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Kaonic atoms are an extremely efficient tool to investigate the strong interaction at the low energy Frontier, since they provide direct access to the K−N interaction at threshold, eliminating the necessity for extrapolation, unlike in the case of scattering experiments. During the 1970s and 1980s, extensive studies were performed on kaonic atoms spanning across a broad spectrum of elements in the periodic table, ranging from lithium to uranium. These measurements provided inputs and constraints for the theoretical description of the antikaon-nuclei interaction potential. Nevertheless, the existing data suffer from significant experimental uncertainties, and numerous measurements have been found to be inconsistent with more recent measurements that utilize advanced detector technology. Furthermore, there remain numerous transitions of kaonic atoms that have yet to be measured. For these reasons, a new era of kaonic atoms studies is mandatory. The DAΦNE electron-positron collider at the INFN Laboratory of Frascati (INFN-LNF) stands out as a unique source of low-energy kaons, having been utilized by Collaborations such as DEAR, SIDDHARTA, and AMADEUS for groundbreaking measurements of kaonic atoms and kaon-nuclei interactions. Presently, the SIDDHARTA-2 experiment is installed at DAΦNE, aiming to perform the first-ever measurement of the 2p → 1s x-ray transition in kaonic deuterium, a crucial step towards determining the isospin-dependent antikaon-nucleon scattering lengths. Based on the experience gained with the SIDDHARTA experiment, which performed the most precise measurement of the kaonic hydrogen 2p → 1s x-ray transition, the SIDDHARTA-2 setup is now fully equipped for the challenging kaonic deuterium measurement. In this paper, we present a comprehensive description of the SIDDHARTA-2 setup and of the first kaonic atoms measurements performed during the commissioning phase of the DAΦNE collider. We also outline a proposal for future measurements of kaonic atoms at DAΦNE beyond SIDDHARTA-2, which is intended to stimulate discussions within the broad scientific community performing research, directly or indirectly, related to this field.

Aim. In this study we presented our experience of 18 years on the etiology, risk factors, prophylactic and acute treatment, the effect of treatment to recurrence rate of patients with stroke. Methods. The population included 108 patients who had been treated for stroke at Pediatric Neurology Department of Ankara University with the diagnosis of arterial ischemic stroke and sinovenous thrombosis between January 1992 and August 2010. Forty-one girls (38%) and 67 boys (62%) with mean symptom age 3.1±4.04 years, (0–18 years old) were followed up with a mean period of 4.9±3.78 years (0–17 years). Results. 30 patients had no risk factors, 34 patients had only one risk factor and 44 patients had multiple risk factors. Recurrence was seen in three patients. There was no any statistical correlation between the recurrence of stroke and the existence of risk factors (𝑃=.961). Seventeen patients received prophylactic treatment; 2 of them without any risk factors, 3 had one risk factor, 12 patients, who constituted the majority of our patients, had multiple risk factors (𝑃=.024). Conclusion. With this study we showed that the right prophylaxis for right patients reduces the rate of recurrence.

Kaonic atom X-ray spectroscopy is a consolidated technique for investigations on the physics of strong kaon-nucleus/nucleon interaction. Several experiments have been conducted regarding the measurement of soft X-ray emission (<20 keV) from light kaonic atoms (hydrogen, deuterium, and helium). Currently, there have been new research activities within the framework of the SIDDHARTA-2 experiment and EXCALIBUR proposal focusing on performing precise and accurate measurements of hard X-rays (>20 keV) from intermediate kaonic atoms (carbon, aluminum, and sulfur). In this context, we investigated cadmium-zinc-telluride (CdZnTe or CZT) detectors, which have recently demonstrated high-resolution capabilities for hard X-ray and gamma-ray detection. A demonstrator prototype based on a new cadmium-zinc-telluride quasi-hemispherical detector and custom digital pulse processing electronics was developed. The detector covered a detection area of 1 cm 2 with a single readout channel and interesting room-temperature performance with energy resolution of 4.4% (2.6 keV), 3% (3.7 keV), and 1.4% (9.3 keV) FWHM at 59.5, 122.1, and 662 keV, respectively. The results from X-ray measurements at the DAΦNE collider at the INFN National Laboratories of Frascati (Italy) are also presented with particular attention to the effects and rejection of electromagnetic and hadronic background.

The evaluation of pleural diseases has been well established. If pleurocentensis is non-diagnostic, the second investigation depending upon availability could be either closed pleural biopsy or image guided pleural biopsy or thoracoscopic pleural biopsy (medical or surgical). Pleural disease presenting as thickness/mass/nodule in the mediastinum is difficult to access through ultrasound or computed tomography and will need thoracoscopy. Thoracoscopy is an invasive procedure which can be difficult to perform in localized mediastinal pleural disease without effusion or poor health condition not suitable for general anesthesia. An alternative method that can be utilized is sampling of pleural lesion through convex probe endobronchial ultrasound (CEBUS) either through the central large airways or from esophagus if the lesions are in proximity. We present our center's experience in diagnosing pleural lesion using C-EBUS in 4 patients along with review of the literature.

Background and Aims: The relationship between anti-epileptic usage and oxidative damage has not yet been clearly understood. In our study, we investigated oxidative stress parameters, carnitine levels, liver function tests (LFT) and their relationship in epileptic children treated with valproic acid or levetiracetam., Method: LFTs, serum free carnitine and oxidative damage markers and their relations with each other were determined in patients who are on valproic acid or levetiracetam treatment at least for 6 months. 25 patients on therapeutic doses of valproic acid, 26 patients on therapeutic doses of levetiracetam and 26 healthy volunteers as controls were included. LFTs, ammonia, carnitine, lipid peroxidation biomarker malondialdehyde (MDA) and a sensitive marker of DNA damage, 8-hydroxy-2-deoxyguanosine (8-OHdG) levels were measured. Results of patients are compared to healthy controls. The data is evaluated with IBM SPSS Statistics 22.0., Results: Ammonia and MDA levels were elevated in patients using levetiracetam; 8-OHdG levels were elevated in both patient groups. Carnitine levels were significantly low in patients under valproic acid therapy, however they were not found to be correlated with MDA, 8-OHdG or LFTs. MDA showed positive correlation with ammonia and 8-OHdG in the levetiracetam group., Conclusion: We did not observe hepatotoxicity in patients under therapeutic doses of valproic acid. However, epileptic children under therapeutic doses of levetiracetam showed significantly elevated levels of MDA and 8-OHdG, which is supportive for oxidative damage under levetiracetam therapy. This result was observed for the first time in childhood epilepsies and further studies are needed to understand its mechanism., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Introduction: Hashimoto's encephalopathy (HE) is an autoimmune condition with varied neurological and psychiatric features. HE is very unusual as a cause of pseudobulbar palsy (PSP)., Case Presentation: A 14-year-old male was admitted with right-sided weakness, dysphagia, speech disorder, and aggressiveness. Brain magnetic resonance imaging showed increased intensity in bilateral temporal, insular cortex, amygdala, and parahippocampal area on T2-weighted and fluid-attenuated inversion recovery images. Autoimmune encephalitis was considered as the patient had subacute onset of psychiatric and motor disturbances with normal findings for cerebrospinal fluid. N-methyl-D-aspartate receptor, anti-glutamate-type α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid 1 and 2, anti-contactin-associated protein-like 2, anti-gamma-aminobutyric acid receptor, anti-Leucine-rich, and glioma-inactivated 1 antibodies were negative but the anti-thyroperoxidase (antiTPO) level was greater than 998 IU/ML (n:0-9). Steroid therapy was initiated as pulse therapy and maintained with 2-mg/kg/day dose with the diagnosis of HE. He was symptom free for 6 months. In the follow-up period, he had two recurrences which responded to steroid therapy., Conclusion: The common causes of PSP are demyelinating, vascular, and motor neuron diseases and congenital malformations of the opercular or insular cortex. However, there are no cases of PSP developing after any autoimmune encephalitis. This case highlights the importance of early detection of antiTPO antibodies with the findings of PSP due to autoimmune encephalitis.

The purpose of this study was to compare the optic disc parameters, retinal nerve fiber (RNFL), and macular ganglion cell layers between patients with diabetes mellitus (DM) type 2 and healthy controls.In this cross-sectional study, 69 eyes of 69 diabetic patients without diabetic retinopathy and 47 eyes of 47 healthy controls were included. Optic disc parameters (i.e., rim area, disc area, cup to disc ratio, cup volume), RNFL, and macular ganglion cell-inner plexiform layers (GCL + IPL) thickness were measured by means of spectral domain optical coherence tomography.There were not statistically significant differences between the diabetic patients and healthy controls in terms of RNFL thickness (P = .32), rim area (P = .20), disc area (P = .16), cup volume (P = .12), and average macular GCL + IPL thickness (P = .11). Nevertheless, binocular RNFL thickness symmetry percentage (P =.03), average cup to disc ratio (P = .02), and superior-nasal macular GCL + IPL thickness (P = .04) were statistically significantly different in the diabetic and control groups.Diabetic patients without retinopathy have more binocular RNFL thickness asymmetry, higher cup to disc ratio, and thinner sectoral macular GCL + IPL when compared to healthy controls. Our results may support the statement that DM causes inner retinal neurodegenerative changes.

Attention-deficit hyperactivity disorder (ADHD) is one of the most commonly seen developmental disorders in childhood. Its etiology, however, is not well known even though bio-psycho-social reasons have been thought to play a big role. The aims of this retrospective study are to identify the risk factors of ADHD in patients diagnosed with ADHD in childhood, analyze the relationship between clinical symptoms and risk factors to which they were exposed and determine their effects on prospective electrophysiological findings. Longitudinal cohort study of all children with ADHD treated at Ankara University Medical University during 2007-2012, with follow-up to ascertain risk factors and seizure and EEG abnormalities outcome. Multinominal univariate logistic regression analysis was used to calculate adjusted risk ratios (RRs) and 95% confidence intervals (CIs) for associations. Epileptiform discharges were found in 32 (22.9%) of the 140 ADHD patients. Of these, 71.9% had focal epileptiform discharges and 28.1% had generalized epileptiform discharges. The focal epileptiform discharges were most prevalent from the rolandic area. Among the 140 patients, 20 (14.3%) had a previous history of seizure, and all twenty had epileptiform discharges on EEG whereas none of the patients who had normal EEG had a seizure history. The rates of epileptiform discharges were significantly related to gestational age and asphyxia (RR: 1.8, 95% CI 0.3, 9.3; RR: 9.6, 95% CI 2.3, 40, respectively), whereas the rates of epilepsy were related to asphyxia but not gestational age. History of asphyxia and prematurity do seem to increase the risk of EEG abnormality in patients with ADHD. Modification of these environmental risk factors by evidence-based prevention programs may help to decrease the burden of ADHD.

Botulism is a rare cause of neuroparalysis. Delay in diagnosis and treatment exerts adverse impact on mortality and morbidity. We report a child with complete flaccid paralysis followed by progression to coma-like consciousness. The patient required mechanical ventilation. As serological tests could not be performed, detailed history and physical examinations led to the suspicion of botulism, and repetitive nerve stimulation tests supported the diagnosis. Botulinum antitoxin was administered. The patient`s neuromuscular function improved rapidly.

The plasminogen (Plg) protein is the inactive proenzyme form of plasmin that dissolves fibrin thrombi by a process called fibrinolysis. It has been shown that homozygous or compound-heterozygous deficiency of this protein is a major cause of a rare inflammatory disease affecting mainly mucous membranes found in different body sites. In this study, five individual Turkish patients and nine Turkish families with type 1 Plg deficiency were investigated for PLG gene mutations. All of the coding regions of the PLG gene mutations were screened for mutations using denaturing high-pressure liquid chromatography (DHPLC). Samples showing a different DHPLC profile were subjected to DNA sequencing analysis. Here, we described five novel mutations namely, Cys49Ter, +1 IVS6 G>A, Gly218Val, Tyr283Cys, and Gly703Asp. Previously identified five nonsynonymous (Lys38Glu, Glu180Lys, Gly420Asp, Asp453Asn, Pro763Ser), five synonymous (330 C>T, 582 C>T, 771 T>C, 1083 A>G, 2286 T>G), and a 3' untranslated region (3' UTR) mutation (c.*45 A>G) were also reported in this present study. In this study, we have identified a total of eight mutations, five of which are novel. The mutations/polymorphisms identified in eight of the patients do not explain the disease phenotype. These cases probably carry other pathological mutations (homozygous or compound heterozygous) that cannot be detected by DHPLC.

Celiac disease (CD) is a chronic disease involving a number of systems in addition to gastrointestinal tract. Although not clear, it has been supposed that the neurological symptoms of CD develop due to immune-mediated mechanisms. In this paper, we present a rare case diagnosed with CD at 12 years of age, and presented with a clinical picture resembling mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). She had onset of her neurological symptoms at the age of 6 years, they progressed despite various therapies, and she became wheelchair-bound.

We aimed to provide early diagnosis by determining possible Celiac disease related subclinical or symptomatic neurological abnormalities in children in order to decrease risk of mortality and morbidity. Children with Celiac disease were assessed with neurological examination, neurophysiological tests and neuroimaging. A total of 65 patients were included in the study. The neurological examination was abnormal in 4 patients. There were EEG abnormalities in 5 patients, VEP was abnormal in 7 patients, BAER was abnormal in 1 patient, ENMG was abnormal in 8 patients, and there were abnormal findings on neuroimaging in 2 patients. The Celiac disease related neurological complications that manifest in adulthood usually lay their foundations in childhood. Therefore, it must be kept in mind that subclinical neurological abnormalities may be related to Celiac disease, and Celiac disease may be the underlying cause in the patients with overt neurological abnormalities in childhood.

Our aim is to present the etiology and risk factors for cerebral sinovenous thrombosis (CSVT) and the radiological findings, anticoagulant therapy used, and treatment outcome of patients with CSVT. This study included 12 patients who were treated for CSVT at the Ankara University, School of Medicine, Department of Pediatric Neurology. This study included 5 girls (41.7%) and 7 boys (58.3%) with a mean age of symptom onset of 5.2 ± 6.29 years (range: 0-18 years), who were followed at our institution for a mean of 1.8 ± 1.73 years (range: 0-6.5 years). Among the patients, 3 had no risk factors, 2 had 1 risk factor, and 7 had multiple risk factors. Anticoagulant therapy was administered to 4 patients, of which 1 had neurological sequelae; neurological sequelae or exitus occurred in 4 of the 8 patients who did not receive anticoagulant therapy. The present findings showed that appropriate prophylaxis in appropriately selected patients reduced the rate of recurrence of CSVT., (© The Author(s) 2014.)

Niemann-Pick disease type C (NPC) is a fatal autosomal recessive lipid storage disease associated with impaired trafficking of unesterified cholesterol and glycolipids in lysosomes and late endosomes. This disease is commonly characterized by hepatosplenomegaly and severe progressive neurological dysfunction. There are two defective genes that cause this illness. One of these genes is NPC1 gene which is the cause of illness in 95% of the patients. The other gene is the rare type NPC2 which is the cause of illness in 5% of the patients. Patients with NPC2 usually present with respiratory distress in early infancy, which is rather unusual with NPC1. This article discusses about a patient who died at an early age from pulmonary involvement and who subsequently was found to have a novel homozygous mutation of NPC2 gene.

Objectives: The objective of this article is to determine the relationship between headache frequency and socio-demographic data, personal characteristics, habits, daily activities, daily loss of ability, depression and anxiety in the headache subtypes in the pediatric population., Patients and Methods: Our sample group was composed of approximately 5355 children aged between 9 and 18 years. An eight-stage questionnaire was administered to the children. In the second stage of the study, headache subtypes were created according to the ICHD-II criteria. The resulting data were compared according to the results of the headache subtypes., Results: In school-age children, the prevalence of recurrent headaches was 39.4%, and the prevalence of migraine was 10.3%. The subjects with migraine mostly preferred sedentary activities in their leisure time, and preferred less exercise than the subjects with the other headache types. The PedMIDAS score of the children who preferred to play sports was significantly lower than those who did not prefer to play sports. In the group that preferred reading books, an opposite relationship was found. In overweight and obese migraine sufferers, other types of headache were found to be significantly higher., Conclusions: In the management of treating childhood headaches, the association of psychiatric comorbidities should be considered. To minimize disability, children should be directed to more useful physical activities., (© International Headache Society 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.)

Our aim was to determine the presence and possible role of autoantibodies in epileptic patients with an undetermined etiology. Eighty epilepsy patients, who were referred to the Pediatric Neurology Department at Ankara University between November 2011 and April 2012, were enrolled in the study. Antinuclear antibodies (ANA), anticardiolipin IgG, antiphospholipid, antithyroid peroxidase, paraneoplastic, glutamic acid decarboxylase (GAD), and N-methyl-d-aspartate (NMDA) receptor antibodies were studied in our university laboratory. In addition, NMDA receptor (NMDAR), voltage-gated potassium channel (VGKC)-complex, leucine-rich, glioma inactivated 1 (LGI1) and contactin-associated protein 2 (CASPR2) antibodies were studied at the Oxford University Immunology Laboratory. The study included 35 girls (44%) and 45 boys (56%) with a mean symptom age of 8.6 ± 4.53 years. ANA was detected in 15 (18.8%), antiphospholipid Ab in 3 (3.75%), anticardiolipin Ab in 1 (1.25%), and antithyroid peroxidase in 3 (3.75%) epileptic patients. In addition, anti-GAD Ab was detected in 7 (8.75%), anti-Yo Ab in 3 (3.75%), and anti-Ma2 in 3 (3.75%) epileptic patients. Anti-VGKC was positive in 13 (16.25%) epileptic patients. We performed a pioneer study to investigate the association between autoimmunity and pediatric epilepsy and we conclude that autoimmunity should be considered in epileptic patients with an undetermined etiology., (Georg Thieme Verlag KG Stuttgart · New York.)

Herpes encephalitis (HE) is among the most common forms of viral encephalitis. Earlier publications indicate the development of acyclovir-refractory choreoathetosis in patients with HE. These reports suggest the development of secondary autoimmunity in the pathogenesis of HE. Combined methylprednisolone and acyclovir treatment reduced the appearance of brain abnormalities relative to treatment with acyclovir alone in a mouse model of encephalitis. We describe a case of a 19-month-old previously healthy girl presenting with sudden onset seizures and loss of consciousness. Initial polymerase chain reaction (PCR) tests for the presence of herpes simplex virus (HSV) were negative as were the tests for the limbic encephalitis antibodies. Steroids were administered with acyclovir to treat suspected autoimmune encephalitis as a result of the patient history of varicella vaccination. HSV PCR testing was positive on the 5th day; however, steroid treatment was continued due to the positive response seen in the patient. Steroid therapy was reduced on the 25th day of treatment due to the development of upper respiratory tract infection and the patient developed orofacial dyskinesia and choreoathetoid movements on the 28th day. Antibodies against N-methyl-d-aspartate receptor were detected in the in the serum and cerebrospinal fluid (CSF) on the 28th day. This case is an example of the emergence of autoimmune symptoms in the pathogenesis of HE., (Georg Thieme Verlag KG Stuttgart · New York.)

Purpose: To evaluate and compare the success of chloral hydrate (CH) and hydroxyzine on sedation and assess the changes of these drugs on sleep EEG recordings., Method: Three hundred and forty-one patients (mean age: 60.92±53.81months) that were uncooperative with the EEG setup or referred for sleep EEG were enrolled in the study. Patients, partially sleep-deprived the night before, were firstly tried to fall on sleep without any medication, the patients who could not sleep spontaneously were randomly divided in two groups of hydroxyzine and chloral hydrate., Results: In 147 (43%) of cases, CH was given for sedation. In 112 (32%) hydroxyzine and in 8% of cases CH and hydroxyzine were given. 17% of children had spontaneous sleep. The doses of drugs prescribed were as follows: hydroxyzine 1.43±0.74mg/kg CH 38±14.73mg/kg. The time to go on a sleep was 34.68±30.75min in hydroxyzine and 32.34±26.83min in CH group (p>0.05). Eighty-nine percent of cases who were sedated with CH and 89.6% of cases who sedated with hydroxyzine were able to sleep (p>0.05). The background rhythm was faster with CH compared to hydroxyzine (p<0.05). There were no association between the occurrence of fast background rhythm and the doses of CH., Conclusion: The study described the clinical practice of sedation with CH and hydroxyzine on EEG recording. Data suggest that CH with low doses and hydroxyzine is equally effective for sleep induction, but the side effects of CH on the sleep EEG is much more prominent., (Crown Copyright © 2013. Published by Elsevier B.V. All rights reserved.)

Protein C inhibitor is a heparin dependent serine protease inhibitor found in human plasma, urine and other body fluids. It was originally identified as an inhibitor of activated protein C. Stroke is an important cause of morbidity and mortality in the pediatric age group. In this study we analyzed the protein C inhibitor gene mutations in Turkish pediatric stroke patients. We found a missense mutation of G to A at nucleotide 6760 in exon 2, resulting in a transition serine to asparagine (p.Ser188Asp) and in a child and his father and also we found same alteration in exon 2 in an another pediatric stroke case following bone marrow transplantation.

Valproic acid (VPA) is still an important antiepileptic drug, with the broadest spectrum used in all types of seizures and syndromes. It has serious adverse effects such as hepatotoxicity, hyperammonemic encephalopathy, coagulation disorders, and pancreatitis. The incidence of VPA-associated pancreatitis has been estimated to be 1:40,000. We present a 6-year-old boy who developed acute pancreatitis (AP) and multiple-organ failure after 3 months of VPA therapy. The patient's laboratory values showed that his kidney and hepatic function had impaired and thrombocytopenia, and coagulopathy had developed. The patient's abdominal tomography showed a suspected appearance, which was consistent with pancreatitis. Because amylase and lipase levels were found to be high, AP was considered. The patient improved after cessation of VPA treatment. Ten days later, the patient recovered both clinically and laboratorial. Consequently, the patient was discharged with cure. In conclusion, AP is a rare, severe adverse reaction to VPA treatment. If a child, who is receiving VPA, develops abdominal pain and vomits, VPA-associated pancreatitis must be considered.

Brucellosis is a public health problem in most countries in the Mediterranean. Involvement of the central nervous system is seen in 4-13% of patients with brucellosis. A 13-year-old girl was admitted because of gait disturbance, diplopia, and dizziness. Her complaints began about 1.5 years ago. The second symptomatic episode repeated about three months ago and the third two months ago. In total, attacks repeated 3 times over 1.5 years. The magnetic resonance imaging (MRI) and the clinical features mimicked multiple sclerosis. The patient was given pulse steroid treatments. After steroid treatment, her gait disturbance and diplopia improved over the short term. Following positive developments, her symptoms recurred. The tests were repeated; the MRI showed increasingly high signal abnormalities, and Brucella melitensis was grown in cerebrospinal fluid. The patient was started on an oral combination of rifampin, doxycycline, and ciprofloxacin. MRI findings improved markedly after nine months of treatment. Although neurobrucellosis is associated rarely with demyelination in adults, this finding has not been reported previously in children or adolescents. Additionally, this case is the first in terms of involvement of the corpus callosum in neurobrucellosis. In this article, we present an unusual case of neurobrucellosis.

Objective: The aim of this study was to investigate the endothelial protein C receptor (EPCR) gene A3 haplotype and plasma soluble EPCR (sEPCR) levels in Turkish pediatric arterial stroke patients., Materials and Methods: We analyzed 44 pediatric arterial stroke patients and 75 healthy controls. Following DNA isolation, genotyping of the A3 haplotype was determined via PCR and RFLP. Additionally, fasting sEPCR levels were determined via ELISA., Results: There wasn't a significant difference in the sEPCR level between the control and patient groups, although the sEPCR level was higher in the patient group. We didn't observe a difference in the distribution of the CC and CG/GG genotypes between the control and patient groups., Conclusion: Further study on sEPCR levels at the onset of pediatric stroke is needed in order to reach a more definitive conclusion., Conflict of Interest: None declared.

This study evaluates specific electroencephalogram abnormalities in pediatric migraine and tension-type headaches, and demonstrates the clinical value of these abnormalities. We studied 50 migraine patients and 50 tension-type headache patients. Their mean age ± SD was 10.62 ± 3.21 (range, 5-16) years in the migraine group, and 13.00 ± 2.37 (7-16) years in the tension-type headache group. Diagnoses were rendered according to the International Classification of Headache Disorders, 2nd Edition, First Revision, of the International Headache Society. All patients underwent two waking-state electroencephalograms, one during a headache, and the other when headache-free. Thirty-six percent (18/50) of migraine patients and 12% (6/50) of tension-type headache patients revealed specific electroencephalogram abnormalities in headache attack electroencephalograms (P < 0.05). In headache-free period electroencephalograms, 16% (8/50) of the migraine group and 2% (1/50) of the tension-type headache group revealed abnormalities (P < 0.05). Our results indicate that electroencephalogram abnormalities are particularly prevalent in migraines, especially during headache attacks. This study is the first, to the best of our knowledge, on electroencephalographic evaluation of pediatric migraine and tension-type headache patients during both headache attacks and headache-free periods., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Hashimoto encephalopathy is a rare, clinically heterogenous condition. Its treatment is based on corticosteroids. A previously normal 12-year-old boy was admitted to our pediatric emergency department with status epilepticus. He experienced a recurrence of status epilepticus after pentobarbital withdrawal, and required repeated resumptions of drug-induced coma. He manifested acute personality changes. His limbic encephalitis markers were normal, but his level of anti-thyroid peroxidase antibody was high. A diagnosis of Hashimoto encephalopathy was considered. Our patient responded to plasmapheresis instead of corticosteroid treatment. This case report is the first, to the best of our knowledge, of plasmapheresis because of Hashimoto encephalopathy in a child., (Crown Copyright © 2012. Published by Elsevier Inc. All rights reserved.)

The purpose of this study was to examine the lipoprotein (a) [Lp(a)] levels in children with migraine to see a possible relationship between migraine and stroke via high Lp(a) levels. Plasma levels of Lp(a) were determined in 63 patients and age-matched control subjects. The mean age in the control group was 10.57 ± 3.63 years and 11.51 ± 3.19 years in the migraine patient group. The mean Lp(a) levels in control group were 10.36 ± 10.41 ng/mL and 17.09 ± 12.12 ng/mL in migraine group (P < 0.05). The median Lp(a) level in the control group was 49.38 ng/mL and was 77.62 ng/mL in the migraine group (P < 0.05). Twelve patients (19%) had Lp(a) levels of >30 ng/mL in the migraine group and 4 (6.3%) in the control group (P < 0.05). Several prothrombotic factors related to an increased risk of stroke have been studied in migraine patients. It has recently been reported that high Lp(a) concentrations represent a risk factor for migraine, thus establishing a novel plausible link between migraine and stroke. The current study suggests evidence of high Lp(a) concentrations in childhood migraine; perhaps a novel link exists between migraine and stroke., (Crown Copyright © 2011. Published by Elsevier Inc. All rights reserved.)

A multidisciplinary approach is mandatory in defining the cause and directing the treatment of childhood urinary incontinence. Both pediatricians and pediatric urologists should carefully evaluate a child with incontinence for possible overlapping etiologies, before labeling him or her as a refractory case. We report an epileptic boy with dysfunctional elimination syndrome (DES) with associated rare complications of giggle incontinence and idiopathic urethritis, proving the need for a good voiding diary, patient history and structured symptom scores.

Aim. In this study we presented our experience of 18 years on the etiology, risk factors, prophylactic and acute treatment, the effect of treatment to recurrence rate of patients with stroke. Methods. The population included 108 patients who had been treated for stroke at Pediatric Neurology Department of Ankara University with the diagnosis of arterial ischemic stroke and sinovenous thrombosis between January 1992 and August 2010. Forty-one girls (38%) and 67 boys (62%) with mean symptom age 3.1 ± 4.04 years, (0-18 years old) were followed up with a mean period of 4.9 ± 3.78 years (0-17 years). Results. 30 patients had no risk factors, 34 patients had only one risk factor and 44 patients had multiple risk factors. Recurrence was seen in three patients. There was no any statistical correlation between the recurrence of stroke and the existence of risk factors (P = .961). Seventeen patients received prophylactic treatment; 2 of them without any risk factors, 3 had one risk factor, 12 patients, who constituted the majority of our patients, had multiple risk factors (P = .024). Conclusion. With this study we showed that the right prophylaxis for right patients reduces the rate of recurrence.

Rhabdomyoma is the most common pediatric heart tumor. Cardiac rhabdomyomas (CRs) have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). We aimed to evaluate the clinical presentation and outcome of CRs and their association with TSC. Patients with CRs diagnosed in last six years were retrospectively analyzed. A total of 25 tumors were identified in seven patients by echocardiography. Three patients were diagnosed prenatally by fetal echocardiography, three patients in the neonatal period and one patient in early infancy. The median followup period was two years (range: 5 months-6 years). Five patients (71%) had multiple tumors. Three patients had arrhythmias and two patients required surgery. Only 36% (9/25) of the tumors regressed. TSC was diagnosed in four patients during the follow-up. CRs may have different presentations and clinical course. Surgery is only necessary when hemodynamically significant obstruction is present. As CRs are associated with long-term development of TSC and other diagnostic features are not yet typically apparent in the prenatal and neonatal periods, careful evaluation and follow-up are essential to exclude TSC.

Lipoprotein (a) is a cholesterol-rich plasma lipoprotein with a lipid composition similar to that of low-density lipoproteins (LDL). Many prospective and case-control studies identified elevated levels of lipoprotein (a) as a risk factor for premature myocardial infarction and stroke. Elevated lipoprotein (a) has been identified as a genetically determined risk factor for stroke in young adults, but only preliminary data are available on its role as a risk factor for ischemic stroke in infants and children.Fifty two children with arterial ischemic stroke and 78 age- and sex-matched healthy children were studied. Data of this study indicate that 26.9% of children with arterial ischemic stroke had high lipoprotein (a) levels in comparison with the age matched healthy control group.Measurement of lipoprotein (a) should be included in screening programs performed in young patients suffering not only from venous thromboembolism but also arterial ischemic stroke, in addition to other thrombophilic factors.

Hypoxic-ischemic cerebral injury that occurs during the perinatal period is one of the most commonly recognized cause of long-term neurological deficit in children, often referred to as cerebral palsy. We describe a case with capillary leak syndrome and seizures to co-morbid status epilepticus related to perinatal hypoxic-ischemic encephalopathy in newborn period.

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone-shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature. Diabetes insipidus, hypothyroidism, hypocortisolism, and growth hormone deficiency are frequently associated with HPE. We here report a case of semilobar HPE, craniosynostosis and cleft lip/palate, possibly a case of Genoa syndrome, associated with central diabetes insipidus.

ER stress is associated with a range of pathological conditions, among which, the ischemia/reperfusion injury is also found. The mechanistic array of links among the ER stress and thrombovascular diseases is poorly understood. The XBP1 gene is a transcription factor which modulates the ER stress response; and the XBP1 (-116 C/G) gene polymorphism causes an impairment of its positive feedback system. In the present study we investigated the prevalence of XBP1 gene (-116 C/G) polymorphism, separately among the patients with atherosclerosis, ischemic stroke and hyperhomocysteinemia. The G allele and the (-116 G/G) genotype of the XBP1 (-116 C/G) gene polymorphism were found to be a significant risk factor for the patients with Ischemic Stroke. Yet, this allele was seemingly less significant in case of patients with atherosclerosis and hyperhomocysteinemia. Hence, the XBP1 (-116 C/G) gene polymorphism and especially its involvement in a homozygous state are suggested to take active role in the ER stress related ischemia/reperfusion injury.

The aim of the authors is to examine the relationship between the cytokine levels that are thought to be involved in stroke etiopathogenesis (tumor necrosis factor [TNF]-alpha, interleukin [IL]-2, IL-6, IL-8, IL-11), soluble protein C receptor (sEPCR), and factor VIII (FVIII) levels. The study included 27 patients with stroke and 30 healthy controls, aged 0 to 18. In the comparison of the sEPCR, cytokine, and FVIII levels between patient and control groups, median levels of TNF-alpha, IL-2, IL-6, and IL-8 are found to be high in the patient group when compared with controls, whereas there is no difference in sEPCR, IL-11, and FVIII levels. In the patient group, a positive correlation is seen between TNF-alpha levels and IL-2 and IL-6 levels, between IL-2 and IL-6 levels, and between IL-6 and IL-8 levels, whereas a negative relationship is seen between sEPCR and FVIII. In the control group apart from the patient group, a negative relationship is seen between TNF-alpha and FVIII, whereas there is a positive relationship between IL-11 and sEPCR levels. Median sEPCR levels in patients who have normal or low FVIII levels are significantly high when compared with those with high FVIII levels. In conclusion, in the pediatric population, an increase in TNF-alpha, IL-2, IL-6, and IL-8 levels is seen. Also, an inverse relationship of sEPCR and FVIII levels is shown for the first time. This study provides a basis for ongoing studies that aim to clarify stroke etiopathogenesis. Studies with larger series of patients are warranted to confirm this hypothesis.

Background: The diagnostic category pervasive developmental disorders (PDDs) refer to a group of five disorders: autism, Rett syndrome, childhood disintegrative disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS). EEG abnormalities and seizures are considered much frequent in autistic subjects with comorbid intellectual disability (ID). In this study, we aimed to evaluate the EEG and MRI findings and their relation with ID in pervasive developmental disorder., Methods: A retrospective, cross-sectional and non-experimental study was performed. Subjects included 81 patients diagnosed with autism or PDD-NOS according to the DSM-IV criteria. The age range of the patients was 2-15 years (mean 6.6 years, SD 3.0). Among them, 21 (25.9%) were girls and 60 boys (74.1%)., Results: Patients with severe ID had a higher rate of EEG abnormalities (P=0.03) than patients without ID as well as patients with mild or moderate ID. The association remained significant after the structural MRI abnormalities were controlled (P=0.04). The severity of ID was not associated with abnormal MRI. The most frequent EEG and MRI abnormalities were active epileptic anomaly/paroxysmal abnormality and cerebral atrophy/periventricular leukomalacia, respectively. Almost a third of the EEG abnormalities were associated with temporal cortex and adjacent cortical structures., Conclusions: Consistent with previous studies, almost a fourth of the patients in this relatively large sample of patients with pervasive developmental disorders had EEG and/or MRI abnormalities. EEG results indicate that temporal cortex may play a significant role in pervasive developmental disorders.

There are few reports on valproic acid related to thrombophilia. Thrombophilic risk factors were investigated in 21 children (age range, 1-13 years) diagnosed with epilepsy and newly treated with valproic acid monotherapy. None of the children had been previously treated with any anticonvulsant agent. Before starting valproic acid therapy, homocysteine, lipoprotein(a), factor VIII, factor IX, protein C, protein S, antithrombin III levels, and activated protein C resistance levels were evaluated in all patients, with repeat evaluation after 9 months or 1 year of the therapy. Thrombosis gene mutations (factor V Leiden and prothrombin G20210A) were also evaluated in all patients before therapy. There was statistically significant elevation in lipoprotein(a) levels and reduction in fibrinogen levels after treatment. Reduction in protein C levels and elevation in homocysteine levels were also observed, but without statistical significance. Before therapy, no thrombotic event had occurred, despite thrombotic risk factors in some patients. Valproic acid can increase lipoprotein(a) and decrease fibrinogen, which may increase the risk of stroke or other thrombotic events. No clinical adverse effects resulted from changes in the levels or activity of thrombophilic factors associated with valproic acid treatment. Thus, routine investigation of factors implicated in thrombosis prior to initiation of valproic acid is not warranted for all patients. Nonetheless, caution is advised when initiating valproic acid treatment in children who have had prior stroke or thrombotic events.

We investigated the relationship between total serum bilirubin and serum Tau and S100B protein levels, and predicted a cutoff level of bilirubin-induced neurotoxicity in term newborns. Total serum bilirubin, serum Tau, and S100B levels were measured in 92 jaundiced term newborns. A neurologic examination, electroencephalogram, brainstem auditory-evoked response, and otoacoustic emission were performed in the infants on admission and at age 3 months. Serum Tau (r = 0.921, P < 0.001) and S100B (r = 0.927, P < 0.001) levels were correlated with total serum bilirubin levels in all infants. Serum Tau and S100B protein levels remained at a steady level up to a total serum bilirubin level of 19.1 mg/dL, and then demonstrated a significant increase. Mean total serum bilirubin, serum Tau, and S100B levels of infants who manifested auditory neuropathy, neurologic abnormalities, or electroencephalogram abnormalities were significantly higher than in infants without these abnormalities (P < 0.05). Clinical and laboratory findings of bilirubin-induced neurotoxicity developed after a total serum bilirubin level of 22 mg/dL was reached. Serum levels of Tau and S100B proteins in jaundiced term newborns were strongly correlated with early-phase bilirubin encephalopathy.

Protein Z (PZ) plays an enhancer role in coagulation as an anticoagulant. This is the first study in which G79A polymorphism investigated in Turkish paediatric stroke patients. Ninety-one paediatric stroke patients with cerebral ischemia and 70 control subjects were analyzed for PZ G79A and also FVL, PT mutations. PZ 79 'A' allele in homozygous state was found in five patients (5,5%), while it was found only in one control subject (1,4%) and it was seemed as a risk factor for peadiatric ischemia [OR=3,94 (0,44-35,1)]. When patients and controls who had FVL and PT carriers were excluded, AA genotype carried a risk [OR=3,88 (0,41-36,5)]. Also plasma protein Z levels measured in 21 stroke patients and 52 controls. Plasma protein Z levels were not different between stroke patients (500,95 ngmL-1±158,35) and controls (447,34 ngmL-1±165,97). But the plasma levels of protein Z was decreased in patients with AA genotype. Our data showed that carrying 79 AA genotype could be a genetic risk factor for cerebral infarct in peadiatric patients.

Muscle-eye-brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-II lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more suitable with the diagnosis of Walker-Warburg syndrome. However, the same mutation resulted in a less severe form of MEB in the older sibling, who is 14 years old. These two cases suggest that POMGnT1 mutations may cause MEB disease with different phenotypes even in the same family.

We report a 3-month-old male with infantile hypophosphatasia who later developed Pseudotumor cerebri. At the age of 3 months, he was referred to our hospital because of pneumonia and respiratory insufficiency. He had short extremities, and radiographs of the bones were consistent with lack of metaphyseal mineralization and bowed lower extremities. Vomiting and bulging fontanelle developed 3 months after admission, and CSF opening pressure was notably high at 430 mm/H2O. Hypophosphatasia is a very rare cause of pseudotumor cerebri. This report is the first case where PTC is associated with hypophosphatasia and responded well to corticosteroid therapy.

Myasthenia gravis (MG), a chronic disease characterized by unusual fatigability of voluntary muscles, was first described by Willis. Three forms of MG are seen in childhood: juvenile MG, congenital MG and transient neonatal MG. Aside from age of onset, there is no difference in terms of pathology and pathogenesis between juvenile MG and adult-onset MG. Juvenile MG, like adult MG, appears to result from T-cell-initiated antibodies directed against end-plate Ach receptor protein. The onset of juvenile myasthenia can be insidious, although at times it is rapid, often a sequel to an acute febrile illness. Generally, muscles innervated by the cranial nerves are affected first, with bilateral ptosis being the most common presenting sign. Generalized weakness and dysphagia are less common presenting symptoms, while the clinical course is highly variable.

Background: Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a severe and progressive autosomal recessive polyneuropathy. Mutations in the potassium-chloride cotransporter 3 gene (KCC3) were identified as responsible for HMSN/ACC in the French Canadian (FC) population. In the present study, the authors were interested in finding new mutations in non-FC populations, assessing the activity of mutant proteins and refining genotype-phenotype correlations., Methods: The authors screened KCC3 for mutations using direct sequencing in six non-FC HMSN/ACC families. They then assessed the functionality of the most common mutant protein using a flux assay in Xenopus laevis oocytes., Results: The authors identified mutations in exon 22 of KCC3: a novel mutation (del + 2994-3003; E1015X) in one family, as well as a known mutation (3031C-->T; R1011X) found in five unrelated families and associated with two different haplotypes. The function of the cotransporter was abolished, although a limited amount of mutant proteins were correctly localized at the membrane., Conclusions: KCC3 mutations in exon 22 constitute a recurrent mutation site for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), regardless of ethnic origin, and are the most common cause of HMSN/ACC in the non-French Canadian (FC) families analyzed so far. Therefore, for genetic analysis, exon 22 screening should be prioritized in non-FC populations. Finally, the R1011X mutation leads to the abrogation of KCC3's function in Xenopus laevis oocytes, likely due to impaired transit of the cotransporter.