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Öğe Abnormal Findings in Neonatal Electroencephalography(Turkiye Klinikleri, 2019) Simsek, Erdem; Tekgul, HasanThe electroencephalography (EEG) of the neonatal period differs significantly from the EEG of the older child and adult. The electrical activity also varies depending on the conceptual age reflecting the maturation of the brain. This variability presents various evaluation challenges for neurologists. in this article, pathological findings (ground rhythm abnormalities and paroxysmal abnormalities) of EEG in newborn period are described.Öğe Acquired Demyelinating Syndrome: Single Center Experience(Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2019) Serin, Hepsen Mine; Simsek, Erdem; Kanmaz, Seda; Yilmaz, Sanem; Aktan, Gul; Tekgul, Hasan; Gokben, SarenurObjective: Acquired demyelinating syndromes are immune-mediated demyelinating disorders of the central nervous system. Clinical spectrum includes acute disseminated encephalomyelitis, optic neuritis, transverse myelitis, clinically isolated syndrome, and neuromyelitis optica. Aim of this study is to present the clinical features of patients followed up with the diagnosis of demyelinating disease other than multiple sclerosis and also our therapeutic experience. Method: Data of 30 patients with acquired demyelinating disease followed up in Ege University Department of Child Neurology between January 2013 and January 2018 were evaluated retrospectively. Demographic data, admission complaints, clinical and neuroimaging findings, laboratory results, ophthalmologic findings and treatments used were recorded. Results: The age of the patients ranged between 3, and 15 years and mean age was 8.76 +/- 3.59 years. The most common diagnosis was acute disseminated encephalomyelitis. The most common complaints were ataxia, headache, encephalopathy, plegia (mono+paraplegia), blurred vision and visual loss in order of decreasing frequency. Oligoclonal banding, and anti-aquaporin 4 antibody negativities were detected in all patients. Anti-myelin oligodendrocyte antibody-positivity was found in seven patients. In one of these patients tests were positive for both anti-aquaporin 4 and anti-myelin oligodendrocyte antibodies. Neuroimaging revealed findings consistent with cerebral white matter, spinal cord and optic nerve involvement. All patients were started on intravenous pulse methylprednisolone therapy during the acute episode Conclusion: Since childhood acquired demyelinating diseases may be the first episode of multiple sclerosis, it is important to perform detailed serological tests and CSF examinations for follow-up of patients, and differential diagnosis.Öğe Arterial ischemic stroke in childhood: Risk factors and outcome in old versus new era(Sage Publications Inc, 2007) Goekben, Sarenur; Tosun, Ayse; Bayram, Nuri; Serdaroglu, Gul; Polat, Muzaffer; Kavakli, Kaan; Tekgul, HasanRisk factors of children with arterial ischemic stroke were retrospectively evaluated. The children were grouped according to values on developing diagnostic tools: 13 in the old era (19871994) and 18 in the new era (1995-2004). The old era battery included 5 tests: protein C, protein S, antithrombin, lupus anticoagulants, and anticardiolipin antibodies. The new era battery added 5 more tests: homocystine level, factor VIII level, mutations for factor V Leiden and prothrombin G20210A, and lipoprotein (a) level. At least I risk factor was found in 5 of 13 children (38.5%) in the old era and in 8 of 18 (44.4%) in the new era. The extended battery for prothrombotic disorders revealed 7 risk factors in 4 children (22.2%) in the new era, whereas the limited battery identified a single risk factor in I child (7.7%) in the old era. For the correct etiologic identification, prothrombotic risk factors should be extensively evaluated in patients with arterial ischernic stroke.Öğe Bone mineral status in pediatric outpatients on antiepileptic drug monotherapy(B C Decker Inc, 2006) Tekgul, Hasan; Serdaroglu, Gul; Huseyinov, Afig; Gokben, SarenurDrug-induced osteopenia has been reported in institutionalized children on chronic antiepileptic drug therapy. The aim of this study was to assess longitudinally bone mineral status in pediatric outpatients on antiepileptic drug monotherapy. The study group consisted of 30 ambulatory children on a normal diet: 15 on valproic acid, 11 on carbamazepine, and 4 on phenobarbital monotherapy. Bone mineral density, serum active vitamin D (1,25-dihydroxyvitamin D), and certain biochemical markers of bone formation (calcium, phosphorus, alkaline phosphatase, intact parathyroid hormone, osteocalcin, calcitonin, and urinary calcium to serum creatinine and urinary phosphorus to serum creatinine ratios) were studied at the beginning of antiepileptic drug monotherapy and at the end of 2 years of treatment. Age- and sex-specific Z-scores of bone mineral density were measured at anterior-posterior L2-L4 by dual-energy x-ray absorptiometry. Drug-induced osteopenia was defined in only two patients (one on carbamazepine and the other on phenobarbital monotherapy), with Z-scores of bone mineral density less than -1.5. Serum levels of active vitamin D and biochemical markers were not significantly correlated with the Z-scores of bone mineral density. We detected a frequency of antiepileptic drug-induced osteopenia of 6.7% in pediatric outpatients after 2 years of monotherapy. However, osteopenia was not attributed to a defect in serum active vitamin D production owing to hyperparathyroidism in children on antiepileptic drug monotherapy.Öğe Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia(Oxford Univ Press, 2024) Ousingsawat, Jiraporn; Talbi, Khaoula; Gomez-Martin, Hilario; Koy, Anne; Fernandez-Jaen, Alberto; Tekgul, Hasan; Serdaroglu, EsraAnoctamin 3 (ANO3) belongs to a family of transmembrane proteins that form phospholipid scramblases and ion channels. A large number of ANO3 variants were identified as the cause of craniocervical dystonia, but the underlying pathogenic mechanisms remain obscure. It was suggested that ANO3 variants may dysregulate intracellular Ca2+ signalling, as variants in other Ca2+ regulating proteins like hippocalcin were also identified as a cause of dystonia. In this study, we conducted a comprehensive evaluation of the clinical, radiological and molecular characteristics of four individuals from four families who carried heterozygous variants in ANO3. The median age at follow-up was 6.6 years (ranging from 3.8 to 8.7 years). Three individuals presented with hypotonia and motor developmental delay. Two patients exhibited generalized progressive dystonia, while one patient presented with paroxysmal dystonia. Additionally, another patient exhibited early dyskinetic encephalopathy. One patient underwent bipallidal deep brain stimulation (DBS) and showed a mild but noteworthy response, while another patient is currently being considered for DBS treatment. Neuroimaging analysis of brain MRI studies did not reveal any specific abnormalities. The molecular spectrum included two novel ANO3 variants (V561L and S116L) and two previously reported ANO3 variants (A599D and S651N). As anoctamins are suggested to affect intracellular Ca2+ signals, we compared Ca2+ signalling and activation of ion channels in cells expressing wild-type ANO3 and cells expressing anoctamin variants. Novel V561L and S116L variants were compared with previously reported A599D and S651N variants and with wild-type ANO3 expressed in fibroblasts isolated from patients or when overexpressed in HEK293 cells. We identified ANO3 as a Ca2+-activated phospholipid scramblase that also conducts ions. Impaired Ca2+ signalling and compromised activation of Ca2+-dependent K+ channels were detected in cells expressing ANO3 variants. In the brain striatal cells of affected patients, impaired activation of KCa3.1 channels due to compromised Ca2+ signals may lead to depolarized membrane voltage and neuronal hyperexcitability and may also lead to reduced cellular viability, as shown in the present study. In conclusion, our study reveals the association between ANO3 variants and paroxysmal dystonia, representing the first reported link between these variants and this specific dystonic phenotype. We demonstrate that ANO3 functions as a Ca2+-activated phospholipid scramblase and ion channel; cells expressing ANO3 variants exhibit impaired Ca2+ signalling and compromised activation of Ca2+-dependent K+ channels. These findings provide a mechanism for the observed clinical manifestations and highlight the importance of ANO3 for neuronal excitability and cellular viability.Öğe A Case of Neurobrucellosis Presenting With Isolated Intracranial Hypertension(Sage Publications Inc, 2011) Yilmaz, Sanem; Serdaroglu, Gul; Gokben, Sarenur; Tekgul, HasanDespite being a treatable and preventable zoonosis, brucellosis is still endemic in certain areas of the world. Nervous system involvement is a rare but an important complication of brucellosis in childhood. Neurobrucellosis should be taken into consideration in the differential diagnosis of any kind of neurological signs, particularly in endemic areas. The authors present a patient with neurobrucellosis who presented with isolated intracranial hypertension without any other systemic symptoms of brucellosis.Öğe Central core disease: Atypical case with respiratory insufficiency in an intensive care unit(Sage Publications Inc, 2006) Polar, Muzaffer; Tosun, Ayse; Ay, Yilmaz; Ozer, Erdener; Serdaroglu, Gul; Aydogdu, Sema; Gokben, Sarenur; Tekgul, HasanCentral core disease is a rare congential myopathy characterized by formation of typical cores in myofibrils. We report an atypical case of central core disease with respiratory insufficiency in the late stage of congenital myopathy. A 13-year-old girl was admitted to the intensive care unit with the diagnosis of respiratory distress syndrome. Ventilatory support was initiated. After 2 weeks of follow-up, the Division of Pediatric Neurology was consulted owing to the failure to wean her from the ventilator. Clinical and electromyographic features were in favor of primary muscle disease. Muscle biopsy revealed typical cores in type 1 muscle fibers, which were diagnostic for central core disease. This case was presented to emphasize that patients with respiratory distress who cannot be weaned from the ventilator should be evaluated for central core disease with an atypical presentation.Öğe The Challenges of Distinguishing Cognitive Disengagement Syndrome from Childhood Absence Epilepsy in Clinical Settings(Routledge Journals, Taylor & Francis Ltd, 2024) Tahillioglu, Akin; Baranokglu Sevin, Ilayda; Erbasan, Zeynep Irem; Kanmaz, Seda; Tekgul, Hasan; Ercan, Eyuep SabriWe evaluated clinical parameters distinguishing cognitive disengagement syndrome (CDS) and childhood absence epilepsy (CAE). 40 children with CDS, 27 with CAE, and 41 controls aged 7-12 were compared regarding sleep problems, CDS, and ADHD symptoms. CDS-sluggishness symptoms, but not CDS-daydreaming symptoms, were significantly higher in CDS group than CAE group. CDS scale provided a weak discrimination value between CDS and CAE. Sleep problems and ADHD symptoms were similar between the two clinical entities. These findings highlight that CDS and CAE might have overlapping symptoms. 'Daydreaming' symptoms but not 'sluggishness' symptoms seem to be main overlapping manifestations between CDS and CAE.Öğe Changing views of cerebral palsy over 35 years: the experience of a center(Turkish J Pediatrics, 2013) Tosun, Ayse; Gokben, Sarenur; Serdaroglu, Gul; Polat, Muzaffer; Tekgul, HasanIn this study, it was aimed to evaluate the demographic and clinical characteristics of cerebral palsy (CP) cases over a 35-year period. Findings of 442 patients with CP followed from 1995 to 2006 (Group 2) were compared with 208 patients with CP followed between 1972 and 1994 (Group 1) in the same pediatric neurology division. Ratios of both prematurity (38% vs. 17.7%) and very low birth weight (VLBW) infants (13.8% vs. 1.5%) significantly increased in Group 2. There was also a four-fold increase in cesarean delivery in Group 2 (42.3% vs. 9.6%). A significant increase in the rate of early diagnosis during the first year was also found in this group (56.9% vs. 39.4%). The rate of spastic diparesis cases has significantly increased (33.7% vs. 7.7%), while the rate of spastic tetraparesis cases has significantly decreased (63.5% vs. 37.3%). It was seen that preventable risk factors continue today.Öğe Changing views of cerebral palsy over 35 years: the experience of a center(Turkish J Pediatrics, 2013) Tosun, Ayse; Gokben, Sarenur; Serdaroglu, Gul; Polat, Muzaffer; Tekgul, HasanIn this study, it was aimed to evaluate the demographic and clinical characteristics of cerebral palsy (CP) cases over a 35-year period. Findings of 442 patients with CP followed from 1995 to 2006 (Group 2) were compared with 208 patients with CP followed between 1972 and 1994 (Group 1) in the same pediatric neurology division. Ratios of both prematurity (38% vs. 17.7%) and very low birth weight (VLBW) infants (13.8% vs. 1.5%) significantly increased in Group 2. There was also a four-fold increase in cesarean delivery in Group 2 (42.3% vs. 9.6%). A significant increase in the rate of early diagnosis during the first year was also found in this group (56.9% vs. 39.4%). The rate of spastic diparesis cases has significantly increased (33.7% vs. 7.7%), while the rate of spastic tetraparesis cases has significantly decreased (63.5% vs. 37.3%). It was seen that preventable risk factors continue today.Öğe Clinical value of a set of neuropeptides in term and preterm neonates with seizures: Brain derived neurotrophic factor, galanin and neuropeptide Y(Elsevier Sci Ltd, 2020) Tanriverdi, Mahir; Kultursay, Nilgun; Tekgul, Hasan; Sozmen, Eser; Koroglu, Ozge Altun; Aktan, Gul; Yalaz, MehmetThe aim of our study to investigate clinical value of a set of neuropeptides (brain derived neurotrophic factor-BDNF, galanin and neuropeptide Y-NPY) in critically ill neonates. A total of 53 neonates (preterm: 26, term: 27) evaluated with lumbar pucture for etiologic evaluation were consequtively included into the study. Serum and CSF levels of the neuropeptides were measured in the first 48 h of life. All infants were prospectively followed for prognostic outcome (survival and neurodevelopmental) at the first year of life. the study cohort was categorized into four groups with respect to seizure development; preterm neonates with or without seizure and term neonates with or without seizure. Mean CSF levels of NPY (pg/ml) were significantly higher in term neonates with than those without seizures (389.76 vs. 122.66) and galanin (3.31 vs. 1.55) respectively. Term neonates with seizures had significantly higher serum levels of NPY (ng/mL) as compared with neonates without seizures (54.00 vs. 9.10). No significant difference was noted in serum and CSF levels for the set of neuropeptides in neonates with respect to prognostic outcome. Serum NPY and CSF NPY and galanin levels have a potential role for detection of clinical seizures in term neonates. (C) 2020 Elsevier Ltd. All rights reserved.Öğe The clinical value of amplitude-integrated electroencephalography in a historical cohort with neonatal encephalopathy: A comparison of short-term versus prolonged-period monitoring(Elsevier Sci Ltd, 2024) Tekgul, Hasan; Yalaz, Mehmet; Kanmaz, Seda; Terek, Demet; Aktan, Gul; Akcay, Ayfer Arduc; Koroglu, Ozge A.Background: To compare the amplitude -integrated electroencephalography (aEEG) monitoring (short-term versus prolonged -period) for neonatal seizure detection and outcome. Methods: The aEEG monitoring in a historical cohort (n = 88, preterm:42, and term:46) with neonatal encephalopathy between 2010-2022 was re-evaluated for neonatal seizures (electrographic, electro-clinical, and clinical seizures) and EEG background scoring. The cohort was dichotomized: group I (short -period with 6-12 h, n = 36) and group II (prolonged -period with 24-48 h, n = 52). Both monitoring types were evaluated for the diagnostic accuracy of the patients with seizures and for outcome characteristics (early death as well as adverse outcomes at 12 months of age). Results: A total of 67 (76 %) neonates of the cohort were diagnosed as patients with seizures: electrographiconly seizures in 10 (15 %), electro-clinical seizures in 22 (33 %), and clinical -only seizures in 35 (52 %). The aEEG provides the patients with seizures in neonates with a 36.5 % rate with both types of monitoring: 17/36 (47.2 %) with short-term and 15/52 (28.8 %) with prolonged -period monitoring. The prolonged period aEEG had higher diagnostic values for seizure detection ( sensitivity = 0.73 and negative predictivity value = 0.81 ). However, the aEEG background scores were similar for both types of aEEG monitoring, respectively ( the mean +/- SD: 4.73 +/- 2.9 versus 4.4 +/- 4. p = 0.837 ). The aEEG scoring was correlated with the magnitude of brain injury documented with MRI, the early death, and the adverse outcome at 12 months of age. Conclusions: Both aEEG types are valuable for monitoring the patients with seizures and outcome characteristics.Öğe Comparison Between Simultaneously Recorded Amplitude Integrated Electroencephalography and Standard Electroencephalography in Neonates with Acute Brain Injury(Galenos Yayincilik, 2015) Akcay, Ayfer; Yilmaz, Sanem; Tanriverdi, Sema; Koroglu, Ozge Altun; Yalaz, Mehmet; Kultursay, Nilgun; Gokben, Sarenur; Tekgul, Hasan; Serdaroglu, GulAim: There are many risk factors that cause significant neurologic damage in term and preterm infants who need intensive care. For these patients brain injury prevention has become the main goal of modern neonatalogy. Observing brain functions with electroencephalography (EEG) in newborns may be helpful in determining patients who carry increased risk factors for neurologic morbidity. The aim of this study is to compare the results of the synchronous amplitude EEG (aEEG) and conventional EEG (cEEG) in cases with newborn encephalopathy. Materials and Methods: Fifty two newborns cases (27 term, 25 preterm) were included to Ege University, Faculty of Medicine Pediatrics Department Neonatal ICU with possible neurological risk, thus, with neonatal encephalopathy, neurologic disturbance, or severe respiratory distress syndrome (RDS). Amplitude EEG was performed for 24-48 hours. Amplitude EEG was assessed by a neonatalogist using Burdjalov scoring system. The results of simultaneously performed amplitude EEG and conventional EEG were compared. Results: The results of synchronous aEEG and cEEG were compared and there was significant difference between aEEG scores (between 0-13 points) and cEEG grade(grade 0-3) (p<0.05). Amplitude EEG detected seizures in 15 cases. No clinical seizure activity was noted in 8 (53%) of the cases during aEEG. Clinical seizures developed in 11 patients throughout aEEG recordings and 7 of these were detected (sensitivity 63.6%, positive predictive value 46.6%). It was assessed that the aEEG score of the patients who had clinical seizures was 4.26 +/- 3.17, the score of the cases who had no seizures was 6.29 +/- 2.6. The missing seizures in aEEG were myoclonic and brief seizures. Conclusion: Monitorization with aEEG is suggested in newborns with acute brain injury to follow up the electrophysiological seizures and electrophysiological alterations. Amplitude EEG gave similar results to cEEG in detection of background rhytm. It is an easily applicable and alternative method. However, the sensitivity of aEEG in detecting seizure activity is low, particularly the brief seizures can be missed by using aEEG alone. Therefore, in suspicion of clinical seizure activity, it should be confirmed by cEEG.Öğe Comparison of the neurocognitive outcomes in term infants treated with levetiracetam and phenobarbital monotherapy for neonatal clinical seizures(W B Saunders Co Ltd, 2020) Arican, Pinar; Dundar, Nihal Olgac; Atasever, Neslihan Mete; Inal, Mine Akkaya; Gencpinar, Pinar; Cavusoglu, Dilek; Tekgul, HasanPurpose: This study aims to compare the neurocognitive outcome in term infants who were treated using phenobarbital (PB) and levetiracetam (LEV) monotherapy for neonatal clinical seizures. Methods: Term infants who were treated using PB or LEV monotherapy as the first-line anti-epileptic treatment for neonatal clinical seizures and followed-up in a pediatric neurology outpatient clinic were enrolled in this study. Neurodevelopmental outcome assessments were carried out using the Bayley Scales of Infant Development, third edition (BSID-III), including cognitive, receptive language, expressive language, fine motor and gross motor subscales. Results: the study group consisted of 62 infants who received monotherapy with PB monotherapy (n = 22) and LEV (n = 40). the mean duration of monotherapy treatment was 8 +/- 6 months. There was no statistically significant difference between PB and LEV monotherapy groups concerning each outcome parameter on the BSID-III. There was also no statistically significant difference between PB and LEV monotherapy subgroups excluding the infants with neurodevelopmental impairment with a BSID-III scale score < 7 or a composite score < 85. Conclusion: Our findings suggest that both LEV and PB therapy can be equally safe as monotherapy for neonatal clinical seizures for the neurodevelopmental outcome assessment with BSID-III.Öğe Convulsive status epilepticus in children: Etiology, treatment protocol and outcome(W B Saunders Co Ltd, 2011) Saz, Eylem Ulas; Karapinar, Bulent; Ozcetin, Mustafa; Polat, Muzaffer; Tosun, Ayse; Serdaroglu, Gul; Gokben, Sarenur; Tekgul, HasanThis study aimed to determine the etiology, treatment protocol and outcome of convulsive status epilepticus (SE) in children. An institutional treatment protocol using benzodiazepines (diazepam and midazolam) was assessed in a retrospective case study. The treatment protocol (Ege Pediatric Status Epilepticus Protocol or EPSEP) was developed based on an operational definition of pediatric SE according to the duration of seizure activity. Pediatric SE is divided into three categories: initial SE (20-30 min), established SE (30-60 min) and refractory SE (>60 min). Eight (30%) of the studied episodes were initial SE, 10 (37%) were established SE, and 9 (33%) were refractory SE. With respect to the etiological spectrum of SE, 11(40%) children had meningitis or encephalitis. Febrile SE was identified in 7 (26%) patients. Only 2 episodes of initial SE (7.5%) were controlled with first step of the protocol (two concomitant-doses of rectal diazepam). Midazolam bolus and infusions (up to 1.2 mu g/kg/min) were used to treat 22 episodes of SE (9 refractory SE, 10 established SE and 3 initial SE). Complete arrest of convulsive SE was achieved in 21 of 22 (95%) episodes with midazolam infusion. We concluded that the combined use of benzodiazepines (diazepam + midazolam) was safe and effective in the treatment of convulsive SE in children. (C) 2010 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.Öğe CSF levels of a set of neurotrophic factors (brain-derived neurotrophic factor, nerve growth factor) and neuropeptides (neuropeptide Y, galanin) in epileptic children(Elsevier Sci Ltd, 2020) Tekgul, Hasan; Serin, Hepsen Mine; Simsek, Erdem; Kanmaz, Seda; Gazeteci, Hande; Azarsiz, Elif; Gokben, SarenurThis paper aims to investigate the possible roles of a set of neurotrophic factors (brain-derived neurotrophic factor-BDNF, nerve growth factor-NGF) and neuropeptides (neuropeptide Y-NPY, and galanin) in children with active epileptogenesis. the cerebrospinal fluid (CSF) levels of BDNF, NPY, NGF and galanin were measured with enzyme-linked immunosorbent assays in epileptic children (n = 73) and controls (n = 64). There were no significant alterations in the CSF levels of BDNF, NPY and NGF in epileptic children with active clinical seizures compared with the levels of controls. However profoundly depressed galanin levels were found in infants with epileptic encephalopathy (mean +/- SD:0.63 +/- 0.19 pg/ml) and significantly increased galanin levels were measured in children with drug resistant epilepsy during the period of status epilepticus (mean +/- SD: 6.92 +/- 1.19, pg/ml pg/ml) compared with the levels of controls. Depressed levels of galanin might reflect a defective anti-epileptogenic effect of galanin in infants with epileptic encephalopathy. on the contrary, increased CSF levels of galanin might be a result of antiepileptogenic effects of this peptide in epileptic children with status epilepticus. (C) 2020 Elsevier Ltd. All rights reserved.Öğe Determining Risk Factors of Epilepsy in Children with Cerebral Palsy: A Retrospective Study(Galenos Yayincilik, 2018) Gurkan, Ferda; Gokben, Sarenur; Serin, Hepsen Mine; Yilmaz, Sanem; Aktan, Gul; Tekgul, HasanAim: The aim of this study is to determine the risk factors of epilepsy development in children with cerebral palsy. Materials amd Methods: Data of 234 cerebral palsy patients followed at Ege University Pediatrics Department, Child Neurology Division between January 2008 and December 2015 were evaluated retrospectively. All patients were classified into two groups as Group I: cerebral palsy without epilepsy (n=116), and Group II: cerebral palsy with epilepsy (n=118). Clinical, laboratory findings of the groups were compared to each other, a p value of less than 0.05 was considered as statistically significant. Results: There was no significant difference between two groups in terms of gender, gestastional age, birth type, birth weight, risk factors for cerebral palsy development (pre-/peri-/postnatal), duration of neonatal intensive care stay and the need for mechanical ventilation(p>0.05).The risk factors of epilepsy were determined as the following; presence of neonatal convulsions, focal clonic and generalized tonic neonatal seizures, an abnormal baseline rhythm on neonatal electroencephalography (EEG), discharge from neonatal intensive care unit with at least one antiepileptic drug, spastic bilateral (tetraplegic) cerebral palsy, epileptic activity on the sixth month EEG, abnormal cranial MRI findings, mental retardation, microcephaly and visual problems. Conclusion: Epilepsy is a common problem in children with cerebral palsy. Therefore, cases of cerebral palsy, especially those with the determined risk factors should be closely monitored in terms of epilepsy for timely diagnosis and proper treatment.Öğe Different Neurologic Aspects of Nutritional B-12 Deficiency in Infancy(Sage Publications Inc, 2016) Yilmaz, Sanem; Serdaroglu, Gul; Tekgul, Hasan; Gokben, SarenurThe objective of this study is to evaluate neurologic problems caused by nutritional vitamin B-12 deficiency in infancy. Twenty-four cases between 2 and 18 months of age with neurologic symptoms and/or signs and diagnosed as nutritional vitamin B-12 deficiency were analyzed. The most common symptoms were developmental retardation, afebrile seizures, and involuntary movements. The mean vitamin B-12 levels were lower in patients with both neurologic and extraneurologic involvement when compared to those with only neurologic symptoms. All of the cases were treated with vitamin B-12. In patients with severe deficiencies, involuntary movements were observed during vitamin B-12 treatment using cyanocobalamin form. At the 1-year follow-up, all but 3 patients were considered neurodevelopmentally normal. The 3 patients that did not fully recover, on admission, had the lowest vitamin B-12 levels. It is of great importance to prevent, diagnose, and treat vitamin B-12 deficiency promptly to prevent the long-term neurologic problems.Öğe Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emery-dreifuss muscular dystrophy(Turkish J Pediatrics, 2020) Tekin, Hande; Yilmaz, Sanem; Tekgul, Hasan; Gokben, Sarenur; Aktan, GulDropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C> A) heterozygote mutation by the gene sequencing in the Lamin A/C associated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy.Öğe Dysembryoplastic neuroepithelial tumors of childhood: Ege University experience(Springer, 2022) Ataseven, Eda; Ozcan, Muhittin; Olculu, Cemile Busra; Bolat, Elif; Ertan, Yesim; Kitis, Omer; Tekgul, HasanBackground Dysembryoplastic neuroepithelial tumors (DNETs) are rare, low-grade tumors of the central nervous system (CNS) of childhood. It is an important cause of intractable epilepsy, and it is surgically curable. We aimed to review our institutional experience with DNET in children. Methods Medical records of children aged less than 18 years of age diagnosed with DNET between 2009 and 2020 at Ege University Hospital were reviewed. Clinical features of the patients including age, gender, initial symptoms, duration of symptoms, medical treatments, age at the time of surgery, tumor location, degree of surgical resection, and outcome of the patients were documented. Results We reviewed the records of 17 patients with DNETs. Twelve of them were male (70%), 5 of them female (30%). The median age was 11 years (19 months-17 years). The major symptom was a seizure in all of the patients. Thirteen patients presented with complex partial seizures, whereas 2 had a simple partial seizure, and 2 generalized tonic-clonic seizures. Seven patients had drug resistant epilepsy and had received at least two anti-epileptic drugs before surgery. The median duration of symptoms was 6.6 months (0-48 months). In surgery, total surgical resection was performed in 15 patients, and 2 patients underwent partial resection. From these 15 patients, seven patients underwent lesionectomy of the tumor while the other eight patients had extended lesionectomy. The mean follow-up time was 107 months (54-144 months), the seizure control was achieved in 14 patients (82.4%) after surgery, but 3 patients experienced tumor recurrence in the follow-up. Conclusion In DNETs, the complete total resection of the lesion is generally associated with seizure-free outcomes. In the patients with partial resection and lesionectomy, MRI follow-up is recommended for recurrence.
