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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

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.

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.

Objectives:The primary aim of this study was to compare depression, anxiety and alexithymia levels in children and adolescents with primary headache to the control group and to investigate the relationship between alexithymia and depression, anxiety levels. The second aim of the study was to compare maternal depression and anxiety levels between the case and the control groups.Materials and Methods:The study group was composed of 30 children and adolescents as a case group who were admitted to the Pediatric Neurology clinic of the Ankara University, with a diagnosis of primary headache. Thirty healthy children and adolescents matched in terms of age and sex were included in this study as a control group. All children and adolescents were applied Kiddie Schedule for Affective Disorders and Schizophrenia DSM-IV by the researcher. All children and adolescents participating in the study were assessed for The Children’s Depression Inventory and State-Trait Anxiety Inventory, Toronto Alexithymia scale and mothers completed Beck Depression Inventory and Beck Anxiety scale.Results:There was no significant difference among depression, anxiety and alexithymia levels in the case and control groups (p>0.05). The depression levels of mothers in the case group were significantly higher than in the healthy controls (p=0.01), whereas there was no difference in terms of anxiety levels (p=0.124).Conclusion:The higher levels of depression in mothers of children with primary headache show the importance of mothers’ psychiatric evaluation as well as the comorbid psychiatric disorders in children and adolescents. It should be kept in mind that the psychological support of the mother may be important for the prevention and treatment of children with primary headache.

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.

© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.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 outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation 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 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 was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1–3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians’ influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029). Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known:• Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections.• Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases.What is New:• Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly.• Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations.

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.

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

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.

The coronavirus disease 2019 (COVID-19) caused by SARS-CoV-2 appeared in Wuhan, China in December 2019 and quickly spread around the world and is considered a global pandemic. This disease, which is pre-infected with respiratory and cardiovascular system symptoms, can also occur in many organ systems. Since the beginning of the pandemic, cases related to neurological involvement have been reported in the literature and studies coercing neurological findings and complications have been published. COVID-19 can cause wide spectrum of neurological phenotypes from severe to milder. To the best of our knowledge, our case is the first report describing the chorea in a patient associated with COVİD-19. In this article, we aim to present a patient who was admitted with chorea on the 3rd day of the COVID-19 followed by Sydenham chorea, which had already improved. This report expands the phenotypic spectrum of COVID-19 and suggests that COVID-19 can be associated with or trigger chorea.

Dravet syndrome is a catastrophic progressive epileptic syndrome. De novo loss of function mutations on the SCN1A gene coding voltage-gated sodium channels are responsible. Disruption of the triggering of hippocampal GABAergic interneurons is assumed as the cause of fall in the seizure threshold. A ten-year-old boy first presented at age 10 months with febrile-clonic seizures, which began when he was aged 8 months. Electroencephalography was found as normal. Phenobarbital was initiated because of long-lasting seizures. However, his seizures continued and the therapy was replaced with valproic acid. On follow-up, different antiepileptics were used, which were stopped due to inefficiency or adverse effects. SCN1A gene analysis was performed and a heterozygous c.4018delC mutation was identified. This new frame-shift mutation resulting from an early stop-codon is thought to be the cause of the disease. Finally, he was prescribed valproic acid and stiripentol. For patients with fever-triggered, treatment-resistant seizures, and delayed psychomotor development, Dravet syndrome should be considered. Genetic diagnosis is important for treatment and follow-up.

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.

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.

PubMedID: 28694135 Objective To document the clinical and paraclinical features of pediatric multiple sclerosis (MS) in Turkey. Methods Data of MS patients with onset before age 18 years (n = 193) were collected from 27 pediatric neurology centers throughout Turkey. Earlier-onset (

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.

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.

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.

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

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.

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.

Stroke is defined as a sudden occlusion or rupture of cerebral arteries or veins resulting in focal cerebral damage and clinical neurologic deficits. Occlusion can be arterial or venous. The incidence of pediatric stroke is 8–10.7/ 100.000 children / year. The risk factors in childhood stroke are multiple and should be detected after the acute state.Since there are not randomized controlled studies for childhood stroke treatment the treatment is still controversial and relies on adult literature.

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 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.

Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. Recently, loss-of-function variants in the LAMA1 gene were identified in six probands with PBS. Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. Biallelic LAMA1 variants were identified in 14 families (93%). The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. Sixteen distinct variants were identified, which were all novel. In particular, the frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS.

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.Protein Z (PZ)’nin koagülasyonu artırıcı yönde etkisinin yanısıra antikoagülant olarak da rol oynadığı gösterilmiştir. G79A polimorfizminin Türk çocukluk çağı iskemi hastalarında incelendiği ilk çalışmadır. İskemik infarktüs geçiren 91 çocuk inme hastası ve 70 kontrol bu polimorfizm ve FVL, PT mutasyonları açısından incelenmiştir. ‘A’ alleli beş hastada (%5,5) homozigot olarak bulunurken yalnızca bir kontrolde (%1,4) homozigotluğu saptanmış ve çocukluk çağı inme için risk faktörü olarak görünmektedir [OR=3,94 (0,44-35,1)]. FVL ve PT mutasyonlarını taşıyan hasta ve kontroller çıkartıldığında AA genotipi yine risk getirmektedir [OR=3,88 (0,41-36,5)]. Ayrıca 21 inme hastası ve 52 kontrolde plazma protein Z düzeylerine bakılmıştır. Hasta (500,95 ngmL-1±158,35) ve kontrollerde (447,34 ngmL-1±165,97) plazma protein Z düzeyleri farklı bulunmamıştır. Ancak AA genotipi taşıyan hastalarda plazma protein Z düzeyi düşük bulunmuştur. Sonuçlarımız, 79 AA genotipini taşımanın çocukluk çağı iskemik infarktüs hastalarında genetik bir risk faktörü olabileceğini göstermiştir.

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.

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.

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. Conflict of interest:None declared.

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.

Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS), Senior-Loken syndrome and isolated Leber congenital amaurosis (LCA). Although these conditions are recessively inherited, in a subset of patients only one CEP290 mutation could be detected. To assess whether genomic rearrangements involving the CEP290 gene could represent a possible mutational mechanism in these cases, exon dosage analysis on genomic DNA was performed in two groups of CEP290 heterozygous patients, including five JSRD/ MKS cases and four LCA, respectively. In one JSRD patient, we identified a large heterozygous deletion encompassing CEP290 C -terminus that resulted in marked reduction of mRNA expression. No copy number alterations were identified in the remaining probands. The present work expands the CEP290 genotypic spectrum to include multiexon deletions. Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified.

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.

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 openning 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.