to gluten-free diet. We present detailed electro-clinical characteristics of a new syndrome of progressive cortical hyperexcitability with ataxia and refractory CD. At our gluten/neurology clinic we have assessed and regularly follow up over 600 patients with neurological manifestations due to gluten sensitivity. We have identified 9 patients with this syndrome...
2014: Cerebellum & Ataxias
Vipula R Bataduwaarachchi, Nirmali Tissera
INTRODUCTION: Tuberculosis is a progressive and disabling infection predominantly seen in low-income and middle-income countries. Immunocompromised patients are at a higher risk of contracting tuberculosis than the healthy population. The presentation may also be atypical, leading to delay in diagnosis. We report the first case of tuberculous cerebral vasculitis presenting with epilepsia partialis continua. CASE PRESENTATION: A 17-year-old adolescent boy of Sri Lankan Moor heritage was taking long-term immunosuppressants for nephrotic syndrome...
2015: Journal of Medical Case Reports
Kelly J Buerger, Kayleigh Zerr, Richard Salazar
A 74-year-old man presented with acute right-sided hemiparesis and epilepsia partialis continua in association with fever and confusion. Initial workup revealed possible cerebritis in the left medial frontal lobe without involvement of the temporal lobes. Cerebrospinal fluid (CSF) analysis revealed minimal lymphocytic pleocytosis but negative real-time herpes simplex virus (HSV) PCR. Acyclovir was discontinued on day 5 due to a negative infectious workup and clinical improvement. On day 9 his condition deteriorated and he was transferred to a higher level of acuity for advanced supportive care...
2015: BMJ Case Reports
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