Browsing by Author "Orak, SA"

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    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.
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    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.
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    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.
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    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.
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    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.
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    Evaluation of GFAP, S100B, and UCHL-1 Levels in Children With Refractory Epilepsy
    Aksoy, HU; Yilmaz, C; Orak, SA; Ayça, S; Polat, M
    Introduction A number of biomarkers are used to evaluate the duration of the epileptic seizure and the interictal period following neuronal injury. Invasive diagnostic methods are increasingly being replaced by peripheral or minimally invasive biomarkers that give results faster and are more secure.Purpose We aimed to evaluate serum glial fibrillary acidic protein (GFAP), S100B, and ubiquitin C-terminal hydrolase (UCHL-1) levels in children with epilepsy.Methods Our study included 3 groups: a nonrefractory epilepsy group, a refractory epilepsy group, and a control group. The GFAP, S100B, and UCHL-1 levels in serum samples collected 2-24 hours after the last seizure were analyzed using enzyme-linked immunosorbent assays.Results A total of 69 children participated in the study, with 35 participants in the refractory epilepsy group, 18 in the nonrefractory epilepsy group, and 16 in the control group. The GFAP values in the refractory (25.4 ng/mL) and nonrefractory (26.1 ng/mL) epilepsy groups were found to be statistically significantly higher than those in the control group (17.9 ng/mL; P = .001). The S100B values were found to be significantly higher in the refractory epilepsy group (34.13 pg/mL) than in both the control group and the nonrefractory epilepsy group (28.05 pg/mL; P = .028). No significant differences were observed in the UCHL-1 levels between the 3 groups.Conclusions We conclude that the observed differences may be due to the increased expression of S100B and GFAP caused by increased and repetitive neuronal damage in refractory epilepsies compared with nonrefractory epilepsies.
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    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.
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    A multicenter study of radiologically isolated syndrome in children and adolescents: Can we predict the course?
    Yilmaza, D; Teber, S; Gueltutan, P; Yildirim, M; Bektas, Ö; Alikiliç, D; Güngör, M; Kara, B; Öncel, I; Dilek, TD; Saltik, S; Kanmaz, S; Yilmaz, S; Tekgül, H; Çavusoglu, D; Karaoglu, P; Yilmaz, Ü; Orak, SA; Güngor, O; Anlar, B
    Objectives: To evaluate clinical characteristics, imaging features and etiological profile of Radiologically Isolated Syndrome (RIS) along with clinical and radiological follow-up.Methods: Demographic, clinical and radiological data of patients younger than 18 years fulfilling the criteria for RIS were retrospectively analyzed. RIS was defined by the detection of lesions meeting the revised 2010 McDonald Criteria for dissemination in space on magnetic resonance imaging (MRI) in the absence of any symptoms of demyelinating disease or an alternative cause for the MRI findings.Results: There were total 69 patients (38 girls, 31 boys). The median age at index MRI was 15.7 years, and median follow-up time was 28 months. The most common reason for neuroimaging was headache (60.9%). A first clinical event occurred with median 11 months in 14/69 (20%) of cases. Those with oligoclonal bands (OCB) in cerebrospinal fluid (CSF) and follow-up longer than 3 years were more likely to experience a clinical event (p<0.05): 25% of those with OCB manifested clinical symptoms within the first year and 33.3% within the first two years compared to 6.3% and 9.4%, respectively in those without OCB. Radiological evolution was not associated with any variables: age, sex, reason for neuroimaging, serum 25-hydroxyvitamin D level, elevated IgG index, OCB positivity, total number and localization of lesions, presence of gadolinium enhancement, achievement of 2005 criteria for DIS and duration of follow-up.Conclusion: Children and adolescents with RIS and CSF OCB should be followed-up for at least 3 years in order to detect any clinical symptoms suggestive of a demyelinating event. Because disease-modifying treatments are not approved in RIS and no consensus report justifies their use especially in pediatric RIS, close follow-up of OCB-positive patients is needed for early recognition of any clinical event and timely initiation of specific treatment.
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    Optic neuritis in Turkish children and adolescents: A multicenter retrospective study
    Direk, MÇ; Besen, S; Öncel, I; Günbey, C; Özdogan, O; Orgun, LT; Sahin, S; Cansu, A; Yildiz, N; Kanmaz, S; Yilmaz, S; Tekgül, H; Türkdogan, D; Ünver, O; Thomas, GO; Basibüyük, S; Yilmaz, D; Kurt, AN; Gültutan, P; Özsoy, Ö; Yis, U; Kurul, SH; Güngör, S; Özgör, B; Karadag, M; Dündar, NO; Gençpinar, P; Bildik, O; Orak, SA; Kabur, ÇÇ; Kara, B; Karaca, Ö; Canpolat, M; Gümüs, H; Per, H; Yilmaz, Ü; Karaoglu, P; Ersoy, Ö; Tosun, A; Öztürk, SB; Yüksel, D; Atasoy, E; Gücüyener, K; Yildirim, M; Bektas, Ö; Çavusoglu, D; Yarar, Ç; Güngör, O; Mert, GG; Sarigeçili, E; Edizer, S; Çetin, ID; Aydin, S; Diler, B; Özdemir, AA; Erol, I; Okuyaz, Ç; Anlar, B
    Background: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge.Methods: Cases of pediatric ON from 27 centers in Turkiye diagnosed between 2009 and 2022 were included for retrospective evaluation.Results: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 +/- 3.4 years, and mean follow-up, 2.1 years (range: 1-12.1 years). Patients <10 years old were grouped as prepubertal and those >= 10 years old as others. The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset >= 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis.Conclusion: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri- or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group.