Central Nervous System Vasculitis in Children

Çocukluk çağında santral sinir sistemi (SSS) vaskülitleri, SSS'de izole primer bir hastalık olabileceği gibi altta yatan sistemik hastalıklara sekonder olarak da ortaya çıkabilmektedir. Çocukluk çağı SSS vaskülitleri yakın zamanda tanımlanmış olup ciddi morbidite ve mortaliteye yol açabilmektedir. Primer SSS vaskülitlerinin iki tipi vardır. Bunlar orta ve büyük çaplı damarların tutulduğu anjiografi pozitif tip ve küçük damar tutulumunun olduğu anjiografi negatif tiptir. Birçok enfeksiyon ve sistemik enflamatuvar veya otoimmün hastalık sekonder SSS vaskülitine yol açabilmektedir. Primer ve sekonder SSS vaskülitlerinin klinik, radyolojik, prognoz ve tedavi yaklaşımları farklılık göstermektedir. SSS vasküliti olan çocuklarda erken tanı ve etkili tedavi ile morbidite ve mortalite önlenebilir. Central nervous system (CNS) vasculitis of childhood can occur as a primary disease limited to the CNS or as a secondary manifestation of an underlying systemic disorder. Central nervous system vasculitis in children is a newly recognized disease and can cause severe morbitidy and mortality. Two different subtypes of primary CNS vasculitis are defined: angiography-positive primary CNS vasculitis affecting large and medium-sized vessels, and angiography-negative primary CNS vasculitis affecting small-sized vessels. Many infections and systemic inflammatory or autoimmune diseases can cause secondary CNS vasculitis. Primary and secondary CNS vasculitis of childhood differ in clinical presentation, radiographic findings, prognosis, and treatment. Early recognition and effective treatment may prevent morbidity and mortality of childhood CNS vasculiti

Evaluation of plasma melatonin levels in children with afebrile and febrile seizures

BACKGROUND: Melatonin modulates central nervous system neuronal activity. We compared the melatonin levelsof patients with febrile and afebrile seizures during and after seizure with those of healthy controls. METHODS: Weenrolled 59 individuals with afebrile and febrile seizures (mean age, 6.09 4.46 years) and 28 age-, sex-, andweight-matched healthy children. Melatonin levels were measured near the time of a seizure (0 to 1 hour) and at12 and 24 hours post-seizure, and control melatonin levels were measured from a single venous blood sample.RESULTS: Plasma melatonin levels increased during seizures in the study group (P < 0.001). Post-seizure plasmamelatonin levels were significantly lower in the study group than in the control group (P < 0.05). Plasmamelatonin levels did not differ between patients with afebrile seizures who had and had not used antiepilepticdrugs. Daytime (8 AM to 8 PM) and nighttime (8 PM to 8 AM) post-seizure melatonin levels were not significantlydifferent. CONCLUSIONS: Melatonin levels were lower in pediatric patients prone to seizures than in healthy childrenand increased during seizures. Further research is needed to test the role of melatonin in the pathophysiologyand treatment of epilepsy

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice

A novel mutation in the sodium channel alpha 1 subunit gene in a child with Dravet syndrome in Turkey

Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel alpha 1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel alpha 1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24

Acquired epileptiform opercular syndrome: F-18 fluorodeoxyglucose positron emission tomography (FDG-PET) findings and efficacy of levetiracetam therapy

We report a five-year-old girl presenting with dysphagia, dysarthria, drooling, and generalized tonic convulsions in whom the final diagnosis was acquired epileptiform opercular syndrome. Levetiracetam monotherapy at a dosage of 40 mg/kg/day improved the clinical findings, and seizures were controlled at the end of the first month of treatment. Six months after the initial diagnosis, she presented with speech deterioration and dysarthria. At this time, although sleep and awake electroencephalography ( EEG) were normal, FDG-PET showed hypometabolic and hypermetabolic regions in the anterior/inferior and anterior regions of the right frontal lobe, respectively. By increasing before levetiracetam dosage to 50 mg/kg/day, the clinical findings resolved and the patient is still seizure free. Acquired epileptiform opercular syndrome is a rare epileptic disorder in which the seizures are resistant to conventional antiepileptic drugs. Levetiracetam may be an effective antiepileptic drug in controlling seizures and other clinical findings in acquired opercular epileptiform syndrome. Hypometabolic and hypermetabolic regions in FDG-PET study may be due to ongoing seizure activity or impaired glucose metabolism in this disorder. (c) 2012 Elsevier Inc. All rights reserved

Early life risk factors for asthma in school age children with grass pollen induced allergic rhinitis

Bu çalışma, 11-15, Haziran 2016 tarihlerinde Vienna[Avusturya]’da düzenlenen Meeting of the European-Academy-of-Allergy-and-Clinical-Immunology Kongresi‘nde bildiri olarak sunulmuştur.European Acad Allergy & Clin Immuno