Publications by authors named "Ceren Gunbey"

10 Publications

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Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay.

Eur J Paediatr Neurol 2021 Jun 4;33:94-98. Epub 2021 Jun 4.

Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Ankara, Turkey. Electronic address:

Objective: To evaluate the clinical phenotype, disease course, laboratory, and genetic features of patients with CLN2 disease over a 20 year period with a special emphasis on risk factors for diagnostic delay.

Methods: Thirty patients (23 families) with CLN2 disease, evaluated between 1996 and 2019 in a tertiary referral center in Turkey, were included. Clinical features, diagnostic pathway, disease course, genetic data, electrophysiological, and neuroimaging findings were analyzed, retrospectively. The patients diagnosed between 1996 and 2009, and 2010-2019 were defined as group 1 (G1), and group 2 (G2), respectively. Patients in these two groups were also compared.

Results: The median age at symptom-onset was 36 months (20 months-7 years). Most common presenting symptoms were seizures (70%), followed by language delay (43%), and psychomotor regression (27%). Median age at diagnosis was 5.2 years (1.6-11 years) with a median 27 months (1 month-7 years) of diagnostic delay. Age at diagnosis was earlier in G2 (4.6 years vs 7 years, p = 0.002), with a shorter time to diagnosis (21 months vs 39 months, p = 0.004). Median time between the onset of first symptoms and death was 8.3 years (SE 1.0). Electroencephalograms (EEG) revealed abnormal features predominantly in posterior hemispheral regions and a photoparoxysmal response to intermittent photic stimulation was detected in 53% of the patients. Cerebellar (96%)/cerebral atrophy (83%), and white matter changes (57%) were the most common radiological abnormalities.

Conclusions: Most of our patients presented with late-infantile onset seizures. Despite increased availability of enzymatic and molecular testing, there is still a considerable diagnostic delay.
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http://dx.doi.org/10.1016/j.ejpn.2021.05.015DOI Listing
June 2021

Etiological and Clinical Profile of Acute Nonbacterial Encephalitis in Children: A Single-Center Prospective Study.

Neuropediatrics 2021 Feb 12. Epub 2021 Feb 12.

Department of Pediatric Neurology, Hacettepe University Medical Faculty, Ankara, Turkey.

Encephalitis is a serious neurological syndrome caused by inflammation of the brain. The diagnosis can be challenging and etiology remains unidentified in about half of the pediatric cases. We aimed to investigate demographic, clinical, laboratory, electroencephalographic and neuroimaging findings, and outcome of acute encephalitis of nonbacterial etiology. This prospective study included children hospitalized with the diagnosis of acute encephalitis between 2017 and 2019. Microbiological investigations of the cerebrospinal fluid (CSF) were recorded. All CSF specimens were tested for anti-N methyl D-aspartate receptor (NMDAR) antibodies. In total, 31 children aged 10 months to 17 years (median = 6 years) were included. Pathogens were confirmed in CSF in three patients (9.7%): varicella zoster virus, herpes simplex virus type 1 (HSV-1), and both HSV-1 and NMDAR antibodies. Presenting features included encephalopathy (100%), fever (80.6%), seizure (45.2%), focal neurological signs (29%), and ataxia (19.4%). On clinical follow-up of median 9 (6-24) months, six patients showed neurological deficits: together with two patients who died in hospital, total eight (25.8%) patients were considered to have unfavorable outcome. Need for intubation, receiving immunomodulatory treatment, prolonged hospitalization, and high erythrocyte sedimentation rate at admission were associated with unfavorable outcome. The etiology of encephalitis remains unexplained in the majority of children. HSV-1 is the most frequently detected virus, consistent with the literature. The fact that anti-NMDAR encephalitis was detected in one child suggests autoimmune encephalitis not being rare in our center. The outcome is favorable in the majority while about one-fifth of cases suffer from sequelae.
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http://dx.doi.org/10.1055/s-0041-1723954DOI Listing
February 2021

Basal serum thyroxine level should guide initial thyroxine replacement dose in neonates with congenital hypothyroidism.

J Clin Res Pediatr Endocrinol 2020 Dec 30. Epub 2020 Dec 30.

Hacettepe University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey.

Objective: Initial high-dose Na-L thyroxine (Na-LT4) (10-15 μg/kg/day) replacement for primary congenital hypothyroidism (CH) is recommended in guidelines. However, high-dose Na-LT4 has risks. In this study, we aimed to investigate normalizing effect of varying initial doses of Na-LT4 on serum thyroid hormone levels.

Methods: Fifty-two patients were analyzed retrospectively. The patients were classified into mild (27/51.9%), moderate (11/21.1%) and severe (14/26.9%) CH with respect to initial free thyroxine (FT4) levels. Time taken to achieve target hormone levels was compared within groups.

Results: Initial mean Na-LT4 doses for mild, moderate and severe disease were 6.9±3.3, 9.4±2.2 and 10.2±2 μg/kg/day. Serum FT4 levels reached the upper half of normal range (>1.32 ng/dL) in a median of 16, 13 and 16 days in patients with mild, moderate and severe CH with the mean time from initial treatment to first control visit 14.8 ± 6 days (range 1-36). There was no significant difference in terms of time to achieve target FT4 hormone levels according to disease severity (p=0.478). Seven (25.9%), 8 (72.7%) and 8 (57.1%) patients experienced hyperthyroidism (serum FT4 >1.94 ng/dL) in mild, moderate, severe CH groups in the first visit, respectively (p=0.016).

Conclusion: Not all patients diagnosed with CH require high-dose Na-LT4, initial dose of Na-LT4 may be tailored based on pre-treatment thyroid hormone levels. Some patients with moderate and severe CH, experienced iatrogenic hyperthyroidism even though the dose was close to the lower limit of the recommended range in guidelines; suggesting lower initial doses and closer follow-up within the first week.
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http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0194DOI Listing
December 2020

International consensus classification of hippocampal sclerosis and etiologic diversity in children with temporal lobectomy.

Epilepsy Behav 2020 11 1;112:107380. Epub 2020 Sep 1.

Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address:

Introduction: The distribution of hippocampal sclerosis (HS) subtypes, according to the classification of the International League Against Epilepsy (ILAE), has been reported mainly in adult patients. We aimed to review the pathological findings in children who had anterior temporal lobectomy accompanied with amygdalohippocampectomy, in view of the current classification, and evaluate postsurgical outcome with respect to HS subtypes in childhood.

Methods: Seventy children who underwent temporal resections for treatment of medically refractory epilepsy, with a minimum follow-up of 2 years, were included; the surgical hippocampus specimens were re-evaluated under the HS ILAE classification.

Results: Neuropathological evaluations revealed HS type 1 in 38 patients (54.3%), HS type 2 in 2 (2.8%), HS type 3 in 21 patients (30%), and no HS in 9 patients (12.9%). Of 70 patients, 23 (32.9%) had dual pathology, and the most common pattern was HS type 3 with low-grade epilepsy-associated brain tumors (LEAT). The distribution of HS types with respect to age revealed that HS type 3 and no HS subgroups had significantly more patients younger than 12 years, compared with those of HS type 1 (90.5%, 77.8% vs 47.4%, respectively). History of febrile seizures was higher in HS type 1. Prolonged/recurrent febrile seizures were most common in patients 12 years and older, whereas LEAT was the most common etiology in patients under 12 years of age (p < 0.001). Patients with HS type 1 had longer duration of epilepsy and an older age at the time of surgery compared with patients with HS type 3 and no HS (p: 0.031, p: 0.007). At final visit, 74.3% of the patients were seizure-free. Seizure outcome showed no significant difference between pathological subtypes.

Conclusions: Our study presents the distribution of HS ILAE subtypes in an exclusively pediatric series along with long-term seizure outcome. The study reveals that the leading pathological HS subgroup in children is HS type 1, similar with adult series. Hippocampal sclerosis type 2 is significantly less in children compared with adults; however, HS type 3 emerges as the second most predominant group because of dual pathology, particularly LEAT. Further studies are required regarding clinicopathological features of isolated HS in pediatric cohort. Seizure-free outcome was favorable and similar in all HS types in children. The proportion of HS types may be better defined in pediatric patients with temporal resections, as the current HS ILAE classification becomes more widely used, and may help reveal the surgical and cognitive outcome with respect to HS types.
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http://dx.doi.org/10.1016/j.yebeh.2020.107380DOI Listing
November 2020

Optic neuropathies in childhood: a review of etiology and treatment.

Turk J Pediatr 2019 ;61(4):471-476

Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Günbey C, Konuşkan B. Optic neuropathies in childhood: a review of etiology and treatment. Turk J Pediatr 2019; 61: 471-476. Optic neuropathy (ON) is a common problem in childhood resulting from various causes including ischemic, metabolic, hereditary, traumatic and inflammatory events. The latter represents the most prevalent group; the term `optic neuritis` is generally used for this group which can manifest as part of a systemic inflammatory disease, a central nervous system disorder, or as an isolated entity. The aim of this review is to highlight the clinical characteristics and treatments of ON for pediatricians, focusing on optic neuritis.
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http://dx.doi.org/10.24953/turkjped.2019.04.001DOI Listing
May 2020

Cardiac autonomic function evaluation in pediatric and adult patients with congenital myasthenic syndromes.

Neuromuscul Disord 2019 04 19;29(4):290-295. Epub 2019 Feb 19.

Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Cardiac autonomic dysfunction has been examined in myasthenia gravis but not in congenital myasthenic syndromes (CMS). We aimed to evaluate cardiac autonomic functions in genetically defined CMS. Patients diagnosed with and under treatment for CMS were reviewed for 24-hour cardiac rhythm monitoring. Heart rate variability (HRV) measures were defined as: SDNN, mean of the standard deviations for all R-R intervals; SDNNi, standard deviation of all R-R intervals in successive five-minute epochs; RMSSD, square root of the mean of squared differences between successive R-R intervals. Ten patients with mutations in the epsilon subunit of the acetylcholine receptor (AChRε) and five patients with mutations in the collagen-like tail of asymmetric acetylcholinesterase (ColQ) were included. Median age at evaluation was 17 (2.5-46) years. In the AChRε group, RMSSD values; and in the ColQ group, SDNN, SDNNi and RMSSD values were significantly lower than those of healthy subjects. This first extensive report examining HRV in CMS showed alterations in patients with ColQ mutations and, to a lesser extent, in the group with AChRε mutations. This might indicate an increased risk of cardiac arrhythmias. We suggest cardiological follow-up in CMS, and consideration of any potential cardiovascular effects of therapeutic agents used in management.
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http://dx.doi.org/10.1016/j.nmd.2019.02.004DOI Listing
April 2019

Behavioral problems of preschool children with new-onset epilepsy and one-year follow-up - A prospective study.

Epilepsy Behav 2019 03 17;92:171-175. Epub 2019 Jan 17.

Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Sihhiye 06100, Ankara, Turkey. Electronic address:

Objectives: Childhood emotional/behavioral problems in children with epilepsy have been reported to be higher compared with those with typical development or with other nonneurologic health conditions. Increasing interest towards understanding these behavioral comorbidities is reflected in literature. However, longitudinal investigations regarding the course of behavioral problems in children with newly diagnosed epilepsy and normal development are rare, and majority of them involve school-aged children. We aimed to study the behavioral comorbidities of preschool children with newly diagnosed epilepsy and to explore the changes of behavioral problems after one year from the diagnosis in comparison with the healthy group and subsequently, to elucidate the potential developmental, neurologic, and social risk factors associated with these difficulties.

Methods: Participants were 83 patients, aged between 18 and 59 months, 43 of them were children with new-onset epilepsy, and 40 of them were healthy children as the comparison group. The Child Behavior Check List-1 1/2-5 (CBCL) was used to evaluate emotional/behavioral problems of the children. Maternal anxiety was analyzed by The State-Trait Anxiety Inventory (STAI). The general development of children was evaluated by the Denver-II-Developmental Screening Test (D-II-DST). Sociodemographic characteristics were also collected for all participants. Each evaluation was repeated after one year from the diagnosis.

Results: Internalizing, externalizing, and total problem scores were higher in children with epilepsy than the control group at baseline, and despite some reduction in several scales, the differences continued across groups after one year. The analysis for the course revealed that behavior problem scores reduced in children with new-onset epilepsy over a year, but it did not change in healthy children. Among the possible factors related to behavior problem scores, in correlation analysis, the duration of screen viewing, socioeconomic status, and maternal education were associated with behavior problem scores. There was no significant association between epilepsy-related variables and the behavior problem scores and the course. Among all possible risk factors in the regression analyses, maternal trait anxiety level was found to be significantly related to the total problems, internalizing, and externalizing scores in the group with epilepsy.

Conclusion: Behavioral comorbidities of epilepsy are present very early and can be seen at the time of the diagnosis, however, they do not worsen over time in preschool children. Maternal anxiety should be considered as a risk factor for behavioral problems in preschool children with epilepsy. Assisting children and parents and ensuring necessary guidance and support should be a crucial part of epilepsy treatment initiated as soon as the time of diagnosis.
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http://dx.doi.org/10.1016/j.yebeh.2018.12.025DOI Listing
March 2019

Concurrence of juvenile idiopathic arthritis and primary demyelinating disease in a young child.

Mult Scler Relat Disord 2019 Jan 3;27:20-22. Epub 2018 Oct 3.

Department of Pediatric Neurology, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.

Case Report: The association of juvenile idiopathic arthritis (JIA) and primary demyelinating disease of central nervous system (CNS) in the same patient is rare. Here we present a 10-year-old girl formerly diagnosed with JIA who presented with acute total vision loss. Magnetic resonance imaging of the brain and spinal cord showed bilateral optic neuritis and T2 hyperintense lesions in the brain, cerebellum and cervical spinal cord, some of them gadolinium-enhancing. Oligoclonal bands were present in the cerebrospinal fluid. Visual evoked potentials were prolonged. Aquaporin-4 antibodies were negative. The patient was treated with methylprednisolone 30 mg/kg daily for five days, resulting in improvement in vision and gait. This first demyelinating event in this patient with JIA with clinical and paraclinical features meeting the 2017 MS diagnostic criteria supports a possible predisposition to autoimmune disorders.

Conclusion: The concurrence of JIA and multiple sclerosis (MS) has been reported in only two adult cases and not in the pediatric population. While JIA and MS are two distinct chronic inflammatory diseases, immunogenetic predisposition and common environmental triggers might be involved.
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http://dx.doi.org/10.1016/j.msard.2018.10.002DOI Listing
January 2019

Susceptibility-Weighted Magnetic Resonance Imaging Findings of Two Pediatric Migraine Patients with Aura.

Neuropediatrics 2016 Jan 30;47(1):46-50. Epub 2015 Dec 30.

Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.

Objective: Migraine with aura is considered common during the pediatric age and in some cases it could be hard to distinguish migraine from mimicking conditions. We would like to emphasize the role of susceptibility-weighted imaging (SWI) in pediatric migraine patients with aura.

Methods: We retrospectively reviewed the clinical and SWI findings of two pediatric migraine patients with aura.

Results: Initial SWI of two pediatric migraine patients with aura demonstrated venous conspicuity in the left cerebral hemisphere and follow-up SWI of them showed normal findings with symmetrical venous vasculature.

Conclusion: Beyond routine work-up techniques, SWI in combination with diffusion-weighted imaging is helpful for differentiation from acute ischemic stroke, especially in the setting of acephalgic migraine. Multimodality imaging may also be helpful in elucidating the underlying pathophysiologic mechanisms of migraine in the pediatric age group.
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http://dx.doi.org/10.1055/s-0035-1570322DOI Listing
January 2016

Glucose-6-phosphate dehydrogenase deficiency in neonatal hyperbilirubinaemia: Hacettepe experıence.

J Paediatr Child Health 2013 May 11;49(5):399-402. Epub 2013 Apr 11.

Section of Neonatology, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

Aim: The aim of this study was to investigate the prevalence of glucose-6-phospate dehydrogenase (G6PD) deficiency in newborn infants with neonatal hyperbilirubinaemia and to compare the clinical features of G6PD-deficient and G6PD-normal newborn infants.

Methods: A total of 4906 term and preterm neonates with indirect hyperbilirubinaemia were retrospectively evaluated according to demographic, neonatal features, bilirubin levels, erythrocyte G6PD levels, other risk factors and treatments.

Results: Among 4906 newborn infants with indirect hyperbilirubinaemia, 55 (1.12%) neonates were G6PD-deficient. In our study, no statistically significant difference was detected between G6PD-deficient and G6PD-normal infants in relation to the time of onset of jaundice, bilirubin levels and duration of phototherapy. However, the incidence of exchange transfusion in G6PD-deficient infants was 16.4% while it was only 3.3% in G6PD normal infants (P < 0.05).

Conclusion: Testing for G6PD must be ordered to all newborns who are receiving phototherapy and especially to those who are coming from the high incident geographical regions and less responsive to phototherapy.
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http://dx.doi.org/10.1111/jpc.12193DOI Listing
May 2013
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