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The aim of this study was to evaluate the clinical characteristics, risk factors, treatment, and outcomes of pediatric stroke cases. A total of 118 patients diagnosed with arterial ischemic stroke (AIS), hemorrhagic stroke, and sinovenous thrombosis (SVT) between January 2000 and December 2011 were included. Neonatal cases were excluded. Demographic and clinical findings were retrospectively examined from medical records. We identified 118 patients with stroke. The age of the patients ranged from 1 to 215 months (17.92 y), with a mean age of 5.19±5.25 years. AIS accounted for the majority of cases (n=69, 58.5%), and the major etiology was cardiac disease (17%). Hemorrhagic stroke accounted for 19.5% (n=23) of the cases, and late hemorrhagic disease of the newborn was the major etiology (43%, n=10). SVT accounted for 22% (n=26) of the cases, and the major etiology was otitis media-mastoiditis (27%, n=7). Hemiplegia and headache were the most frequent symptoms for AIS and SVT, respectively. Stroke is rare in children compared with adults; however, it is detected more frequently with better imaging techniques and increased awareness. We found that children with AIS presented more commonly with hemiplegia and children with SVT with headache and strabismus. We did not find an association between thrombophilia and stroke.

Purpose The exact etiology of febrile seizures (FS) is still unclear. However, it is thought that cytokine network activation may have a causative role. Therefore, this study aimed to evaluate the levels of interleukin-12 (IL-12) as a proinflammatory cytokine, interleukin-10 (IL-10) as an anti-inflammatory cytokine, and interferon-β (IFN-β), a marker of toll-like receptor-3 activation as a host response to viruses. These cytokine levels were analyzed in the cerebrospinal fluid (CSF) of children after a FS. Methods With the approval of the Human Research Ethics Committee, 76 patients with FS, who underwent lumbar puncture (LP) for the exclusion of central nervous system (CNS) infection, and who didn’t have CSF pleocytosis, were included in the study. The control group consisted of 10 patients with similar ages, with an acute febrile illness and who required LP to exclude CNS infection. The analyses were made by the enzyme-linked immunoassay method. Results Age, gender distribution and CSF IL-12 and IFN- β levels did not differ, but CSF IL-10 levels were significantly lower in the FS group as compared to the control group (0.78 ± 4.5 pg/ml, versus 27 ± 29 pg/ml, p Conclusion The low-level of CSF IL-10, considering its anti-inflammatory properties, may play a role in the etiopathogenesis of FS.

Background Weight gain is an important adverse effect of valproate (VPA) therapy. A number of mechanisms have been proposed for its pathophysiology. The aim of the present study is the evaluation of insulin, leptin and lipid levels in epileptic children on treatment with VPA. Methods Thirty epileptic children treated with VPA, and 20 age-sex-matched healthy children, were enrolled in this study. Blood samples were taken and the body mass index was calculated for all of the subjects. Serum insulin, leptin, and lipid levels were compared between the two groups. Results Leptin levels were significantly higher in the patient group (P = 0.009) whereas body mass index values were comparable. There was a positive correlation between leptin and body mass index among both patient (r = 0.464, P = 0.01) and control groups (r = 0.734, P = 0.0001). Total cholesterol and low-density lipoprotein (LDL) cholesterol levels were lower in VPA-treated epileptic children than the control group (P = 0.008; P = 0.003, respectively). No significant difference was determined in insulin levels between the two groups. A negative correlation was observed between plasma VPA level and total cholesterol and LDL cholesterol levels in the patient group (r = -0.380, P = 0.03, r = -0.474, P = 0.008, respectively). Conclusion This study demonstrated higher leptin levels in the patient group despite similar BMI values. Hence, it seems likely that VPA causes leptin resistance. Unlike other anti-epileptics, VPA does not produce an increase in serum cholesterol levels. On the contrary, lower levels of total and LDL cholesterol levels in VPA-receiving patients have been observed in our study.

Background: Fucosidosis is a rare, autosomal recessive lysosomal storage disease caused by alpha L-fucosidase enzyme deficiency in all tissues. Here, we identify a patient with a novel homozygous pathogenic variant and atypical clinical findings and summarized the clinical and molecular features of Turkish patients reported in the literature and present. Case: the patient was born to consangineous parents at the 28th week of gestation. He had developmental delay that was attributed to prematurity. At he age of 2.5 years, brain magnetic resonans imaging revealed hyperintensities of symmetrical periventricular, subcortical, centrum semiovale and corona radiata regions on T2 and FLAIR weighted images. He developed seizures and showed developmental regression at he age of 3,5 years. Beside, coarse facial features and hepatomegaly were detected on phsyical examination. Lysosomal enzyme analysis revelaed alfa fucosidase deficiency and molecular genetic analysis identified a novel homozygous pathogenic p. Lys431 fs variant in FUCA1 gene. Conclusions: in Turkish patients no distinguishable clinical and radiologic finding could be established. Molecular analysis was performed in few patients. Increasing of molecular and biochemical facilities might enable to make diagnosis and increase the prevalence of the disease in countries with high rate of consanguineous marriages. Moreover, it will provide genetic counseling, and enlighten the therapeutic effects of hematopoietic stem cell transplantation., NA

Aim Surgery for epilepsy is a significant treatment alternative with favorable outcomes in the pediatric age group. In this study we present the surgical outcomes of pediatric population referred to our center. Material and methods The clinical data of 126 patients (≤18 years) with lesional partial epilepsies operated in our center between 1995- 2011 were evaluated retrospectively. Parameters investigated were gender, age at seizure onset, duration of epilepsy, etiology, type and location of operation and outcome. Seizure outcome was classified according to Engel's classification. Results The study group consisted of 70 males (55,6%) and 56 females (44.4%). The most common etiology was malformation of cortical development followed by tumors and hippocampal sclerosis. Overall 73.8% of patients had Engel I, 13.5% Engel II and 11.9% Engel III+IV postoperative seizure outcome. Conclusion The results of our pediatric patients who underwent surgery were similar to previous reports in the literature. The seriousness of the clinical picture should tempt physicians to refer the patients as soon as possible to avoid long term complications like epileptic encephalopathies and the side effects of antiepileptic drugs during the development of the young brains.

Introduction: Ring chromosome 20 presents as a drug-resistant epilepsy syndrome with complex partial seizures and nonconvulsive status epilepticus. Other characteristics are mild to moderate learning disability, and various dysmorphic features. Its diagnosis necessitates a high index of suspicion since the incidence is rare and there is no a specific phenotypic expression. Case: Here we present a child admitted to our pediatric neurology clinic with complex partial seizures and nonconvulsive status epilepticus. Cytogenic studies revealed ring chromosome 20. Conclusion: Cytogenic studies should be part of the evaluation in epilepsy patients who presented with drug resistant epilepsy of unknown etiology. Key words: Ring chromosome 20, drug-resistant epilepsy