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Background:Non-epileptic paroxysmal events (NEPE) refer to physiological or exaggeratedphysiological responses caused by parasomnias, movement disorders, behavioralor psychiatric disorders and hemodynamic, respiratory and gastrointestinal dysfunctions.In the present study detailed data were provided on the demographic features ofNEPE based on five-years of clinical experience and observation. Materialsand Method: The medical records of 200 patients diagnosed with NEPE wereinvestigated retrospectively. The distribution of NEPE was evaluated based onage and sex. Results:Our study demonstrated that 23,5% of patients with NEPE had already beenfollowed with a diagnosis of epilepsy. 34 (45.4%) patients aged 2 months to 4(11/12)years were diagnosed with breath holding spells. PS was the most commondiagnosis (32.5%) in general. Themean age in PS was 11.25 ± 3.42 years. 38 (58.5%) of them were female, and 27(41.5%) were male. Some 28 (43.1%) PS were diagnosed from the amateur cameraimages taken by families; 20 (30.1%) were diagnosed from video-EEG monitoring;while the physician witnessed a seizure first-hand in 17 (26.2%) of thepatients.Conclusion:The form and frequency of NEPE in children vary with age. PS was the mostcommon diagnosis in accordance with the literature. In contradistinction to previosstudies breath holding spell was found to be the most common NEPE in earlychildhood period for this study population.

Moebius sendromu, diğer adıyla Moebius sekansı, doğuştan yüz ve göz sinirlerinde felç ile belirgin, ilerleyici olmayan bir kraniyal disinnervasyon bozukluğudur. Emmede zayıflık ve yüz felci nedeniyle izlenen, in vitro dölleme ile oluşan gebelik sonucu doğan, beş günlük kız hastaya iki taraflı pitoz ve dışa bakış kısıtlılığı, dilde sola kayma, dismorfik yüz görünümü, sol el parmak ve tırnaklarında hipoplazi bulguları ile birlikte Moebius sendromu tanısı konuldu. Bu sendroma üç, dört, beş, dokuz, 10 ve 12 gibi ek kraniyal sinir tutulumu, kol ve bacak gelişim anomalileri de eşlik edebilir. Etiolojide bir çok etmen öne sürülmekle beraber yardımcı üreme tekniklerine bağlı nadir olgular bildirilmiştir. Hastalarda beslenme güçlüğü ve aspirasyon sorunları süt çocukluğu döneminde karşılaşılan başlıca sorunlardır. Yüz felci ile doğan yenidoğan diğer kraniyal sinirler bakımından da ayrıntılı muayene edilmeli, ayırıcı tanıda Moebius sendromu ile birlikte diğer kraniyal disinnervasyon bozuklukları göz önünde bulundurulmalıdır., Möbius' syndrome, also known as Möbius' sequence, is a nonprogressive cranial dysinnervation disorder characterized by congenital facial and abducens nerve paralysis. Here, we report a 5-day-old girl who was conceived after in vitro fertilization with poor suck and facial paralysis. She had bilaterally ptosis and lateral gaze limitation, left-sided deviation of the tongue, dysmorphic face, hypoplastic fingers and finger nails on the left hand, and was diagnosed as having Möbius' syndrome. Involvement of other cranial nerves such as three, four, five, nine, 9 and 12, and limb malformations may accompany this syndrome. However, several factors have been proposed for the etiology, some rare cases have also been reported with artificial reproductive technologies. Feeding difficulties and aspiration are the main problems encountered in infancy. The other cranial nerves should be examined further in newborns who present with congenital facial palsy, and other cranial dysinnervation disorders should be considered in the differential diagnosis.

Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant death at 19 months. His second 4-year-old sister’s echocardiographic examination revealed hypertrophic cardiomyopathy, also suffering from easy fatigability. Her tandem MS spectrometry analyses resulted in CUD. We sequenced all the exons of the SLC22A5 gene encoding the high affinity carnitine transporter OCTN2 in the DNA. And one new mutation (c.1427T>G → p.Leu476Arg) was found in the boy and his sister in homozygous form, leading to the synthesis of an altered protein which causes CUD. The parent’s molecular diagnosis supported the carrier status. In order to explore the genetic background of the patient’s dysmorphic appearance, an array-CGH analysis was performed that revealed nine copy number variations only. Here we report a novel SLC22A5 mutation with the novel hallmark of its association with dysmorphologic feature.

Everything for healthy life as well as education and training at school, in which our children spend most of their time, is in the scope of school health,. Although there are some hopeful practices about school health in our country, the prevalence and decisiveness of these efforts have not been at the desired level. If school health services, which are the important part of the preventive health services, are well-planned and perform systematically and insistently on this topic, one of the biggest steps in order to achieve for the goal of a healthier society would have been achieved., ÖzetÇocuklarımızın hayatının büyük bir kısmının geçtiği okulda, eğitim ve öğretim yanısıra sağlıklı yaşam için yapılacak herşey okul sağlığı kapsamındadır. Ülkemizde okul sağlığı konusunda bazı ümit verici uygulamalar olup bu çabalarınyaygınlaşması ve devamlılık arzetmesi istenen düzeyde olamamıştır. Koruyucu sağlık hizmetlerinin önemli bir parçasıolan okul sağlığı hizmetleri, sistemli bir şekilde planlanıp uygulanır ve devamlılık arz ederse daha sağlıklı bir toplumhedefine ulaşmak için büyük adımlardan birini atılmış olur.

Nonepileptik paroksismal olaylar (NEPO); parasomnialar, hareket bozuklukları, davranışsal ya da psikiyatrik rahatsızlıklar veya hemodinamik, solunumsal, gastrointestinal disfonksiyonlardan kaynaklanan fizyolojik ya da abartılı fizyolojik yanıtlardır. Çocuklarda NEPO'ların görülme şekli ve sıklığı yaşa göre değişkenlik göstermektedir. NEPO'ların büyük çoğunluğunu psikojen nöbetler (PN) oluşturmakta ve çocuklarda artan yaş ile beraber sıklığı artmaktadır. Psikojen ve epileptik nöbetlerin (EN) klinik olarak ayırımını yapmak genelde güçtür. Bu nedenle PN'in tanısında ayırt edici özelliklerin belirlenmesine ihtiyaç vardır. Bu çalışmada NEPO'ların geriye dönük olarak incelenmesi bununla beraber PN tanısı konulan hastalar ile epileptik hastaların nöbet semiyolojileri karşılaştırılarak ayırıcı tanıda yeni ve farklı bilgiler ortaya konabilmesi amaçlandı.Materyal ve method: Ağustos 2005-Şubat 2010 tarihleri arasında Ondokuz Mayıs Üniversitesi Çocuk Nöroloji polikliniğine başvuran ve NEPO tanısı konulan 200 hastanın dosyası retrospektif olarak incelendi. NEPO'ların dağılımı yaş ve cinsiyete göre değerlendirildi. PN tanısı alan 65 hastanın nöbet semiyolojilerinin özellikleri değerlendirilerek epileptik hastalardan oluşan kontrol grubu ile karşılaştırıldı.Bulgular: Nonepileptik paroksismal olay tanısı alan hastaların %23,5'ünün önceden epilepsi tanısı ile takip edildiği saptandı. NEPO'lar içinde en sık görülen tanı PN idi. 2 ay-4^(11/12)yaş arasındaki olgularda en sık görülen tanı katılma nöbeti, 5- ? 11 ? ^(11/12) yaş ve 12-18 yaşları arasında en sık görülen tanı PN idi. Nöbetin 2 dakikadan uzun sürmesi, çevre seçme, atonik düşme, gözlerin nöbet esnasında kapalı olması, yumruk sıkma özelliklerinin PN'e özgül semiyolojik özellikler olduğu görüldü. Anlamsız gülümseme, ağız şapırdatma, yalanma, postiktal idrara sıkışma ve postiktal uyumanın EN'e özgül semiyolojik özellikler olduğu görüldü.Sonuç: Epilepsi tanısı ile takip edilen ve tedaviye yanıt vermeyen hastalarda daima olası tanı olarak NEPO'lar akılda tutulmalıdır. PN'ler erişkin hastalar kadar çocuklarda da sık görülen epilepsi ile karışabilen durumlardır. PN'i tanımak ve EN'ten ayırmak için spesifik semiyolojik özellik aramak yanlış olmayacaktır. Bizim çalışmamızda PN'li çocukların nöbet semiyolojilerine geniş bir yelpazeden bakılmış daha fazla sayı ve farklılıkta semiyolojik özellik araştırılmış ve epileptik hastalarla karşılaştırılma imkanı elde edilmiştir. Paroxysmal nonepileptic events (PNEs) are the physiological or exaggerated physiological responses caused by parasomnias, movement disorders, behavioral or psychiatric disorders and hemodynamic, respiratory and gastrointestinal dysfunctions. The form and frequency of PNEs in children vary according to age. The vast majority of PNEs are psychogenic seizures (PS) and their frequencies increase with age in children. Psychogenic and epileptic seizures (ES) are often difficult to differentiate clinically. Therefore, determination of distinctive features is needed in the diagnosis of PS. In this study, it was aimed to investigate PS retrospectively and provide new and different information in the differential diagnosis by comparing seizure semiologies of patients with PS and epileptic patients.Material and Method: The medical records of 200 patients who admitted to Pediatric Neurology Department of Ondokuz Mayıs University between August 2005 and February 2010 and were diagnosed with PNEs were investigated retrospectively. The distribution of PNEs was evaluated according to age and sex. The characteristics of seizure semiologies of 65 patients diagnosed with PS were evaluated and compared to control group consisting of epileptic patients.Results: Our study showed that 23.5% of the patients with PNEs had already been followed with the diagnosis of epilepsy. The most common diagnosis in PNEs was PS. The most common diagnosis was breath holding spell in 2 months-4^(11/12)years and PS in 5- ? 11 ? ^(11/12) years and 12-18 years. It was observed that seizure longer than 2 minutes, choosing the environment, atonic drop, closed eyes during the seizure and closing hands were the semiological features specific to PS and nonsense laughter, lip smacking, licking, postictal urinary urgency and postictal sleep were the semiological features specific to ES.Conclusion: PNEs are always should be kept in mind as a possible diagnosis in patients with epilepsy who don?t respond to treatment. PS may be confused with epilepsies which may be common in children as well as adults. Seeking specific semiological features for recognizing the seizure and distinguishing it from ES will be a useful behavior. In our study, seizure semiologies of the children with PS were broadly examined, more and different semiological features were investigated and a means of comparison with epileptic patients were provided. 97

BackgroundPseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early lethality. Clinically, PDD is classified as a ‘dysplasia with multiple joint dislocations’; however, the molecular aetiology of the disorder is currently unknown.MethodsWhole exome sequencing (WES) was performed on three patients from two unrelated families, clinically diagnosed with PDD, in order to identify the underlying genetic cause. The functional effects of the identified variants were characterised using primary cells and human cell-based overexpression assays.ResultsWES resulted in the identification of biallelic variants in the established skeletal dysplasia genes, B3GAT3 (family 1) and CANT1 (family 2). Mutations in these genes have previously been reported to cause ‘multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects’ (‘JDSCD’; B3GAT3) and Desbuquois dysplasia 1 (CANT1), disorders in the same nosological group as PDD. Follow-up of the B3GAT3 variants demonstrated significantly reduced B3GAT3/GlcAT-I expression. Downstream in vitro functional analysis revealed abolished biosynthesis of glycosaminoglycan side chains on proteoglycans. Functional evaluation of the CANT1 variant showed impaired nucleotidase activity, which results in inhibition of glycosaminoglycan synthesis through accumulation of uridine diphosphate.ConclusionFor the families described in this study, the PDD phenotype was caused by mutations in the known skeletal dysplasia genes B3GAT3 and CANT1, demonstrating the advantage of genomic analyses in delineating the molecular diagnosis of skeletal dysplasias. This finding expands the phenotypic spectrum of B3GAT3-related and CANT1-related skeletal dysplasias to include PDD and highlights the significant phenotypic overlap of conditions within the proteoglycan biosynthesis pathway.