Browsing by Author "Atasever, AK"

Now showing 1 - 7 of 7
  • No Thumbnail Available
    Item
    Clinical Characteristics and Treatment Outcomes of Cases Diagnosed with Pediatric Optic Neuritis
    Orak, SA; Kubur,ÇÇ; Köse, H; Atasever, AK; Polat, M
    Objective: Optic neuritis (ON) is a condition that causes vision loss usually in one eye, often due to multiple sclerosis (MS). In this study, we aim to examine the clinical course, diagnostic tests, and treatment outcomes of patients presenting with acute or subacute ON. Method: In this retrospective study, we examined the medical records of pediatric patients aged 3-18 years who were evaluated for acute ON in our neurology department between January 2015 and January 2021. Results: Our study population of 18 participants consisted of female (55. 6%), and male (44. 4%) patients with an overall mean age of 13.8 +/- 2.3 years at admission. During the follow-up period, patients received the diagnosis of isolated ON (n=10), MS (n=7), and acute disseminated encephalomyelitis (n=1). The most common complaints at initial presentations were blurred vision and visual loss. ON was unilateral in 83.7% and bilateral in 16.7% of the patients. Color vision was initially impaired in 11 of 18 patients. Cranial magnetic resonance imaging (MRI), orbital MRI and spinal MRI revealed demyelinating lesions at different rates. Conclusion: It is crucial to consider ON as one of the potential causes of vision loss in patients. The possibility of other demyelinating diseases, including MS, which can be present or may develop in patients with ON either during the initial presentation or follow-up should be kept in mind.
  • No Thumbnail Available
    Item
    Two siblings with horizontal gaze palsy and ROBO3 gene mutation: A double case study
    Orak, SA; Erdogan, M; Yilmaz, C; Atasever, AK; Kubur, CC; Polat, M
    Horizontal gaze palsy along with progressive scoliosis (HGPPS) is rare and autosomal recessive disease related to the mutations in the ROBO3 gene located on chromosome 11q23-25. We present here two siblings from parents of consanguineous marriage, who were diagnosed with bilateral horizontal gaze restriction and scoliosis associated with homozygous mutation within ROBO3 gene and at the same time having neuroimaging findings. With HGPSS's typical findings, we detected a homozygous c.1366G> T (p.Gly456Ter) variant in the ROBO3 gene in our patients. HGPPS should be confirmed by ROBO3 gene analysis, and the brain MRI may be the first diagnostic technique.
  • No Thumbnail Available
    Item
    Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant
    Orak, SA; Bilgiç, DG; Kubur,ÇÇ; Atasever, AK; Yilmaz, C; Polat, M
    Introduction: As with many genetic diseases, the diagnostic role of next-generation sequencing is invaluable for early-onset epileptic encephalopathies. SNARE proteins in synaptic vesicles (synaptobrevin-2) and synaptic plasma membrane (syntaxin-1, SNAP-25) are involved in synaptic exocytosis and recycling. Patient Presentation: Here, we report a patient that started in early childhood with seizures resistant to antiepileptic drugs, then developed epileptic encephalopathy. Discussion/Conclusion: The NAPB gene encodes proteins in the SNARE complex. A previously unidentified homozygous missense variant in the NAPB gene may have contributed significantly to the etiology of our patient with epileptic encephalopathy. We also summarize the clinical, radiological, laboratory, and genetic findings of previously published patients with NAPB variants.
  • No Thumbnail Available
    Item
    A Neuroblastoma Case Presenting with Seizures Resistant to Anti-Epileptic Treatments
    Kubur, ÇÇ; Orak, SA; Atasever, AK; Yilmaz, C; Polat, M
    Seizure is a rare symptom of paraneoplastic syndrome seen in neuroblastoma without a previous history. A 4-month-old male patient who was followed up with a preliminary diagnosis of an adrenal mass in pediatric oncology was admitted to hospital with a seizure. A diagnosis of undifferentiated neuroblastoma was made with a biopsy from an adrenal mass. Seizures were resistant to anti-epileptic therapy and they were completely under control with steroids on the 4th day of treatment. Electroencephalography (EEG) disturbances disappeared and no neurologic deficit was detected. This case, which presented with isolated seizure symptoms of neuroblastoma and was treated with steroids, was a very rare presentation in which symptoms and EEG disturbances disappeared. In neuroblastoma, autoimmunity may be involved in the pathogenesis of seizures, which is a rare finding of paraneoplastic syndrome and the option of immunotherapy should be considered.
  • No Thumbnail Available
    Item
    Two case reports and a literature review of typical GBS and rare GBS variants associated with COVID-19
    Orak, SA; Kubur, ÇÇ; Atasever, AK; Polat, M
    Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in late 2019, and is the infectious agent that caused the coronavirus disease 2019 (COVID-19) pandemic. Although respiratory and gastrointes-tinal manifestations of SARS-CoV-2 are well defined, the spectrum of neurological involvement is less defined. The classic type of Guillain-Barr ⠃e syndrome (GBS) progresses over days to weeks and has a mono-phasic course. Areflexia/hyporeflexia and ascending and symmetrical paralysis are observed clinically in patients. It is an autoimmune process that typically leads to the destruction of myelin after infection. There have been numerous reports of adult patients with the coexistence of GBS disease and active COVID-19 ill-ness, but this number is lacking for children. In this study, we present a literature review of the etiological correlation between SARS-CoV-2 and GBS and describe the cases of two pediatric patients with acute mono-phasic Guillain-Barr ⠃e syndrome (GBS) during active COVID-19 infection.& COPY; 2023 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.
  • No Thumbnail Available
    Item
    Efficacy of Lacosamide Therapy in Focal Onset Refractory Epilepsy of Childhood: A Single Center Experience
    Aksoy, HU; Yilmaz, C; Ayça, S; Atasever, AK; Polat, M; Öztürk, S
    Objective: Treatment of childhood refractory epilepsy is a challenge for clinicians. Lacosamide is a new generation antiepileptic drug which is being used for focal onset seizures of adults and children. Efficacy and safety of the drug for adults have been demonstrated in various studies. The aim of this retrospective cross-sectional study is to evaluate the efficacy and safety of lacosamide in childhood refractory focal seizures in our clinic. Methods: We examined the medical records of 14 patients treated with lacosamide in our clinic between January 2016 and January 2020 in terms of demographic, etiological, neuroimaging findings, responses to treatment, adverse effects and drug-drug interactions. We evaluated the patients as responders to treatment whose seizure frequency decreased >=%50 after 6 months of lacosamide treatment. Results: in 12 patiens (%85.7) seizure frequency decreased >=%50 (rho<0.001) while 5 of them (%35.7) was seizure free. Despite to the long term treatment one patient did not response to lacosamide treatment, and 1 patient's treatment stopped due to aggravation of seizure after initiation of lacosamide treatment. Clinical adverse effects were observed in 3 (%21.4) patients. Cardiac adverse effects or drug-drug interactions were not observed in any patient. Conclusion: As a result of our study, we think that lacosamide is an effective and reliable treatment option for refractory focal seizures of childhood similar to the results of the studies cited in the literature. We also think that further investigations are needed to evaluate its efficacy in focal and different type of seizures of childhood.
  • No Thumbnail Available
    Item
    Neurocognitive effects and electrophysiological findings in ADHD and self-limiting centrotemporal spike wave epilepsy (SeLECTS) - A prospective tertiary care study
    Orak, SA; Bilaç,ö; Polat, M; Sobay, NS; Yalçin, AH; Korkmaz, R; Kubur,ÇÇ; Atasever, AK; Yilmaz, C; Özyurt, BC
    Objective: The study aimed to determine the prevalence of attention deficit hyperactivity disorder (ADHD) in patients with self-limiting epilepsy with centrotemporal spike wave (SeLECTS), as well as the electroclinical features associated with this comorbid condition and the neurocognitive effects using psychometric tests. Additionally, we analysed the electrophysiological findings and neurocognitive status of patients with ADHD to estimate the prevalence of epilepsy and neurocognitive effects in the ADHD population and evaluate their clinical features. Method: The study included patients diagnosed with SeLECT and ADHD who were matched for age and gender. Electrophysiological tests, psychometric tests, demographic and clinical characteristics of SeLECTS patients aged 7-13 years and ADHD patients of similar age were analysed. The study examined electrophysiological and psychometric tests, as well as demographic and clinical characteristics. Both groups underwent testing using the Wechsler Intelligence Scale for Children (WISC-R), Stroop Colour and Word Test (SCWT), and EEG (Electroencephalogram). The SeLECT group also underwent the Bender Visual-Motor Gestalt Test. Rsults: No significant relationship was found between the SeLECT and ADHD groups in terms of age and gender. The rate of epileptiform discharge in EEG findings without a diagnosis of epilepsy was 5.6 % (n = 2) in the ADHD group. The rate of ADHD in the SeLECTS group was 28 % (n = 11). Although all subsections of the WISCR test were higher in the ADHD patient group than in the SeLECTS patient group, only verbal IQ and total IQ showed a significant difference. No significant differences were found between the completion times, error rates, and correction averages of the SCWT sections in both groups. There was no significant correlation found between the performance IQ, verbal IQ, and total intelligence scores in either the isolated SeLECTS patient group or the SeLECTS + ADHD patient group (p > 0.05). However, it is worth noting that verbal IQ was below normal in both groups and slightly lower in the SeLECT + ADHD group. Additionally, the mean SeWT completion time was significantly longer in the SeLECT + ADHD group than in the isolated SeLECT group. However, no significant difference was found in the Bender Gestalt Visual Motor Perception Test. In the psychometric analyses comparing the isolated SeLECTS, SeLECT + ADHD, and ADHD patient groups, the SCWT completion times were significantly longer in the SeLECT + ADHD group than in the other two groups. The verbal IQ score was significantly higher in the ADHD group than in the other two groups. Conclusion: In conclusion, although SeLECTS is commonly considered a benign form of epilepsy, our study found a high rate of comorbidity with ADHD. This condition has a negative impact on verbal intelligence and sustained attention, highlighting the importance of a complete neuropsychological evaluation at the stage of epilepsy diagnosis. It is crucial not to overlook the possibility of an ADHD diagnosis.