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Autoimmune epilepsy in children

Margherita Nosadini, Shekeeb S Mohammad, Agnese Suppiej, Stefano Sartori, Russell C Dale
AIM: Intravenous immunoglobulin (IVIG) is an expensive therapy used in immunodeficiency and autoimmune disorders. Increasing demands and consequent shortages result in a need for usage to conform to guidelines. METHOD: We retrospectively evaluated IVIG use for neuroimmunological indications and adherence to existing guidelines in a major Australian paediatric hospital between 2000 and 2014. RESULTS: One-hundred and ninety-six children (96 male, 100 female; mean age at disease onset 6y 5mo [range 3mo-15y 10mo], mean age at first IVIG dose 7y 2mo [range 3mo-16y 5mo]) received IVIG for neuroimmunological indications during the study period (28...
May 31, 2016: Developmental Medicine and Child Neurology
Sarosh R Irani, Angela Vincent
Voltage-gated potassium channel (VGKC)-complex antibodies are defined by the radioimmunoprecipitation of Kv1 potassium channel subunits from brain tissue extracts and were initially discovered in patients with peripheral nerve hyperexcitability (PNH). Subsequently, they were found in patients with PNH plus psychosis, insomnia, and dysautonomia, collectively termed Morvan's syndrome (MoS), and in a limbic encephalopathy (LE) with prominent amnesia and frequent seizures. Most recently, they have been described in patients with pure epilepsies, especially in patients with the novel and distinctive semiology termed faciobrachial dystonic seizures (FBDS)...
2016: Handbook of Clinical Neurology
V T Ramaekers, J M Sequeira, E V Quadros
Multiple factors such as genetic and extraneous causes (drugs, toxins, adverse psychological events) contribute to neuro-psychiatric conditions. In a subgroup of these disorders, systemic folate deficiency has been associated with macrocytic anemia and neuropsychiatric phenotypes. In some of these, despite normal systemic levels, folate transport to the brain is impaired in the so-called cerebral folate deficiency (CFD) syndromes presenting as developmental and psychiatric disorders. These include infantile-onset CFD syndrome, infantile autism with or without neurologic deficits, a spastic-ataxic syndrome and intractable epilepsy in young children expanding to refractory schizophrenia in adolescents, and finally treatment-resistant major depression in adults...
July 2016: Biochimie
András Horváth, Anikó Papp, Anna Szűcs
Nonrapid eye movement (NREM) or arousal parasomnias are prevalent conditions in children and young adults, apparently provoked by any medical, physical, mental, or pharmacologic/toxic agent disturbing normal biorhythm and causing sleep fragmentation or abundant amount of slow wave sleep. The nadir and the ascending slope of the first sleep cycle of night sleep are the typical periods when NREM parasomnias, especially sleepwalking may occur on sleep-microstructural level; microarousals are the typical moments allowing NREM parasomnias...
2016: Nature and Science of Sleep
Sukhvir Wright, Angela Vincent
PURPOSE OF REVIEW: Autoimmune epileptic encephalopathy is a potentially treatable neurological syndrome characterized by the coexistence of a neuronal antibody in serum and, often, cerebrospinal fluid. Patients present with combinations of seizures, neuropsychiatric features, movement disorder, and cognitive decline, but some patients have isolated seizures either at first presentation or during their illness. This review summarizes our current understanding of the roles of specific neuronal antibodies in epilepsy-related syndromes and aims to aid the clinician in diagnosis and treatment...
April 2016: Current Opinion in Neurology
Marianna S Rivas-Coppola, Namrata Shah, Asim F Choudhri, Robin Morgan, James W Wheless
OBJECTIVE: To describe and analyze the chronological evolution of the radiological findings in seven children with febrile infection-related epilepsy syndrome. METHODS: This is a retrospective study describing the radiological findings and evolution in seven children with febrile infection-related epilepsy syndrome who presented from 2009 to 2013. The children all fit the defined clinical criteria for febrile infection-related epilepsy syndrome; all had a history of normal psychomotor development who presented with acute-onset catastrophic partial status epilepticus associated with a febrile illness or unspecific infectious process...
February 2016: Pediatric Neurology
T W Yew, L McCreight, K Colclough, S Ellard, E R Pearson
BACKGROUND: A syndrome of young-onset diabetes mellitus associated with microcephaly, epilepsy and intellectual disability caused by mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene has recently been described. CASE REPORT: We report two siblings from the fourth family reported to have diabetes mellitus as a result of a TRMT10A mutation. A homozygous nonsense mutation p.Glu27Ter in TRMT10A was identified using targeted next-generation sequencing and confirmed by PCR/Sanger sequencing...
September 2016: Diabetic Medicine: a Journal of the British Diabetic Association
R Ts Bembeeva, N N Zavadenko
Though the mechanisms of action of intravenous immunoglobulins (IVIG) are not completely understood, these drugs are widely used in treatment of autoimmune diseases. In this review, we have analyzed the literature on the use of IVIG in the treatment of autoimmune diseases of the nervous system in children and discuss the management of patients basing on the recommendation of the European Federation of Neurological Societies. The efficacy of IVIG in children has been shown as first line treatment in Guillain-Barre syndrome, chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathy, dermatomyositis as a second-line drug in the combination with prednisolone or immunosuppressors in patients refractory to treatment with corticosteroids and cytostatics, myasthenic crisis in myasthenia gravis, exacerbations and short-term treatment of severe forms, non-responsiveness to acetylcholinesterase inhibitors, multiple sclerosis as second or third line of treatment in patients with relapsing-remitting course with intolerance to standard immunomodulatory therapy, acute multiple encephalomyelitis with no response to the treatment with high doses of corticosteroids, paraneoplastic syndromes, pharmacoresistant epilepsy and autoimmune encephalitis...
2015: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Saloua Mrabet, Nedia Ben Achour, Ichraf Kraoua, Hanène Benrhouma, Hedia Klaa, Aida Rouissi, Malika Ben Ahmed, Ilhem Ben Youssef Turki
BACKGROUND: Anti-Ma2-associated encephalitis is a rare paraneoplastic neurological syndrome characterized by isolated or combined limbic, diencephalic, or brainstem dysfunction. It is rarely reported in children. CASE STUDY: We describe the clinical data of a 2-year-old girl referred to our department for refractory focal seizures associated with fever, followed by behavioural changes, speech disturbances and confusional episodes. Brain magnetic resonance imaging (MRI) showed left temporoparietal brain involvement...
November 2015: European Journal of Paediatric Neurology: EJPN
Miguel Tomás-Vila
INTRODUCTION: Psychotic manifestations in childhood are not infrequent, yet the existing literature dealing with the neurological appraisal of children and adolescents with a clinical picture of psychosis is very scant. AIM: To conduct a non-systematic review of the literature that provides an answer to these three questions: When must a neurological appraisal be performed in a child with psychotic traits? What medical conditions can include signs and symptoms of psychosis in their development? And, what diagnostic procedure should be followed? DEVELOPMENT: The diseases that can present psychotic symptoms at onset or during their course are reviewed and grouped by pathologies: inborn errors of metabolism, genetic diseases, autoimmune and infectious diseases, malformations of the central nervous system, epilepsy, vascular pathology, rheumatologic processes, brain tumours, and psychoactive substances and drugs...
May 1, 2015: Revista de Neurologia
Lien De Somer, Marie-Anne Morren, P C E Hissink Muller, Karine Despontin, Katrien Jansen, Lieven Lagae, Carine Wouters
UNLABELLED: Linear scleroderma en coup the sabre (LSCS), progressive facial hemiatrophy (PFH) and autoimmune encephalitis are distinct clinical entities, although patients with overlapping features have been reported. We performed a multicenter retrospective review of a series of children with LSCS and/or PFH to explore the relation between these entities. The files of 16 children were reviewed, 11 presented with LSCS, 5 with PFH, with time overlapping cutaneous features were seen. Extracutaneous signs were found in both groups...
September 2015: European Journal of Pediatrics
Ignacio Valencia
Autoimmunity and inflammation have been implicated as causative factors of seizures and epilepsy. Autoimmune disorders can affect the central nervous system as an isolated syndrome or be part of a systemic disease. Examples of systemic autoimmune disorders include systemic lupus erythematosus, antiphospholipid syndrome, rheumatic arthritis, and Sjögren syndrome. Overall, there is a 5-fold increased risk of seizures and epilepsy in children with systemic autoimmune disorders. Various etiologic factors have been implicated in causing the seizures in these patients, including direct inflammation, effect on blood vessels (vasculitis), and production of autoantibodies...
September 2014: Seminars in Pediatric Neurology
Jehan Suleiman, Russell C Dale
There is emerging interest in autoimmune epilepsy, which represents a small but potentially treatable form of epilepsy. Most insights into autoimmune epilepsy derive from the recent descriptions of autoimmune encephalitis that takes two general forms: a focal encephalitis (such as limbic) or a diffuse encephalitis (such as anti-N-methyl-D-aspartate receptor [NMDAR] encephalitis). The features of autoimmune epilepsy include acute or subacute onset of seizures, usually in the context of encephalopathy, and inflammation of the central nervous system on testing cerebrospinal fluid or magnetic resonance imaging...
May 2015: Developmental Medicine and Child Neurology
Bernd A Neubauer, Andreas Hahn
Status epilepticus (SE) is a medical emergency with increased risk of morbidity and mortality in all age groups. Recent research has identified a variety of new genes implicated in disorders with severe epilepsies as a prominent feature. Autoimmune mechanisms have also been recently recognised as a cause of epilepsies with SE as a characteristic symptom. Knowledge about the aetiology potentially underlying SE may help to guide diagnostics and eventually influence treatment decisions. This review recapitulates, in brief, the risk of SE in specific clinical settings, provides an overview of paediatric epilepsy syndromes more commonly, or by definition, associated with SE, and summarizes some recent research data on genetic defects and disease mechanisms implicated in the pathogenesis of epilepsies frequently accompanied by SE...
October 2014: Epileptic Disorders: International Epilepsy Journal with Videotape
Eva Wuerfel, Christian G Bien, Angela Vincent, Mark Woodhall, Knut Brockmann
A wide range of clinical presentations including neuromuscular disorders and autoimmune encephalopathies is being recognized to be associated with various autoantibodies. Glycine receptor (GlyR) antibodies have so far been found mainly in adult patients with phenotypes comprising progressive encephalomyelitis with rigidity and myoclonus or stiff-person syndrome. We report a four-year-old boy who presented with a two-year-history of drug-resistant focal epilepsy with unusual seizure semiology, temper tantrums, headache, clumsiness, and intermittently impaired speech...
August 15, 2014: Journal of the Neurological Sciences
Piero Perucca, Peter Camfield, Carol Camfield
Gender differences in the incidence and clinical course of acquired and "cryptogenic" epilepsy are reviewed based on a literature search. We emphasized incidence and population-based studies because they are best suited to assess the effect of gender on susceptibility and clinical evolution of these epilepsies and may control for potential confounding factors. However, such studies were only available for a few acquired etiologies. These included tumor, prenatal and perinatal brain insults, cerebrovascular disease, infection, trauma, neurodegenerative disease, and autoimmune disorders...
December 2014: Neurobiology of Disease
Mei-Sing Ong, Isaac S Kohane, Tianxi Cai, Mark P Gorman, Kenneth D Mandl
IMPORTANCE: Epilepsy is a debilitating condition, often with neither a known etiology nor an effective treatment. Autoimmune mechanisms have been increasingly identified. OBJECTIVE: To conduct a population-level study investigating the relationship between epilepsy and several common autoimmune diseases. DESIGN, SETTING, AND PARTICIPANTS: A retrospective population-based study using claims from a nationwide employer-provided health insurance plan in the United States...
May 2014: JAMA Neurology
Alper I Dai, Aylin Akcali, Celal Varan, Abdullah T Demiryürek
PURPOSE: Celiac disease (CD) is a chronic, inflammatory autoimmune disorder caused by intolerance to ingested gluten. Increased frequency of CD has been reported in occipital lobe epilepsy. The aim of the present study is to investigate the frequency of CD among children followed up due to epilepsy and diagnosed with epileptic activity in the occipital lobe in at least one electroencephalography (EEG) test. METHODS: For this research, 90 pediatric epilepsy patients with epileptic activity in the occipital lobe were enrolled in the study group, while the control group comprised of 100 healthy children...
June 2014: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Russell C Dale
Autoimmune and inflammatory brain disease constitute a significant proportion of acute neurological presentations in children, and untreated these disorders can result in neurological disability. New autoantibodies are improving the awareness of these treatable autoimmune CNS disorders. A recent paradigm in the autoantibody field is that autoantibodies that are 'disease-causing' or 'disease-contributing' bind to the extracellular domain of receptors, channels or proteins essential for neurotransmission or cell function...
February 2014: Pathology
Russell C Dale
Autoimmune and inflammatory brain disease constitute a significant proportion of acute neurological presentations in children, and untreated these disorders can result in neurological disability. New autoantibodies are improving the awareness of these treatable autoimmune CNS disorders. A recent paradigm in the autoantibody field is that autoantibodies that are 'disease-causing' or 'disease-contributing' bind to the extracellular domain of receptors, channels or proteins essential for neurotransmission or cell function...
February 2014: Pathology
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