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Lance-Adams syndrome is a rare but devastating disorder characterized by rest, action, and stimulus-sensitive myoclonus after cardiorespiratory arrest. We aimed to present a case of multidrug-resistant Lance-Adams syndrome that was successfully treated with oral phenobarbital therapy.We report a previously healthy 11-year, 6-month-old boy was referred to our pediatric intensive care unit because of severe hypoxic ischemic brain injury due to sudden cardiorespiratory arrest. On the 15th day of hospitalization, he developed myoclonic jerks involving his limbs, trunk, and eyes. Despite many antiseizure medications in different combinations, myoclonic jerks persisted. Then, phenobarbital was started, and myoclonic jerks disappeared the next day. At the final evaluation, additional phenobarbital treatment was continued for 6 months and the patient remained myoclonus-free during this time.To the best of our knowledge, this case is the first report describing significant improvement with phenobarbital in a patient with multidrug-resistant Lance-Adams syndrome. We suggest that phenobarbital is an effective option and should be kept in mind in patients with multidrug-resistant Lance-Adams syndrome.

Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations in the tRNA isopentenyltransferase (TRIT1) gene in chromosome 1p34.2. To date, only 10 types of allelic variants in the TRIT1 gene have been previously reported in 9 patients with COXPD35. Herein, we describe a case with a novel homozygous missense variant in TRIT1. A 6-year, 6-month-old boy presented with global developmental delay, microcephaly, intractable seizures, and failure to thrive. The other main clinical manifestations were intellectual disability, spastic tetraparesis, truncal hypotonia, malnutrition, polyuria and polydipsia, ketotic hypoglycemia, dysmorphic facial features, strabismus, bicuspid aortic valve, and nephrolithiasis. The detailed biochemical, radiological, and metabolic evaluations were unremarkable. Chromosomal analysis confirmed a normal male 46,XY karyotype and the array comparative genomic hybridization analysis revealed no abnormalities. We identified a novel homozygous missense variant of c.246G>C (p.Met82Ile) in the TRIT1 gene, and the variant was confirmed by Sanger sequencing. The present case is the first report describing strabismus, ketotic hypoglycemia, nephrolithiasis, and bicuspid aortic valve in TRIT1-related COXPD35. This study expands the genotype-phenotype spectrum of TRIT1-related COXPD35.

This work was supported by the Scientific and Technological Research Council of Turkey (TUBITAK) [Grant No. 2170172] and funded by the Turkish Republic and the European Union. Reading comprehension is difficult to improve for children with dyslexia because of the continuing demands of orthographic decoding in combination with limited working memory capacity. Children with dyslexia get special education that improves spelling, phonemic and vocabulary awareness, however the latest research indicated that special education does not improve reading comprehension. With the aim of improving reading comprehension, reading speed and all other reading abilities of children with dyslexia, Auto Train Brain that is a novel mobile app using neurofeedback and multi-sensory learning methods was developed. With a clinical study, we wanted to demonstrate the effectiveness of Auto Train Brain on reading abilities. We compared the cognitive improvements obtained with Auto Train Brain with the improvements obtained with special dyslexia training. Auto Train Brain was applied to 16 children with dyslexia 60 times for 30 minutes. The control group consisted of 14 children with dyslexia who did not have remedial training with Auto Train Brain, but who did continue special education. The TILLS test was applied to both the experimental and the control group at the beginning of the experiment and after a 6-month duration from the first TILLS test. Comparison of the pre- and post- TILLS test results indicated that applying neurofeedback and multi-sensory learning method improved reading comprehension of the experimental group more than that of the control group statistically significantly. Both Auto Train Brain and special education improved phonemic awareness and nonword spelling. Publisher's Version Q4 WOS:000641341200001 PubMed ID: 33860699

Hypomelanosis of Ito is a rare heterogeneous neurocutaneous disorder often associated with central nervous and musculoskeletal system involvement. Herein, we report the first case of hypomelanosis of Ito in the literature presenting with unilateral dilation of Virchow-Robin spaces (VRS). A girl aged 16 years old presented with a 1-year history of headache. Her physical and neurological examinations were normal, except for the presence of unilateral cutaneous macular hypopigmented whorls and streaks on lower side of the right trunk and lower limb, termed as Blaschko's lines. She had mild deficits in cognitive and adaptive functioning. Hearing, renal, dental, ophthalmologic, metabolic, and cardiac assessments were normal. Brain magnetic resonance imaging (MRI) showed markedly unilateral hemispheric enlarged VRS without contrast enhancement and diffusion restriction. To the best of our knowledge, our case is the first report describing the unilateral hemispheric enlarged VRS in a patient with hypomelanosis of Ito. Our report suggested that hypomelanosis of Ito may have unilateral dilation of VRS in brain MRI.

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is the most frequent organic aciduria detected in newborn screening programs. It demonstrates a variable heterogeneous clinical phenotype, ranging from neonatal onset with severe neurological disorders to asymptomatic adult forms. Herein, we report the first 2 related cases of 3-MCC deficiency presenting with intracranial calcification in the literature. A girl and a boy aged 3 years, 9 months and 4 years were included in the study. The main clinical manifestations were acquired microcephaly, global developmental delay, intractable seizures, mild feeding difficulty, and intermittent dystonic contractions. On physical and neurological examinations, their weights, heights, and head circumferences were below the 3rd percentile, they had acquired microcephaly, truncal hypotonia, upper and lower limb spasticity, hyperreflexia, positive bilateral Babinski signs, and clonus. The detailed biochemical and metabolic tests were unremarkable, except blood 3-hydroxyisovalerylcarnitine (C5OH) was slightly increased in case 1. Cranial computed tomography demonstrated mild cerebral and cerebellar atrophy as well as bilateral periventricular and thalamic calcifications in both cases. We identified a homozygous mutation of c.1015G>A (p.V339M) in the MCCC2gene, and the mutation was confirmed by Sanger sequencing. To the best of our knowledge, our cases are the first reported describing intracranial calcification in cases with 3-MCC deficiency. This report expands on the underlying causes of intracranial calcifications and suggests that 3-MCC deficiency may have intracranial calcifications on bilateral thalamus and periventricular white matters. If clinical findings show intracranial calcification, 3-MCC deficiency should also be kept in mind.

Neuroimaging and electroencephalography (EEG) are commonly used for pediatric recurrent headache evaluation, although not routinely recommended. In this study, data of 517 children with recurrent headaches were analyzed to evaluate the diagnostic yield of neuroimaging and EEG. Neuroimaging was performed in 55% (n = 283) of children, 61% with magnetic resonance imaging and 39% with computed tomography. Abnormal findings were reported in 17% (n = 48), and 5% (n = 13) were significant abnormalities altering headache management. Among children with significant imaging abnormalities, 85% had alarming signs on history, physical, or neurological examination. The diagnostic yield of imaging was 0.7% (n = 2), picking a cavernous hemangioma and a giant arachnoid cyst. EEG was performed in 69% (n = 356) of children, significant findings were reported in 8% (n = 29), with sharp waves/spikes in 4.1% (n = 15), and intermittent focal slow waves in 3.9% (n = 14). EEG was diagnostic for epilepsy in 1.6% (n = 6) of children with recurrent headaches. When there are no red flags on history or physical examination, diagnostic yield of neuroimaging is low for pediatric recurrent headaches. EEG can be helpful in selective cases, and when performed during and at headache-free periods.

Amac: Hastanemize herhangi bir nedenle basvuran hastalarin yakinlarinin febril konvulziyon hakkindaki bilgi, kaygi ve dusunceleri degerlendirilmesi amaclanmistir. Gerec ve Yontemler: Calismaya 18-70 yas arasi 600 katilimci alindi. Katilimcilarin yas, egitim ve gelir seviyesi, febril konvulziyon hakkindaki bilgileri ve bilgi kaynaklari, kaygi durumlari sorgulandi. Bulgular: 382 katilimci (%63,6) FK’nin ne oldugunu bildigini beyan etmekle beraber sadece 101 (%16,8) katilimcinin tanimlamasi dogruydu. Benzer sekilde FK geciren cocuga nasil mudahale edecegini bildigini soyleyen 337(%56,2) kisinin ancak 31’inin (%5,1) bilgisi dogruydu. Egitim ve gelir duzeyi arttikca FK ve FK’ya nasil mudahale edilecegi hakkindaki bilgi de artmaktaydi. 227 (%37,8) katilimcinin bir yakini FK gecirmisti, 211 (%35,2) katilimci ise bizzat FK’ya taniklik etmisti ve taniklik edenlerin %80’i kaygilanmisti. FK’ya taniklik etmek ve mudahale konusundaki bilginin dogrulugu arasinda pozitif korelasyon mevcuttu. Yine katilimcinin bir yakini FK gecirdi ise nasil mudahale edecegi ile ilgili bilgisi artmisti. 449 (%74,8) katilimci FK’nin kalici bir hasar biraktigini dusunuyordu. Sonuc: FK saglik calisanlari icin sik karsilasilan benign bir klinik tablo olsa da ilk defa sahit olan hasta yakinlari icin cok urkutucu olabilir. Katilimcilarin FK hakkindaki bilgi duzeyi belirgin dusuk, kaygilari ise yuksek saptandi. Hasta yakinlarinin saglik calisanlari tarafindan egitimi faydali olacaktir.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare autoimmune peripheral nervous system disease characterized by progressive or relapsing symmetric weakness and sensory dysfunction. It may rarely cause cranial nerve neuropathy. Although cranial nerve involvement is rarer in CIDP than Guillain-Barré syndrome (GBS), it may occur in rapid-onset and relapsed courses. We present an 8-year-old boy with hypoglossal nerve involvement, which has not been previously described in children. No accompanying disorder or antibodies were identified. This report is the first case in the literature for hypoglossal nerve involvement in children with CIDP. This report expands on the phenotypic features of CIDP in children and highlights that CIDP may represent with hypoglossal nerve involvement in children.

Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare neuroinflammatory disorder. We aimed to retrospectively evaluate clinical and laboratory data and outcomes of 23 children diagnosed with OMAS in two children's hospitals between 2010 and 2021.There were 14 boys and 9 girls aged 4-113 months, median 24 months. Ten (43.5%) children had paraneoplastic causes: neuroblastoma/ganglioneuroblastoma (n = 9), acute lymphoblastic leukemia (n = 1). Three children had a postinfectious cause (upper respiratory tract infection in 2, EBV infection in 1) and two had a history of vaccination (varicella in 1, hepatitis A and meningococcal in 1). No underlying factor was identified in 8 (34.8%) children. Speech disorders were more frequent in patients with neural tumors than in those without (p = 0.017). Intravenous immunoglobulin and steroids were effective as initial treatment in most children. Rituximab resulted in at least mild improvement in all 6 children with persistent or recurrent symptoms. Nine (39%) children experienced at least one relapse. Neurological sequelae were detected in 13 (57%) children. There was no significant correlation between clinical characteristics and outcome, except for higher risk of relapse in case of incomplete recovery after first attack (p = 0.001).Acute lymphoblastic leukemia, vaccines against hepatitis A and meningococci can be included among antecedent factors in OMAS. Among clinical symptoms, speech problems might point to the likelihood of an underlying neoplasm in OMAS. Intravenous immunoglobulin and steroids may be chosen for initial treatment while rituximab can increase the chance of recovery in case of persistent or recurrent symptoms. The presence of relapse was associated with poor outcome.

We aimed to report a severe and rare pediatric rhabdomyolysis case associated with a dual viral infection.A 13 year-old, healthy girl presented with the complaints of fever, abdominal pain, weakness and dark-colored urine. She was diagnosed with rhabdomyolysis based on clinical signs and laboratory findings. The diagnosis was confirmed by serological tests and real-time polymerase chain reaction for Epstein-Barr virus (EBV) and cytomegalovirus (CMV), respectively. Other potential genetic, metabolic and infectious causes were evaluated meticulously but no evidence was found. This case is also important as it is the first reported case to our knowledge on rhabdomyolysis associated with EBV and CMV co-infection in children.The presented case experienced tetraplegia due to the severe muscular damage and muscle power returned to normal range after 3 months. This suggests that EBV and CMV may have exert synergistic effects leading to more severe inflammation and degeneration.ZIEL: Unser Ziel war es, einen schweren und seltenen Fall von Rhabdomyolyse im Kindesalter zu berichten, der im Zusammenhang mit einer Koinfektion mit zwei Viren auftrat. FALL: Ein 13-jähiges gesundes Mädchen kam mit Fieber, Bauchschmerzen, Schwäche und dunklem Urin zur Aufnahme. Anhand der klinischen Symptomatik und Laborergebnisse wurde die Diagnose Rhabdomyolyse gestellt. Mittels serologischer Tests und Real-Time-Polymerase-Kettenreaktion erfolgte der Nachweis von EpsteinBarr-Virus (EBV) und Zytomegalievirus (CMV) und die Bestätigung der Diagnose. Andere mögliche genetische, metabolische und infektiöse Ursachen wurden genauestens untersucht, ließen sich jedoch nicht nachweisen. Der Fall ist auch deshalb wertvoll, weil es sich um den ersten Fall von Rhabdomyolyse im Rahmen einer EBV- und CMV-Koinfektion in Kindsalter handelt. SCHLUSSFOLGERUNG: Im vorgestellten Fall kam es durch die schwere Muskelschädigung zu einer Tetraplegie. Bis zur Normalisierung der Muskelkraft vergingen drei Monate. Dies weist darauf hin, dass das EBV und CMV einen synergistischen Effekt ausgeübt haben könnten, der dann zu schwereren entzündlichen und degenerativen Reaktionen führte.

The aims of this study were to evaluate the demographic and clinical characteristics of children with epilepsy who discontinued their antiseizure medication (ASM), to determine potential predictors of seizure relapse, to calculate the rate of seizure relapse, and to detect long-term seizure outcomes.A total of 269 seizure-free children with epilepsy who were decided to discontinue their ASM and were followed up for at least 18 months after ASM withdrawal were retrospectively evaluated.The enrolled children had been followed up for a median of 46 months (range 18-126 months; IQR: 29-61) after ASM withdrawal and 90 (33.5%) of their seizures relapsed. The median time to seizure relapse was 8 months (range 0.23-117 months; IQR: 2-25). Seizure relapse occurred in 16.7% of the 90 children at 1 month, 45.6% at 6 months, 62.2% at 1 year, 74.4% at 2 years, and 94.4% at 5 years. Univariate logistic regression analyses revealed six predictors significantly related to relapse: age at first seizure, age at diagnosis of epilepsy, intellectual disability, EEG findings after ASM withdrawal, ASM tapering time, and number of seizures on ASM. In multivariate logistic regression analyses, age at first seizure, intellectual disability, and ASM tapering time were not significantly associated anymore. The other three remained independently predictive. Pharmacological control of seizures with monotherapy was restored in 93.3% of the children with seizure relapse.This study evaluated potential predictors of seizure relapse, some of which have rarely been evaluated in previous studies. Adolescent age at diagnosis, abnormal EEG findings after ASM withdrawal, and high number of seizures on ASM were associated with a higher risk of seizure relapse. Abnormal MRI findings such as malformations of cortical development and hydrocephalus may be potential biomarkers for the risk of seizure relapse.

Diffuse leptomeningeal glioneuronal tumor is characterized by hydrocephalus, leptomeningeal involvement in the absence of a primary parenchymal mass, and negative cerebrospinal fluid (CSF) cytology. It is an extremely rare and difficult tumor to diagnose as no mass can be biopsied and it mimics infectious, rheumatologic, and inflammatory pathologies. An 11-year-old girl presented with complaints of headache, vomiting, and double vision. On examination, there was papilledema. Initial MRI scanning did not yield any significant findings. Clinical progression was observed in four months in the follow-ups. The symptoms included seizures, gait disturbances, and severely increased intracranial pressure. The screening of the patient for infectious, rheumatologic, endocrinologic, and inflammatory pathologies was normal. CSF pressure was elevated without any malignancy. Repeated cranial MRI revealed hydrocephalus and pituitary expansion. Leptomeningeal thickening and contrast enhancement were observed in spinal MRI. After a negative dural biopsy, the patient was diagnosed with a spinal leptomeningeal biopsy. The authors believed that the prevalence of this rare pediatric tumor, diagnosed with a leptomeningeal biopsy, is underestimated as it has an insidious course and signs of increased intracranial pressure in the absence of a definite solid mass.

Children with chronic neurological diseases,including cerebral palsy(CP)are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease.This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey,wherein outpatients children with CP were included in the study.Data on patient and CP characteristics,concomitant disorders as well as vaccination status included in the National Immunization Program(NIP),administration and recommendation of influenza vaccine were collected at a single visit. A total of 1194 patients were enrolled.Regarding immunization records,the most frequently administrated and schedule completed vaccines were BCG(90.8%),hepatitis B(88.9%)and oral poliovirus vaccine (88.5%).MMR was administered to 77.3% and DTaP-IPV-HiB was administered to 60.5% of patients.For the pneumococcal vaccines,54.1% of children had received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age.The influenza vaccine, was administered only to 3.4% of the patients at any time and had never been recommended to 1122 parents(93.9%).In the patients with severe(grade 4 and 5)motor dysfunction,the frequency of incomplete/none vaccination of hepatitis B,BCG, DTaP-IPV-HiB,OPV,MMR were statistically more common than mild to moderate(grade 1–3)motor dysfunction(p = 0.003, p

INTRODUCTION: In this study, we aimed to revise the clinical, epidemiologic and prognostic features of childhood Guillain-Barré syndrome. METHODS: Thirty two children admitted to our hospital and diagnosed with Guillain-Barré syndrome between June 2007- November 2019 were enrolled in the study. We also administered clinical evaluation scale at onset, discharge, 1,3,6 and 12 months after discharge. RESULTS: The median age was 72.22 months (range from 6 to 202 months) with a male to female ratio of 1.46. Based on electrophysiological features; 22 patients were classified as acute inflammatory demyelinating polyradiculoneuropathy, 10 as acute motor axonal neuropathy. The incidence of cranial nerve involvement was 28.1 % and was related to lower clinical scale score at admission and discharge. Clinical scale scores were significantly different between axonal and demyelinating subgroups except for admission. At 12th month follow-up visit, 78.1% of patients were recovered without sequal. DISCUSSION AND CONCLUSION: We think that the most important predictor of morbidity is predicting the possible ventilatory support need during the follow up period. Short incubating period of antecedent infection and cranial nerve involvement will probably increase ventilatory support need. The prognosis was found to be significantly different between electrophysiological subtypes in our series, axonal forms being consistent with poor prognosis.

Objectives Collagen-VI-related myopathies are caused by both dominant and recessive mutations in the three collagen-VI-related genes (COL6A1, COL6A2, and COL6A3) and present as two different major clinical entities; Bethlem myopathy and Ullrich congenital muscular dystrophy. Methods In this study, we evaluated the clinical, pathologic, and genetic features of 8 patients with Bethlem myopathy from 3 families. Results We inspected disease course differences with age and mutations. Different variants in COL6A1 and COL6A2 genes were detected. Muscle MRI of the lower limbs showed a specific pattern of muscle involvement with variable severity of fatty infiltration. One family had essential hypertension. Conclusion Genotype-phenotype correlation studies are critical in determining gene or mutation-targeted therapies, patient follow-up, severity and progression prediction, and genetic counselling.

Multiscale entropy analysis (MSE) is a novel entropy-based approach for measuring dynamical complexity in physiological systems over a range of temporal scales. MSE has been successfully applied in the literature when measuring autism traits, Alzheimer's, and schizophrenia. However, until now, there has been no research on MSE applied to children with dyslexia. In this study, we have applied MSE analysis to the EEG data of an experimental group consisting of children with dyslexia as well as a control group consisting of typically developing children and compared the results. The experimental group comprised 16 participants with dyslexia who visited Ankara University Medical Faculty Child Neurology Department, and the control group comprised 20 age-matched typically developing children with no reading or writing problems. MSE was calculated for one continuous 60-s epoch for each experimental and control group's EEG session data. The experimental group showed significantly lower complexity at the lowest temporal scale and the medium temporal scales than the typically developing group. Moreover, the experimental group received 60 neurofeedback and multi-sensory learning sessions, each lasting 30 min, with Auto Train Brain. Post-treatment, the experimental group's lower complexity increased to the typically developing group's levels at lower and medium temporal scales in all channels.

Introduction Thrombosis is rare in children and antithrombolytic treatment is controversial. Most commonly used thrombolytic agent is tissue plasminogen activator (t-PA) in pediatrics. In this study, we report our experience in the use of thrombolytic treatment. Methods Eighteen patients who had received systemic t-PA between January 2006 and December 2013 were recorded. The response to t-PA was evaluated as complete, partial, and no. The bleeding complication during t-PA administration was graded as minor or major. Results There were 18 patients (2 mo to 12 y) who received systemic t-PA. Three patients had venous, 14 patients had arterial, and 1 patient had intracardiac thrombosis. Thrombosis was related to cardiac catheterization (61.1%), central venous catheterization (16.7%), cardiac surgery (11.1%), and arrhythmia (5.5%). In 1 patient thrombosis occurred spontaneously (5.5%). Eighteen patients received 25 courses of systemic t-PA (0.15 to 0.3 mg/kg/h). A total of 55.6% of cases had complete, 27.8% had partial, and 16.6% showed no resolution. Conclusion t-PA infusion at doses of median 0.2 mg/kg/h (0.15 to 0.3) seems effective and safe. There is still no consensus on indications and dosing of antithrombolytic treatment in children but in selected patients it decreases long-term complications due to thrombosis.

Sialorrhea is a frequent problem and may lead to aspiration in patients with swallowing dysfunction. We aimed to assess the effectiveness and safety of sublingual atropine sulfate treatment in pediatric patients with sialorrhea. The medical records of patients who had received sublingual atropine sulfate between January 2015 and January 2016 were reviewed retrospectively. The demographic properties, diagnosis, invasive or noninvasive mechanical ventilation need, and the presence of tracheotomy were assessed. Response rates to sublingual atropine were measured using the Teacher Drooling Scale (TDS). Pre and post-treatment drooling scores were compared. Atropine sulfate ampoule was administered at 20 µg/kg/dose. Minimum dose was 0.25 mg, while maximum dose was 0.03 mg/kg.Thirty-five pediatric patients with sialorrhea who had received sublingual atropine sulfate were identified; however, TDS scores had been recorded in only 20 of them. The median age of the patients was 25 months (3–78 months; 7 girls, 13 boys). Sixteen (80%) patients were on invasive mechanical ventilation and seven (30%) had tracheotomy. Nineteen patients had a neurodevelopmental disorder and only one patient had oral and esophageal lesions due to corrosive material intake. The median TDS score prior to sublingual atropine sulfate treatment was 5, and it decreased to 3 on the second day of treatment, a change that was statistically significant (p

Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare mitochondrial disorder characterized by MLASA. Variable features of this condition include failure to thrive, and developmental delay or intellectual disability. Additional symptoms consist of cognitive impairment, skeletal and dental abnormalities, delayed motor milestones, cardiomyopathy, dysphagia, and respiratory insufficiency. MLASA has previously been associated with mutations in pseudouridylate synthase 1 (PUS1) and YARS2. PUS1 encodes the nuclear PUS1 enzyme, which is located in both the nucleus and the mitochondria. PUS1 converts uridine into pseudouridine in several cytosolic and mitochondrial transfer RNA positions and increases the efficiency of protein synthesis in both compartments.In the present report, we report on 2 Turkish sisters 4 and 11 of years with an MLASA plus phenotype. Both patients have sideroblastic anemia, lactic acidosis, failure to thrive, developmental delay, and chronic diarrhea; in addition, the older sister has strabismus and skeletal anomalies. The sequencing of the PUS1 gene revealed a novel homozygous p.Glu311* mutation. The phenotype of the older sibling is also unique because of the strabismus and skeletal anomalies, when compared with her sister and other previously reported patients with MLASA. The structural differences in the nuclear versus mitochondrial isoforms of PUS1 and modifier genes may be implicated in the variability of the clinical presentations in MLASA. Conclusion This report adds to the growing number of mutations causing complex clinical manifestations of MLASA including lactic acidosis, sideroblastic anemia, chronic diarrhea, and myopathy.

Objective This study aims to retrospectively evaluate the long-term efficacy, tolerability, and safety of therapeutic plasma exchange (TPE) in children with various neuroimmunological disorders. Methods This analysis was a single-center, retrospective cohort study of pediatric patients with neuroimmunological events undergoing TPE procedures in a tertiary referral center. Results There were 23 patients, 14 boys (60.9%), aged at diagnosis onset 8 months to 16.8 years. The main indications of TPE were Guillain-Barre syndrome (GBS, n = 8), autoimmune encephalitis (n = 5), febrile infection-related epilepsy syndrome (FIRES, n = 4), and acute disseminated encephalomyelitis (ADEM, n = 3). There was no life-threatening complication due to the TPE procedures. Eight (34.8%) of 23 patients experienced 13 (7%) complications in 186 TPE procedures, mostly electrolyte disturbances (n = 5). None of patients discontinued TPE due to complications. Two (8.7%) of 23 patients had marked improvement, 6 (26.1%) had moderate and 11 (47.8%) had mild improvement after TPE. The last follow-up visit revealed neurological sequelae in 12 (52.2%) patients. Therapeutic plasma exchange was found to be more effective on GBS, autoimmune encephalitis and myasthenia gravis, less effective on ADEM and FIRES. There was no correlation between improvement with TPE and clinical parameters, including age, sex, diagnosis, disease duration before TPE, presence of intubation, and length of stay in the intensive care unit and hospital. Conclusion Therapeutic plasma exchange was found to be effective and well-tolerated in children with various types of neuroimmunological disorder, with at least mild improvement in approximately 80% of the patients and no life-threatening complications.

Objectives Levetiracetam (LEV) is a second-generation antiepileptic drug with high efficacy and tolerability in children and adults with epilepsy. We aimed to retrospectively assess the long-term efficacy, tolerability, and safety of LEV monotherapy in children with epilepsy. Methods All patients who received LEV monotherapy at the Ankara University Children Hospital between January 2010 and June 2020 were evaluated. This retrospective pediatric cohort study determined the efficacy and safety of LEV monotherapy in 281 outpatients with epilepsy. Results There were 281 patients, 50.5% female, aged 5 months to 18 years with a mean age of 9 years. Of these, 48% of patients had idiopathic epilepsy, 40.6% had symptomatic epilepsy, and 11,4% had cryptogenic/genetic epilepsy. Primary generalized seizures occurred in 61.6% of patients, focal seizures in 19.6%, both generalized and focal seizures in 15,3%, focal to bilateral tonic-clonic seizures in 2.5%, and undefined type of seizure in 1.1%. A total of 22.8% patients had an accompanying extra neurological disease, mostly cardiological and hematological. The range of final daily dose was 10–71 mg/kg/day, with mean 29.5 mg/kg/day. Duration of therapy ranged from 7 days to 96 months, with median 12 months (IQR: 6–22). For the all cohort, a 6th month retention rate was 81%, a 12th month retention rate was 71.4%, and a 24th month retention rate was 61.8%. Eighty five percent of the patients had a seizure reduction of at least 50% and 55.9% of patients remained seizure-free for median 12 months treatment duration with LEV monotherapy. Improvement of electroencephalography (EEG) findings was found in 42% of patients on control EEGs. A total of 67 adverse events were documented in 45 (16%) patients. The most common adverse events were behavioral problems such as aggression (n:18) and irritability (n:17). The discontinuation rate due to adverse events was 2.5%, and due to inefficacy was 5.3%. Conclusion The present study suggests that the high retention rates, high percentage of seizure reduction, the low discontinuation rate due to adverse events and inefficacy, and the relatively benign and transient profile of adverse events make LEV preferable as monotherapy in the pediatric population.

Miller Fisher syndrome (MFS) is characterised by the triad of ophthalmoplegia, ataxia, and areflexia. A case with external ophthalmoplegia and absence of ataxia and areflexia until the end of second week is presented. Electrophysiological findings became apparent after the third week and showed reduced amplitudes of sensory nerve action potentials and prolonged latencies of F with no evidence of conduction blocks. There was no response to intravenous immunoglobulin, but there was response to corticosteroids. This case may represent an atypical MFS with late presenting electrophysiological abnormalities. Corticosteroids can be a therapeutic option when intravenous immunoglobulin fails to control clinical symptoms.

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.

Hashimoto's encephalopathy (HE) is a rare, poorly understood, progressive and relapsing, steroid-responsive multiform disease. HE presents with subacute cognitive dysfunction, psychiatric symptoms, seizures, and movement disorders. The disorder is usually related to thyroid disease and the most frequent feature is the presence of anti-thyroperoxidase antibodies. Patients are generally euthyroid or mildly hypothyroid. The clinical features of two patients at presentation included refractory seizures and confusion, another patient had behavioral problems and altered cognitive status, one patient presented with right-sided weakness and numbness especially in his leg and tongue, dysphagia, speech disorder, aggressiveness, nightmares and nocturnal enuresis and last patient had focal seizures with altered mental status. All patients manifested increased anti-thyroid antibodies. Four patients improved with steroid treatment, and one of the patients responded to plasmapheresis instead of corticosteroid treatment. Physicians' awareness of this complication is of great importance because HE is a highly treatable condition among children and adolescents.

Amac: Optik gliomlar histolojik olarak benign ozelliklidirler ve iyi yonde farklilasma gosteren pilositik astrositom sinifinda yer alirlar. Tumorun histopatolojik ozelligi, yerlesim yeri, hastanin yasi, Norofibromatozis tip-1 ile birlikteligi sagkalim oranlarini etkileyen onemli prognostik belirteclerdir. Kemoterapi tedavide en onemli secenektir ve klinisyenlerin hedefi radyoterapiden olabildigince uzak durmaktir. Radyoterapi ve cerrahiden uzak kalinmasina zemin hazirlayan, uzun doneme yayilan guvenli bir tedavi plani olan vinkristin ve karboplatin kombinasyonu ilk secenek standart tedavi yaklasimlarindan biridir. Ancak bu tedaviler altinda refrakter seyreden hastalara sistemik yan etkisi az ve bir multi tirozin kinaz inhibitoru olan imatinib mesilat onemli bir secenek olarak eklenebilir. Cocuk hastalarda guvenli bir sekilde kullanilabilir. Bu alanda bildirilmis az sayida calisma olmasi nedeni ile imatinib mesilat kullanimina ait olumlu sonuclarimizi klinisyenlerle paylasmak istedik. Gerec ve Yontemler: Cocuk Onkoloji klinigimizde 2007-2017 yillari arasinda tani alan toplam 16 optik gliom hastasi calismaya dahil edildi. Bulgular: Iki kur vinkristin, karboplatin kombinasyonu sonrasi klinik ve radyolojik olarak progresif seyreden hastalara stabil hastalik veya regresyon bulgulari elde edilene kadar 1-2 yil sure ile imatinib (270 mg/m² oral) tedavisi eklenildi. Tedavi alan hastalarin median izlem suresi 7 yil (5-10)’di. Dort hastada tam yanit, iki hastada stabil hastalik bulgulari saglanildi. Hastalarimizda imatinib iliskili bir yan etki gorulmedi. Sonuc: Imatinib tumorun kapiller endotellerinden ozellikle PDGFR- α ve β’nin ekspresyonunu inhibe ederek etki eder. Akilli hedef molekullerin tedaviye eklenilmesinin progresif hastalarda gec donemde yan etkileri fazla olan radyoterapiye olan ihtiyaci azaltacagini dusunuyoruz. Gelecekte uygulanabilecek bircok molekuler hedef ajan refrakter optik gliomlarin tedavisinde gundeme gelebilir ve cocuk hastalar cerrahi ve radyoterapinin yaratacagi komplikasyonlardan korunabilirler.

Subacute sclerosing panencephalitis is almost always fatal with a varying clinical course of illness. It is character ized by slow progression and rarely manifests with a fulminant and rapid course. Atypical presentations such as generalized seizures, visual loss, hemiparesis, non-convulsive status epilepti cus and isolated extrapyramidal symptoms can be observed rarely. We report an 11-year-old boy presenting with atypical symptoms initially such as complex partial seizures, chorea and ele ctrographic status epilepticus. The patient was lost within 5 months, which is suitable for a fulminant course. Children presenting with atypical acute or subacute neurologic symptoms should be examined for subacute sclerosing panencephalitis, especially if they have no risk factors for hereditary neurodegenerative and/or neurometabolic diseases.

We aimed to investigate whether prothrombotic risk factors are more common in pediatric patients suffering from migraine than in the general population and compare the efficacy of prophylactic treatment with acetylsalicyclic acid (i.e., aspirin) and propranolol to ascertain whether acetylsalicyclic acid has additional efficacy over propranolol in migraine patients because of its antiplatelet property. Twenty-eight children aged 6 years through 16 years old affected by migraine with and without aura were included in the study. Factor V Leiden mutations, prothrombin 20210 mutations and factor VIII, factor IX, von Willebrand factor, antithrombin III, fibrinogen, homocysteine and lipoprotein A levels were determined. With the exception of antithrombin III deficiency, there was no increased prothrombotic risk factor in our migraine patients as compared to controls. Propranolol was clearly superior to acetylsalicyclic acid in decreasing the number of attacks. The duration and severity of headaches were also decreased in the propranolol group but this was not statistically significant. Therefore, we conclude that if there is no family history of stroke and/or if the patient does not have complicated migraine, routine investigation for prothrombotic risk factors is not indicated in children with migraine. Propranolol can be recommended as a first line drug for the prophylaxis of childhood migraine.

Sinovenous thrombosis is very rare in the pediatric population especially beyond neonatal period. This condition can be related to various etiologies depending upon patient’s age. In this case report, we present a child with sinovenous thrombosis secondary to Behcet’s disease. This 15-year-old male was admitted to our hospital with headache after he was followed for uveitis and recurrent oral aphthous ulceration. Since the cerebrospinal fluid pressure was 58 cm H 2 O and there was no lesion on cranial computed tomography and magnetic resonance imaging, he was first diagnosed as pseudotumor cerebri. In spite of acetazolamide therapy and intermittent lumber punctures, his symptoms and high cerebrospinal fluid pressure persisted. Three weeks later cranial computed tomography with contrast was performed again and thrombosis was seen in the transverse and sagittal sinuses. He was treated successfully with heparin and steroid therapy.

Subcutaneous interferon beta 1a (IFN β 1a) has been shown to reduce relapse rates in patients with relapsing-remitting multiple sclerosis. We report the occurrence of severe necrotizing cutaneous reactions in a 19-year-old girl. She self injected IFN β 1a three times a week on the abdomen and both thighs. Treatment was initially well tolerated, but she described erythematous patches and local pain at the injection sites recently. The areas on the abdomen became violaceous with necrotic ulcers. Her therapy was changed to 0.5 mg fingolimod. The lesions began to improve and cicatrize after several weeks with postinflammatory hyperpigmentation. Early recognition of severe local adverse reactions and correction of the injection technique is important.

This study dealt with the electroencephalograms (EEGs) of 187 children with learningdisability. Special attention was given to interictal epileptiform discharges. The patients who had interictal epileptiform discharge in their EEG was labeled as spike group, in contrast with those without such activity as the control group. In the whole group, 45.9% were completely normal and an additional 10.6% had positive spikes as the only finding. Epileptiform activity was seen in 32%, mainly focal (mostly centrotemporal or occipital) less often generalized, with bilaterally synchronous spike and waves complexes seen in 13 children. Slow wave abnormalities (mainly frontal or temporal), nearly always mild in degree, were seen mainly in the spike group. These different findings suggest that learning disability is a condition often with organic changes in the form of EEG abnormality, at times with epileptiform activity that could contribute to a deficit in learning.

Theophylline poisoning generally occurs due to acute high dose intake as well as chronic intake of the medication. Toxicity symptoms can be seen with a plasma concentration of theophylline over 20 µg/ml. The consequences of theophylline toxicity include metabolic disturbances (hypokalemia, hyperglycemia, and metabolic acidosis), nausea, vomiting, and in severe cases seizures, cardiac arrhythmias, and death. Theophylline poisoning in children is rarely described in the literature. A 3-year-old girl was referred from another hospital to our pediatric intensive care unit (PICU) due to prolonged refractory status epilepticus and respiratory failure linked with severe theophylline poisoning. The patient was admitted to our PICU 24 hours after the patient took theophylline. The referring center could not measure the serum theophylline level. The patient’s first serum theophylline level that was checked at admission was 54 µg/ml. We started continuous venovenous hemodialysis (CVVHD) 3 hours after PICU admission and the patient’s theophylline level successfully decreased within 9 hours. The patient was discharged at the 40th day of admission from our hospital with severe neurological disability. In conclusion, severe theophylline poisoning may be seen in children. We must consider CVVHD in critically ill children with severe theophylline poisoning. © 2016, Turkish Journal of Pediatrics. All rights reserved.

The aim of the study was to evaluate the demographic, clinical, and EEG characteristics of patients with Panayiotopoulos syndrome (PS) and the course of their illness. Thirty-eight patients followed up with a diagnosis of PS between January 2011 and December 2013 were evaluated. We found high rates of personal history of febrile convulsions, breath-holding spells, and family history of febrile convulsions, afebrile convulsion/epilepsy, migraine, and breath-holding spells. Seizures started before the age of eight in 87% of the patients, and the mean age at seizure onset was 4.6 years. Seizures were sleep-related in 81.5%, and autonomic status was seen in a third of the patients. The number of seizures was between 2 and 10 in 66% of the patients. The most common symptoms were ictus emeticus, eye/head deviation, and altered consciousness. Rolandic features were seen in 26% of the patients, and visual symptoms in 5%. Multifocal epileptiform discharges on EEG were identified in 84% of the patients. Two or more antiepileptic drugs were required in only 13% of the patients. Evolution to electrical status epilepticus in sleep and Gastaut-type epilepsy were seen in patients with more than ten seizures. The high rates of febrile convulsions, afebrile convulsions/epilepsy, migraine, and breath-holding spells in the patients and families suggest the importance of genetic factors and, perhaps, a common pathogenesis. However, the high rates of febrile convulsions and breath-holding spells in patients can be related to a misdiagnosis because of the similar symptoms. Despite its disturbing symptoms, PS is a benign epileptic syndrome requiring multiple antiepileptic drug use only in a small proportion of patients.

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.

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.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.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 (p0.05). Eighty-nine percent of cases who were sedated with CH and 89.6% of cases who sedated with hydroxyzine were able to sleep (p0.05). The background rhythm was faster with CH compared to hydroxyzine (p0.05). There were no association between the occurrence of fast background rhythm and the doses of CH.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.

Canavan Hastalığı Yahudi olmayan toplumlarda çok nadir görülen, otozomal resesif geçişli, ciddi, ilerleyici bir lökodistrofidir. Aspartoasilaz enzim yetmezliği sonucu gelişmektedir. Makrosefali, hipotoni, nöromotor gelişme geriliği en sık görülen bulgularındandır. Altıncı ayda psikomotor gelişim durur ve bunu hiperekstansiyon atakları izler. Manyetik Rezonans Spektroskopi (MRS) incelemesi yüksek duyarlılığı ve özgüllüğü nedeniyle hastalığın tanısında oldukça değerlidir. Tedavisi olmamakla birlikte, tanının kesinleştirilmesi ve diğer tanıların ekarte edilmesi açısından Manyetik Rezonans görüntüleme (MRG) ve MRS önemlidir., Canavan disease is an autosomal recessively inherited severe progressive leukodystrophy and is rarely seen in nonJewish communities. It results from the deficiency of the aspartoacylase enzyme. The most common findings are macrocephaly, hypotonia, and neuromotor retardation. Psychomotor development ceases and hyperextension attacks follow in the sixth month. Magnetic Resonance Spectroscopy (MRS) is of high value in the diagnosis of this disease because of its high sensitivity and specificity. Although the disease has no treatment, Magnetic Resonance Imaging (MRI) and MRS are important for confirming the diagnosis and eliminating other disorders

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). 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. 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.

Platelet-dependent thromboembolism is an underlying mechanism in the pathogenesis of stroke. 5-HT2A receptor gene is expressed in human platelet, coronary artery (blood vessels) and brain. A polymorphism T102C at the 5-HT2A receptor gene was found that may possibly affect the 5-HT2A receptor function. As there is no existing data on T102C variant of 5-HT2A receptor gene in pediatric stroke, we aimed to study in this case-control study whether there is a association between this polymorphism and pediatric stroke. 111 patients (10 months-18 years old) with cerebral infarct and 79 healthy control was included to our study. Polymerase chain reaction (PCR) of the T102C alteration at the 5-HT 2A receptor gene was performed. Our data revealed that, 5-HT (2A) receptor T102C polymo phism was not associated with pediatric stroke in our population either alone or in combination with underlying pro thrombotic factors. However, this needs to be clarified with further studies.5-HT2A reseptör genindeki T102C polimorfizmi muhtemelen bu reseptörün fonksiyonlarını etkilemektedir. Pediatrik inmede 5-HT2A reseptör genindeki T102C varyantı ile ilgili mevcut bilgi olmadığı için çalışmamızda; bu polimorfizm ile pediatrik inme arasında ilişki olup olmadığını araştırmayı amaçladık. Serebral inme öyküsü olan 111 çocuk (10 ay-18 yaş) ve 79 sağlıklı kontrol çalışmaya dâhil edildi. 5-HT2A reseptör genindeki T102C değişimi PCR tekniği ile çalışıldı. Sonuç olarak; bu polimorfizm ne tek başına ne de diğer altta yatan protrombotik faktörlerle birlikte değerlendirildiğinde pediatrik inme ile ilişkili bulunmadı, ne var ki bu bilgi daha sonraki çalışmalarla da aydınlatılmalıdır.

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.

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 years, (0–18 years old) were followed up with a mean period of 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 (). 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 ().Conclusion. With this study we showed that the right prophylaxis for right patients reduces the rate of recurrence.

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.

Background Optic neuritis in children may be an isolated, usually postinfectious event, or the symptom of a more widespread disorder. Aim To investigate the etiological spectrum of optic neuritis in children in association with diagnostic findings and follow-up results. Methods We retrospectively examined the records of 31 children aged 4–15 (mean 9.7 ± 2.9) years in whom isolated optic neuritis was the presenting neurological symptom. Results Monophasic bilateral optic neuritis was the most common presentation (45%), followed by the unilateral (32%) and recurrent (22%) forms. Initial cranial MRI was abnormal in 12/31 patients. During a mean follow-up of 2.2 years (6 months–15 years), 6/14 bilateral cases, 9/10 unilateral and 5/7 recurrent cases were diagnosed with various disorders including total eight with MS. The MS group tended to start with unilateral optic neuritis, was older (mean 11.6 ± 1.5 vs. 8.8 ± 2.9 years), and included more girls than the other groups. Conclusions Optic neuritis in children is frequently part of a systemic or neurological disorder even in the presence of normal cranial imaging. These patients should be evaluated and followed-up in pediatric neurology clinics.

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.

BACKGROUND AND PURPOSE: Myelin instability and citrullinated myelin basic protein have been demonstrated in the brains of patients with chronic and fulminating forms of multiple sclerosis (MS). Our aim was to trace citrulline in the brains of patients with early-onset MS by using proton MR spectroscopy ( 1 H-MR spectroscopy). MATERIALS AND METHODS: A short-echo single-voxel 1 H-MR spectroscopy by using the point-resolved proton spectroscopy sequence was performed in 27 patients with MS and 23 healthy subjects. Voxels of interest were chronic demyelinating lesions (CDLs, n = 25) and normal-appearing white matter (NAWM, n = 25) on T2-weighted imaging, and when available in patients with MS, enhancing demyelinating lesions (EDLs, n = 8). Frontal white matter (WM) was studied in control subjects. N -acetylaspartate, choline, and myo-inositol (mIns)-creatine (Cr) ratios and the presence of a citrulline peak were noted. RESULTS: Citrulline peaks were more frequently observed in patients with MS than in control subjects ( P = .035), located in the NAWM in 8/25 (32%), in CDLs in 7/25 (28%), and in EDLs of 1/8 (12.5%) patients with MS. The presence of citrulline and measured metabolite/Cr ratios was not related to age at imaging, age at disease onset, duration of disease, or number of relapses. There was no significant metabolic difference between the NAWM of patients with MS and the WM of the control subjects. mIns/Cr was significantly greater in CDLs compared with the NAWM of patients with MS and the WM of healthy subjects. CONCLUSIONS: Citrulline was more frequently identified in the brains of patients with early-onset MS than in healthy subjects by 1 H-MR spectroscopy, suggesting an association of increased citrullination of myelin proteins with demyelinating diseases.