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Sofou Kalliopi - - 2014
Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural history data is missing. This study was undertaken to assess the phenotypic and genotypic ...
Jhang Kai-Ming - - 2014
Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history ...
Zempel John M JM From the Department of Neurology and Pediatrics (J.M.Z.), Washington University School of Medicine, St. Louis, MO; and Gifu University of Medical Science (T.M.), Seki, Gifu, - - 2014
Myoclonic atonic/astatic epilepsy (MAE), first described well by Doose(1) (pronounced dough sah: http://www.youtube.com/watch?v=hNNiWXV2wF0), is a generalized electroclinical syndrome with early onset characterized by myoclonic, atonic/astatic, generalized tonic-clonic, and absence seizures (but not tonic seizures) in association with generalized spike-wave (GSW) discharges. Thought to have a genetic component that has proven ...
Cheung K M KM Department of Paediatrics, Caritas Medical Centre, Shamshuipo, Hong - - 2014
A macrocephalic girl presented with generalised epilepsy due to focal cortical dysplasia. She later developed multiple hamartomatous lesions and was diagnosed to have Cowden syndrome. The diagnosis was confirmed by identification of a novel frameshift mutation in the PTEN gene of the patient.
Liu Sheng-da SD Department of Hyperbaric Oxygen, Beijing Aerospace General Hospital, Beijing 100076, - - 2014
REVERSIBLE posterior leukoencephalopathy syn- drome (RPLS) is a rare neurological syndrome charac- terized by headache, altered mental status, seizures, and visual disturbance, associated with reversible white matter changes.1 It has been commonly reported in patients with severe hypertension and pre-eclampsia. Here we report a case with nephrotic syndrome complicated by ...
Zoric Lepsa - - 2014
Septo-optic dysplasia, also referred to as de Morsier syndrome, is a congenital condition characterized by classic triad features: midline brain abnormalities, optic nerve hypoplasia and pituitary endocrine dysfunction. Sometimes, other various malformations appear within syndrome. An 11 and 1/2-year-old Caucasian Southeast European female patient with earlier established diagnoses of growth ...
Bebek Nerses N Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, - - 2014
The purpose was to document 4 patients with different epilepsy syndromes, showing electrical status epilepticus during sleep (ESES), without marked cognitive and behavioral regression in the long-term follow-up. The mean age at onset of seizures was 8 years. Absences, myoclonic, focal motor, or generalized tonic - clonic seizures and drop ...
Pardo Carlos A CA Department of Neurology, Division of Neuroimmunology and Neuroinfectious Disorders, Center for Pediatric Rasmussen Syndrome, Johns Hopkins University School of Medicine, Baltimore, MD, USA, - - 2014
The mechanisms of epileptogenesis in pediatric epileptic syndromes are diverse, and may involve disturbances of neurodevelopmental trajectories, synaptic homeostasis, and cortical connectivity, which may occur during brain development, early infancy, or childhood. Although genetic or structural/metabolic factors are frequently associated with age-specific epileptic syndromes, such as infantile spasms and West ...
Lechien J R JR Department of Anatomy, Faculty of Medicine, University of Mons, Avenue du Champ de Mars, 6, 7000 Mons, Belgium. Electronic address: - - 2014
Li-Fraumeni syndrome is a rare autosomal dominant cancer-prone condition characterized by the occurrence of a large set of different types of cancer in a patient and their family. A germline disease-causing mutation of the gene encoding the p53 protein is associated with the syndrome. We report on a family in ...
Shetty Jayakara J Tayside Children's Hospital, NHS Tayside, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK. Electronic address: - - 2014
Aicardi syndrome (AS) is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Most patients with AS also have intractable epilepsy, moderate to severe learning disability, and a reduced life expectancy. An X-linked dominant inheritance caused by de novo mutations pattern, lethal ...
Shingade Pravin U PU Department of Medicine, Government Medical College and Hospital, Nagpur, - - 2014
Acute generalized exanthematous pustulosis (AGEP) is a rare drug induced cutaneous hypersensitivity reaction characterized by sudden onset of fever with sterile pustules overlying an erythematous skin occurring all over the body. The offending drugs are usually B-lactams and macrolides. Among anticonvulsants carbamazepine and Phenobarbital are commonly associated with AGEP. Only ...
Hegde Manu M UCSF Epilepsy Center, Department of Neurology, University of California, San Francisco, 521 Parnassus Avenue C-440, San Francisco, CA 94143-0138, - - 2014
Few would experience greater benefit from the development of biomarkers than those who suffer from epilepsy. Both the timing of individual seizures and the overall course of the disease are highly unpredictable, and the associated morbidity is considerable. Thus, there is an urgent need to develop biomarkers that can predict ...
Sommeling Charlotte C 1Department of Neurology, Ghent University Hospital, Ghent, - - 2014
We present a case of a 16-year-old boy with Klinefelter syndrome who presented with a syndrome of impaired alertness, orofacial dyskinesias, choreiform movements, epileptic seizures, and autonomic instability, pointing to a diagnosis of anti-N-methyl-Daspartate (anti-NMDA) receptor antibody encephalitis.
Jain Puneet P 1Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, - - 2014
Absence seizures associated with myoclonic phenomena have been associated with 4 seizure types. Recently, a new seizure type of neck myoclonia with absences was described. We present a case of 9-year-old girl who presented with abnormal head shaking and vacant stare for the past 5 months with an ictal electroencephalograph ...
Zanni Ginevra G Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: - - 2014
Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia. In a 7-year-old boy ...
Gaggero Roberto R Pediatric Unit, San Paolo Hospital, Savona, - - 2014
To evaluate the possibility of early syndrome classification of idiopathic partial epilepsies in children at the first seizure. In this observational study we prospectively evaluated 298 patients, aged between 1 month and 17 years and consecutively referred for the first unprovoked focal seizure. The whole cohort included 133 patients; the ...
Fernández-Torre José L JL Department of Clinical Neurophysiology, Marqués de Valdecilla University Hospital, Santander, Cantabria, Spain; Department of Physiology and Pharmacology, University of Cantabria (UNICAN), Santander, Cantabria, Spain; Instituto de Formación e Investigación Marqués de Valdecilla (IFIMAV), Santander, Spain. Electronic address: - - 2014
The aim of this paper is to describe two additional cases of subacute encephalopathy with seizures in alcoholics (SESA syndrome), and to propose that this entity now should be considered as a subtype of nonconvulsive status epilepticus (NCSE). We retrospectively analyzed the clinical characteristics, electroencephalography (EEG), neuroimaging data, and prognosis ...
Conant Kerry D KD Pediatric Epilepsy Program, Massachusetts General Hospital, Boston, Massachusetts, - - 2014
Seizures are common in individuals with duplications of chromosome 15q11.2-q13 (Dup15q). The goal of this study was to examine the phenotypes and treatments of seizures in Dup15q in a large population. A detailed electronic survey was conducted through the Dup15q Alliance containing comprehensive questions regarding seizures and their treatments in ...
Sarasua Sara M SM Office of Bioinformatics and Epidemiology, Greenwood Genetic Center, 101 Gregor Mendel Circle, Greenwood, SC, 29646, USA, - - 2014
This study is the first to describe age-related changes in a large cohort of patients with Phelan-McDermid syndrome (PMS), also known as 22q13 deletion syndrome. Over a follow-up period of up to 12 years, physical examinations and structured interviews were conducted for 201 individuals diagnosed with PMS, 120 patients had a ...
Mastrangelo Mario M Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, "Sapienza" University of Rome, Via dei Sabelli 108, 00184, Rome, Italy, - - 2014
Febrile seizures (FS) are a benign epileptic manifestation of infancy occurring between 3 months and 5 years of age and affecting an estimated 2-5 % of children. They have usually no important negative effects on motor and cognitive development. Simple FS (generalized seizures, lasting less than 10 min and single episodes during the same ...
Ngim Chin Fang CF Department of Paediatrics, School of Medicine and Health Sciences, Monash University, Johor Bahru, 80100 Johor, - - 2014
A rare syndrome of hypertension, seizures and intracranial bleed has been reported among patients with congenital hemolytic anemia who underwent multiple blood transfusions. We report this syndrome in a 12-year-old Malay girl with hemoglobin E-beta-thalassemia, who underwent intensive transfusion and subsequently had headache, visual loss, severe hypertension and seizures. A ...
Pavlidis Elena E Child Neuropsychiatry Unit, Department of Neuroscience, University of Parma, Parma, Italy. Electronic address: - - 2014
Introduction: Cornelia de Lange syndrome is a rare genetic disease, caused by mutations in three known different genes: NIBPL (crom 5p), SMC1A (crom X) and SMC3 (crom 10q), that account for about 65% of cases. This syndrome is characterized by distinctive facial features, psychomotor delay, growth retardation since the prenatal ...
Miteff Christina I CI 1John Hunter Children's Hospital, New Lambton Heights, New South Wales, - - 2014
We describe a patient with hemiconvulsion-hemiplegia-epilepsy syndrome. The pathophysiology of hemiconvulsion-hemiplegia-epilepsy syndrome remains uncertain and there are probably multiple potential contributing factors. Our patient had a chromosomal 16p13.11 microdeletion that confers susceptibility to various types of epilepsy. This is the first report detailing an association of hemiconvulsion-hemiplegia-epilepsy syndrome with a ...
Bevinetto Cara M CM Department of Anesthesiology, University of Alabama School of Medicine, Birmingham, AL 35294, - - 2014
Angelman syndrome arises by one of 4 genetic mechanisms. Patients often have craniofacial abnormalities, vagal hypertonia, skeletal muscle atrophy or underdevelopment, a history of seizure disorders, and pharmacodynamic unpredictability. Its pathogenesis, clinical manifestations, diagnosis and treatment options, and perioperative anesthetic considerations are presented.
Agha Zehra Z Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud university medical center, Nijmegen, the - - 2014
We report a consanguineous Pakistani family with a severe congenital microcephaly syndrome resembling Seckel syndrome and Jawad syndrome. The affected individuals in this family were born to consanguineous parents of whom the mother presented with mild intellectual disability (ID), epilepsy and diabetes mellitus. The two living affected brothers presented with ...
Algahtani Hussein A HA College of Medicine, King Saud bin Abdulaziz University for Health Sciences, PO Box 12723, Jeddah 21483, Kingdom of Saudi Arabia. Tel. +966 (12) 6240000 Ext. 24358. Fax. +966 (12) 6240000 Ext. 22765. E-mail: - - 2014
Dyke Davidoff Masson syndrome (DDMS) refers to atrophy or hypoplasia of one cerebral hemisphere following a prior fetal or childhood insult. It has characteristics of clinical and radiological changes. These changes include hemiparesis, seizures, facial-asymmetry, and mental retardation. We present a 25-year-old man with crossed cerebrocerebellar atrophy and DDMS. His ...
Rijal Jharendra P JP Division of Hospital Medicine, Miriam Hospital, Providence, Rhode Island, - - 2014
Posterior reversible encephalopathy syndrome (PRES) is a reversible neurological entity characterised by seizure, headaches, visual symptoms, impaired consciousness and other focal neurological findings. It is caused by a wide variety of causes ultimately leading to a vasogenic cerebral oedema of occipital and parietal lobes of the brain. We present here ...
Kim June-Bum JB Department of Pediatrics, Seoul Children's Hospital, Seoul, - - 2014
Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), ...
Gera D N DN Department of Nephrology and Clinical Transplantation, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Ahmedabad, - - 2014
Posterior reversible encephalopathy syndrome (PRES) is a clinic-radiographic entity of heterogeneous etiologies that are grouped together because of similar findings on neuro-imaging and associated symptom complex of headache, vision loss, altered mentation, and seizures. Although usually considered benign and reversible, characteristics of this syndrome in pediatric patients remain obscure. This ...
Ural Ulkü Mete UM Department of Obstetrics & Gynecology, Recep Tayyip Erdoğan University School of Medicine, İslampaşa Mahallesi, 53100 Rize, - - 2014
Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological entity presenting with headache, confusion, visual disturbances or blindness, and seizures. Parieto-occipital white matter changes due to vasogenic oedema can be observed on imaging modalities. It rarely occurs without seizures and after delivery. We report a 33-year-old multigravida with a history of ...
Verma Rajesh R King George Medical University, Lucknow, Uttar Pradesh, - - 2014
Neuroleptic malignant syndrome (NMS) can be caused by various drugs. We report a case of a 60-year-old woman who presented with high-grade fever, muscular rigidity, tachycardia, tachypnoea and altered sensorium along with seizures. She had been taking olanzapine for the past 2 years for psychosis. For the last month valproate ...
Bhat Ramesh Y RY Department of Paediatrics, Kasturba Medical College, Manipal, Karnataka, - - 2014
Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome involves initial sudden and prolonged unilateral convulsive seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Seizures are prolonged, difficult to control and sometimes may require surgery. Hemiplegia varies in intensity, differs from Todd paralysis and disappears in about 20% of cases. ...
Bilo Leonilda L 0000-0002-9817-4193 Epilepsy Center, Department of Neuroscience, School of Medicine, Federico II University of Naples, 80131 Naples, - - 2014
The authors review the literature for cases fulfilling the criteria for the proposed idiopathic generalized epilepsy syndrome (IGE) of absence status epilepsy described by Genton et al. (2008). Difficulties arising in diagnosing such cases are remarked, and possible overlapping with other proposed IGE syndromes is discussed.
Chiyonobu Tomohiro T Department of Pediatrics, Kyoto Prefectural University of Medicine, Kamigyo, Kyoto, - - 2013
Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors 150 or more kinds of proteins to the human cell surface. There are at least 26 genes involved in the biosynthesis and remodelling of GPI anchored proteins (GPI-APs). Recently, inherited GPI deficiencies (IGDs) were reported which cause intellectual disability often accompanied by epilepsy, ...
Au P Y Billie PY Department of Medical Genetics, University of Calgary, Calgary, Alberta, - - 2013
A clinically recognizable syndrome associated with 1q41q42 microdeletion has recently been described in the literature (OMIM 612530). Patients with microdeletions in this region of chromosome 1 typically have developmental delay, characteristic dysmorphic features, and a predisposition to seizures. Malformations such as congenital diaphragmatic hernia and cleft lip have also been ...
Porto Fábio Henrique de Gobbi FH Behavioral and Cognitive Neurology Unit, Department of Neurology, Cognitive Disorders Reference Center (CEREDIC), University of São Paulo, São Paulo, SP, Brazil. Electronic address: - - 2013
The spectrum of paraneoplastic neurologic syndromes has increased with the description of encephalitis associated with antibodies against cell surface and synaptic proteins. Subacute cognitive impairment, movement disorders, late onset epilepsy and neuropsychiatric syndromes were recently linked to paraneoplastic encephalitis. Despite that, probably some syndromes and antibodies are yet to be ...
Giordano Lucio L Pediatric Neuropsychiatric Division, Spedali Civili, Brescia, - - 2013
Focal facial dermal dysplasias are a group of inherited ectodermal disorders characterized by congenital bitemporal or periauricular scar-like depressions as well as other facial and nonfacial developmental defects. Four subtypes have been delineated, and mutations in the TWIST2 gene have been identified in type III focal facial dermal dysplasia (Setleis ...
Ramanathan Sudarshini S Department of Neurology, Westmead Hospital, Westmead, NSW 2145, Australia; Westmead Clinical School, University of Sydney, Sydney, NSW, - - 2013
We report a series of patients with a clinical syndrome characterised by the explosive onset in adulthood of recurrent focal seizures of frontotemporal onset and features suggestive of autoimmune encephalitis. We propose that this presentation of "autoimmune adult onset focal epilepsy and encephalitis" is a recognisable clinical syndrome, and provide ...
Serino Domenico D Neurology Unit, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: - - 2013
Hemiconvulsion-Hemiplegia (HH) syndrome represents an uncommon consequence of prolonged unilateral clonic or hemiconvulsive status epilepticus in childhood, usually occurring during a febrile illness, followed by ipsilateral hemiplegia. The subsequent appearance of focal seizures configures the so called Hemiconvulsion-Hemiplegia-Epilepsy (HHE) syndrome. The pathogenesis of HH/HHE syndrome is still unclear. We describe ...
Krajnc Natalija - - 2013
Rett syndrome is a neurodevelopmental disorder that manifests itself early in childhood, progresses with the evolution of characteristic clinical signs and symptoms and is confirmed by mutation in the methyl-CpG-binding protein 2 gene. Seizures are present in a majority of Rett patients. Respiratory dysrhythmia in the awake state is present ...
Mondel Prabath Kumar - - 2013
Cerebral hyperperfusion syndrome (CHS) describes a syndrome of sudden onset focal neurological features, unilateral headache, and systemic hypertension. Recurrent CHS in the same patient has not been described to date. We describe a 55-year-old woman who first developed CHS post intracranial stenting with sudden-onset right focal seizures and associated acute ...
Cullu Nesat N Department of Radiology, Faculty of Medicine, Mugla Sitki Kocman University, - - 2013
Moyamoya disease is a cerebrovasculopathy of unknown etiology during the course of which the main and terminal veins of the internal carotid artery undergo progressive vein occlusion. Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency" characterized by psychomotor retardation, difficulty in eating, seizures, hypotonia, ...
Lee Kyung Yeon KY Department of Pediatrics, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, - - 2013
Down syndrome, the most common chromosomal abnormality, may be associated with various neurologic complications such as moyamoya syndrome, cervical spinal cord compression due to atlantoaxial subluxation, and basal ganglia damage, as well as epileptic seizures and stroke. Many cases of Down syndrome accompanied by isolated neurologic manifestations have been reported ...
Kapina Viktoria V Department of - - 2013
Chronic epilepsy has rarely been reported after posterior reversible encephalopathy syndrome (PRES) and the association with hippocampal sclerosis has been suggested only once before. We report the case of a girl admitted at the age of 8 years with idiopathic nephrotic syndrome. On the second day of admission, she presented ...
Inoue Takeshi - - 2013
Perinatal hypoxic-ischemic encephalopathy (HIE) has been linked to the development of late-onset seizures. The aim of the present study was to determine the incidence of epilepsy and West syndrome in children with perinatal HIE and identify factors associated with the development of postnatal seizure disorders. We retrospectively enrolled 208 term ...
Gras D - - 2013
Glucose transporter type 1 deficiency syndrome is caused by heterozygous, mostly de novo, mutations in the SLC2A1 gene encoding the glucose transporter GLUT1. Mutations in this gene limit brain glucose availability and lead to cerebral energy deficiency. The phenotype is characterized by the variable association of mental retardation, acquired microcephaly, ...
Pavone Piero - - 2013
The current spectrum of disorders associated to clinical spasms with onset in infancy is wider than previously thought; accordingly, its terminology has changed. Nowadays, the term Infantile spasms syndrome (ISs) defines an epileptic syndrome occurring in children younger than 1year (rarely older than 2years), with clinical (epileptic: i.e., associated to ...
Yoo Ji Yeoun - - 2013
IMPORTANCE Limbic encephalitis that is associated with anti-voltage-gated potassium channel complex (VGKCC) antibodies (VGKCC syndrome) is an autoimmune, usually nonparaneoplastic form of encephalitis that is responsive to immunotherapy. Differentiating this treatable disease from others that have a similar presentation is thus important. OBSERVATIONS We present the case of a 58-year-old ...
Gupta Rekha - - 2013
Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. Exact pathogenesis is not clear. Here we are describing a 3-year-old girl with HHE syndrome with cytogenetic microarray (CMA) showing deletion of 1.8 Mb in 1q44 region. Along with HHE syndrome, the ...
So Norman K - - 2013
The education of neurologists on the syndrome of juvenile myoclonic epilepsy (JME) has been one of the major successes in the treatment of epilepsy. For a long time, the original author to whom this condition is eponymously linked, as well as other experts, conceived of JME as a lifelong condition ...
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