Browsing by Author "Erol, Ilknur"

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22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation
(2015) Erol, Ilknur; Onay, Ozge Surmeli; Yilmaz, Zerrin; Ozer, Ozge; Alehan, Fusun; Sahin, Feride Iffet
Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome.
Acute Cerebral Venous Sinus Thrombosis: Two Different Presentations
(2014) Kilicaslan, Buket; Erol, Ilknur; Demir, Senay; Yazici, Nalan; AAW-9958-2021
Acute cerebral venous sinus thrombosis is a rare disorder in children, but is often secondary to infections. The clinical features of cerebral venous sinus thrombosis are based on the localization and size of the affected vessel and age of the patient. In this article we encountered two different presentations of acute cerebral venous sinus thrombosis in two children aged 8 and 12 years old.
Association Between Hypocapnia and Febrile Seizures
(2014) Kilicaslan, Buket; Erol, Ilknur; Ozkale, Yasemin; Saygi, Semra; Sariturk, Cagla; https://orcid.org/0000-0002-3530-0463; https://orcid.org/0000-0003-3009-336X; https://orcid.org/0000-0002-8522-5078; https://orcid.org/0000-0002-4130-1059; 24396127; AAW-9958-2021; AAK-4825-2021; AAL-6136-2021; AAB-1203-2021; AAS-7129-2021
The purpose of this study is to determine whether hyperthermia-induced hyperventilation with subsequent hypocapnia is relevant to febrile seizures in children. This is only the second study to measure pCO2 and pH values in children with febrile seizures. This prospective case-control study enrolled 18 children who presented with febrile seizures and 18 children who presented with a febrile illness without seizures. Venous blood gas analyses were measured both from the febrile seizure and control group. There was no significant difference in mean blood pH between the febrile seizure and control groups but blood pCO2 was significantly lower in the febrile seizure group. Patients with complex febrile seizures exhibited significantly lower pCO2 levels within 1 hour of seizure onset than patients with simplex febrile seizures. These data indicate that febrile seizures may be associated with hyperventilation and that the ensuing hypocapnia may contribute to the development of febrile seizures.
Association between platelet indices and febrile seizures in children
(2016) Ozkale, Murat; Erol, Ilknur; Ozkale, Yasemin; Sariturk, Cagla; 0000-0002-3530-0463; 0000-0003-0625-1057; 0000-0003-3009-336X; AAK-4825-2021; AAS-7129-2021; A-7806-2016; AAL-6136-2021
Purpose: Febrile seizures (FS) are the most common type of seizures in children. The aim of this study was to evaluate the relationship between platelet indices and FS in children. Materials and Methods: This prospective study included 40 children who presented with FS and 30 controls who presented with febrile illnesses without seizures. Complete blood counts, including platelet count (PC), mean platelet volume (MPV), and platelet distribution width (PDW) from both groups within 1 hour of FS and 1 month later were obtained. Results: We found that the MPV and PDW within 1 hour of seizure in children with complex FS group was higher than simple FS group while there was no significant difference in MPV and PDW between patients in the simple and complex FS groups at 1 month. The mean PC was not significantly different between simple and complex FS groups; but, we found that the mean PC in the complex FS group was slightly lower than simple FS group. There was a moderate significant positive correlation between MPV and PDW in children with FS while there was a moderate significant negative correlation between PC and MPV, PDW for FS. Conclusion: Our findings suggest that the increasing platelet turnover in complex FS group causes a slightly decrease in the PC, an significantly increase of MPV and PDW values indicating that these parameters may play an important role in predicting the severity of FS in children at diagnosis.
Cardiac rhabdomyoma associated with tuberosclerosis complex in a newborn
(2016) Torer, Birgin; Cetinkaya, Bilin; Arslan, Alevi; Alkan, Ozlem; Erol, Ilknur; Gulcan, Hande; 0000-0002-3530-0463; 0000-0003-0866-7339; 0000-0003-4444-0027; 0000-0001-7526-3460; AAK-4825-2021; AAF-1346-2021; V-1112-2019; AAM-4169-2021
Cardiac rhabdomyomas are the most comman cardiac tumors in children. They are hamartomatous benign tumors composed of myocytes. They often presents as multiple lesions involving the ventricular cavities. Rhabdomyomas are usually detected in utero by fetal echocardiography. Although patients with cardiac rhabdomyomas are generally asymptomatic these tumors may cause heart failure, severe arrhyhmias and sudden death. Cardiac rhabdomyomas are often associated with tuberosclerosis and they may be the earliest manifestation of tuberosclerosis. Here, we report a newborn infant with antenatally detected cardiac rhabdomyomas associated with tuberosclerosis and we want to emphasize that other diagnostic features of tuberosclerosis should be evaluated in patients with cardiac rhabdomyomas.
Case Report First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature
(2021) Orgun, Leman Tekin; Besen, Seyda; Sangun, Ozlem; Bisgin, Atil; Alkan, Ozlem; Erol, Ilknur
Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case has been reported until now. Herein, we review the clinical and radiological features of all AR- PFBC patients with biallelic variants in the MYORG gene who were reported until now, and we report the youngest patient who has a novel homozygous variant. Since the first identification of the MYORG gene in 2018, 74cases of MYORG variants related to AR-PFBC were evaluated. The ages of symptom onset of the patients ranged between 7.5 and 87 years. The most frequent clinical courses were speech impairment, movement disorder and cerebellar signs. All patients showed basal ganglia calcification usually bilaterally with different severities. Conclusion; herein, we reported the first pediatric patient in the literature who had a novel homozygous variant in the MYORG gene with mild clinic findings. (c) 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Cerebellar Mutism Caused by Primary Varicella Infection in an Immunocompetent Child
(2014) Erol, Ilknur; Ozkale, Yasemin; Saygi, Semra; Alehan, Fusun; https://orcid.org/0000-0002-3530-0463; https://orcid.org/0000-0002-8522-5078; 23446802; AAK-4825-2021; AAB-1203-2021
Varicella (chickenpox) is a common childhood infection caused by the varicella-zoster virus, which is often self-limiting and usually benign. Although uncommon, neurologic complications of varicella have been documented that include postinfectious cerebellar ataxia, meningoencephalitis, Reye syndrome, myelitis, optic neuritis, stroke, Guillain-Barre syndrome, seventh cranial nerve palsy, and Ramsay-Hunt syndrome. In this case study, the authors describe a 7-year-old girl who presented with varicella skin rash with unsteady gait and anarthria on day 2, and her condition was attributed to cerebellar mutism. To date, this complication has never been reported in a child with primary varicella infection. Therefore, this case study documents a rare but serious complication of childhood chickenpox.
Chanarin Dorfman Syndrome: A Case Report
(2015) Ozkale, Yasemin; Erol, Ilknur; Canan, Oguz; Durdu, Murat
Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's anomaly) in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings.
Clinical Presentation of Anti-N-Methyl-D-Aspartate Receptor and Anti-Voltage-Gated Potassium Channel Complex Antibodies in Children: A Series Of 24 Cases
(2018) Konuskan, Bahadir; Yildirim, Mirac; Topaloglu, Haluk; Erol, Ilknur; Oztoprak, Ulkuhan; Tan, Huseyin; Gocmen, Rahsan; Anlar, Banu; https://orcid.org/0000-0002-3530-0463; 29153996; AAK-4825-2021
Objective: The symptomatology and paraclinical findings of antibody-mediated encephalitis, a relatively novel disorder, are still being characterized in adults and children. A high index of suspicion is needed in order to identify these cases among children presenting with various neurological symptoms. The aim of this study is to examine the clinical, demographic and laboratory findings and outcome of children with anti-NMDAR and anti-VGKC encephalitis for any typical or distinctive features. Methods: Cases diagnosed with anti-N-Methyl o-aspartate receptor (NMDAR) and anti voltage gated potassium channel (VGKC) antibody-mediated encephalopathy in four major child neurology centers are described. Results: In four years, 16 children with NMDAR and 8 children with VGKC antibody associated disease were identified in the participating centers. The most frequent initial manifestation consisted of generalized seizures and cognitive symptoms in both groups. Movement abnormalities were frequent in anti-NMDAR patients and autonomic symptoms, in anti-VGKC patients. Cerebrospinal fluid (CSF) protein, cell count and IgG index were normal in 9/15 anti-NMDAR and 5/8 anti-VGKC patients tested. EEG and MRI findings were usually nonspecific and non-contributory. The rate and time of recovery was not related to age, sex, acute or subacute onset, antibody type, MRI, EEG or CSF results. Treatment within 3 months of onset was associated with normal neurological outcome. Conclusions: Our results suggest anti-NMDAR and VGKC encephalopathies mostly present with non-focal neurological symptoms longer than 3 weeks. In contrast with adult cases, routine CSF testing, MRI and EEG did not contribute to the diagnosis in this series. (C) 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Congenital Segmental Spinal Muscular Atrophy: A Case Report
(2015) Savas, Tulin; Erol, Ilknur; Ozkale, Yasemin; Saygi, Semra; 0000-0002-3530-0463; 0000-0002-8522-5078; 0000-0003-3009-336X; 25300987; AAK-4825-2021; AAB-1203-2021; AAL-6136-2021
Spinal muscular atrophies are genetic disorders in which anterior horn cells in the spinal cord and motor nuclei of the brainstem are progressively lost. We present a patient with arthrogryposis due to congenital spinal muscular atrophy predominantly affecting the upper limbs. Spinal muscular atrophies with onset at birth may be a cause of arthrogryposis. Localized forms of neurogenic arthrogryposis have been divided into cervical and caudal forms. Our case is similar to the cases described by Hageman et al (J Neurol Neurosurg Psychiatry 1993;56:365-368): severe symmetric lower motor neuron deficit in the upper extremities at the time of birth, no history of injury to the cervical spinal cord or the brachial plexus during delivery, and severe muscle wasting suggesting chronic denervation in utero. Because there was improvement of our patient's situation, her disease was also possibly nonprogressive and sporadic. To our knowledge, this is the first reported case of a Turkish patient with congenital cervical spinal muscular atrophy. Congenital cervical spinal muscular atrophy affecting predominantly the upper limbs is a relatively rare form of motor neuron disease and should be considered in the differential diagnosis of infants with congenital contractures and severe muscle weakness by wasting mainly confined to the upper limbs.
Early clinical predictors of intractable epilepsy in childhood
(2014) Saygi, Semra; Erol, Ilknur; Alehan, Fusun
Aim: In this retrospective study, we evaluated the clinical responses to antiepileptic drug (AED) therapy in pediatric epilepsy patients treated at a single center. Materials and methods: We identified 28 children with intractable epilepsy and 213 patients with drug-responsive epilepsy. Results: Univariate analysis showed that age at onset, high (daily) initial seizure frequency, infantile spasm, history of neonatal seizures, abnormal neurodevelopmental status, neurological abnormalities, mental retardation, remote symptomatic etiology, and abnormal brain imaging results were significant risk factors for the development of intractable epilepsy (P < 0.05). Multivariate logistic regression analysis revealed that high (daily) initial seizure frequency and remote symptomatic etiology were significant and independent risk factors for intractable epilepsy (P < 0.05). Conclusion: Our study suggests that the risk of developing intractable epilepsy in childhood may be predicted, to some extent, by the early clinical course. Early identification of patients at high risk of developing intractable epilepsy will guide appropriate therapy and reduce exposure to ineffectual treatments.
Electroencephalographic Findings in Anti-N-Methyl-D-Aspartate Receptor Encephalitis in Children: A Series Of 12 Patients
(2018) Yildirim, Mirac; Konuskan, Bahadir; Yalnizoglu, Dilek; Topaloglu, Haluk; Erol, Ilknur; https://orcid.org/0000-0002-3530-0463; 29179102; AAK-4825-2021
Objective: Anti-N-methyl-D-aspartate receptor encephalitis (a-NMDARe) is an acute or subacute encephalopathy where electroencephalogram (EEG) is frequently obtained as part of the workup. Although no diagnostic EEG finding has been described so far, the definition of specific or typical patterns might help to distinguish this group among various encephalopathies of childhood. We examined EEG recordings of our patients with a-NMDARe in order to describe the most frequent findings. Methods: Clinical and laboratory data and digital EEG recordings of 12 pediatric patients diagnosed with a-NMDARe in two major child neurology centers are evaluated. Results: We reviewed 43 EEG recordings from 12 children with a-NMDARe and followed their evolution for a median of 6 (range: 1-60) months. Initial EEG was abnormal in 11/12 patients. The most frequent finding was focal or diffuse slowing of the background rhythm. Generalized rhythmic delta activity, brief rhythmic discharges (BRDs), and occipital intermittent rhythmic delta activity (OIRDA) were seen in two patients each. Diffuse excess beta frequency activity was seen in three patients. Extreme delta brushes were observed in 5/12 (41.7%) patients, disappeared in 4-6 months (two patients), or persisted at 10-17 months (two patients). Epileptic activity was seen in seven patients (58%) and lateralized periodic discharges in one. On follow-up EEGs, most epileptic activity disappeared in a median of 8 months. Conclusions: A normal EEG is rare in a-NMDARe. Focal or diffuse slowing, epileptic activity, and extreme delta brush are common findings. Epileptic activity in early EEGs do not persists in most patients. Severe diffuse slowing may predict neurological impairment if confirmed in larger series. (C) 2017 Elsevier Inc. All rights reserved.
Endovascular Treatment of a Patient with Moyamoya Disease and Seckel Syndrome: A Case Report
(2018) Andic, Cagatay; Gunesli, Aylin; Alkan, Ozlem; Erol, Ilknur; Suner, Halil Ibrahim; 30090148
Seckel syndrome and Moyamoya diseases are different entities that rarely associated with each other. Several cases presenting with both these diseases were reported. Intracerebral artery aneurysms and collateral vessels can be seen with Moyamoya. They are commonly treated with medical treatment. We present a 12-years old patient with both Seckel syndrome and Moyamoya disease presented with middle cerebral artery aneurysm which was treated with endovascular modalities.
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect
(2019) Yalnizoglu, Dilek; Ozgul, R. Koksal; Oguz, Kader K.; Ozer, Bugra; Yucel-Yilmaz, Didem; Gurbuz, Berrak; Serdaroglu, Esra; Erol, Ilknur; Topcu, Meral; Dursun, Ali; 30701556
MBOAT7 gene codes O-acyltransferase domain containing seven proteins which is one of four enzymes involved in remodeling of phosphoinositol phosphate (PIP) in LANDs cycle. We present clinical, neuroimaging, and genetic findings of 12 patients from 7 families with MBOAT7 gene defect, a recently defined novel phospholipid remodelling disease. To the best of our knowledge, our case series is the second report on patients with MBOAT7 gene defect. The patients present with global developmental delay particularly in speech and language skills, intellectual disability, stereotypical behavior, ataxic gait, early onset epilepsy with well response to medical treatment, strabismus and similar facial features. Common neuroimaging findings of the patients were folium dysgenesis of the cerebellum with a particular appearance, mild-to-moderate cerebellar atrophy, T2 hyperintensity of bilateral globus pallidius and dentate nuclei, enlarged perivascular areas, and mild thinning of the corpus callosum. Genome-wide genotyping and exome sequencing identified five different types of homozygous mutations in the MBOAT7 gene in all seven families which are p.Arg87*, p.Leu227ProfsX65, p.Gln376Lys, p.Trp426*, and chr19:54.666.173-54.677.766/11594bp del. We conclude that clinical and neuroimaging findings of MBOAT7 gene defect may suggest the diagnosis and guide genetic tests.
Long-Term Accidental Overdose of Levetiracetam in an Infant
(2014) Ozkale, Yasemin; Ozkale, Murat; Saygi, Semra; Erol, Ilknur; https://orcid.org/0000-0003-3009-336X; https://orcid.org/0000-0003-0625-1057; https://orcid.org/0000-0002-8522-5078; https://orcid.org/0000-0002-3530-0463; 23520362; AAL-6136-2021; A-7806-2016; AAB-1203-2021; AAK-4825-2021
Levetiracetam is one of the new anticonvulsant drugs that has a high therapeutic index and potential antiepileptogenic effects. Herein, we report a patient with multidrug refractory epilepsy and Ohtahara syndrome who was accidentally administered 300 mg/kg/d for 35 days by her mother. To our knowledge, there are only a few cases of accidental overdose of levetiracetam in pediatric patients reported in the literature, and this case study is the first to report such a high and long-term dose in an infant who showed no adverse effects.
MLPA Method does not Always Confirm the Results of aCGH: A Study of KANSL1 Gene Deletion Patients
(2022) Dincer, Selin Akad; Celik, Zerrin Yilmaz; Erol, Ilknur; Sahin, Feride Iffet; AAC-8356-2020
Background: Microdeletion and microduplications are detected on chromosomes as a pathological subgroup of copy number variants of DNA. It has become easierto identify such chromosomal syndromes after use of array-based comparative genomic hybridization technology. One of them is the 17q21.31 microdeletion and microduplication syndrome. A 500-650 kb sized copy loss on 17q21.31 results in a phenotype which was described as Koolen-de Vries Syndrome including mental retardation, epilepsia, hypotonia and characteristic facial features. Today, we know that haplo-insufficiency of KANSL1 gene located in this region is responsible for these findings. A total of 30 patients with KANSL1 deletion detected during aCGH analyses were enrolled in the current study. All patients were analyzed by Multiplex Ligation-Dependent Probe Amplication (MLPA) method in order to confirm the results. Results: Three of the 30 patients had KANSL1 gene deletion detected by both methods and duplication was found in one patient. Conclusion: As a result of the study, we concluded that although new generation molecular methods enable us to obtain big and valuable data, each method has its own limitations and confirming the reults with another method increases test reliability. Using together of these methods are useful for the geneticists during diagnosis, clinical assessment and genetic counseling of patients.
Multidrug Resistance 1 (MDR1) 3435C/T Genotyping in Childhood Drug-Resistant Epilepsy
(2014) Saygi, Semra; Alehan, Fusun; Atac, Fatma Belgin; Erol, Ilknur; Verdi, Hasibe; Erdem, Remzi; https://orcid.org/0000-0002-8522-5078; https://orcid.org/0000-0001-6868-2165; https://orcid.org/0000-0002-3530-0463; https://orcid.org/0000-0003-0591-009X; https://orcid.org/0000-0002-7537-2170; 23465586; AAB-1203-2021; ABG-9966-2020; AAK-4825-2021; ABG-9940-2020
Introduction: A mutation at nucleotide position 3435 in exon 26 of the multidrug resistance 1 (MDR1) gene is the most frequently studied polymorphism in relation to multidrug resistance. However, there are conflicting data as to whether the CC or TT genotype of the 3435C>T polymorphism is associated with drug resistance. Methods and results: We investigated the association between this polymorphism in drug-resistant childhood epilepsy by comparison with drug-responsive patients. In total, 59 patients with drug-resistant epilepsy, defined as having four or more seizures within a 12-month period while using three or more AEDs, 60 children with drug-responsive epilepsy who had remained seizure-free for 12 months on their current AED regimen and 76 healthy children were involved in this study. Genotype frequencies in drug-resistant patients were as follows: 32.2% CC, 44.1% CT, 23.7% TT; in the drug-responsive group: 20.0% CC, 50.0% CT, 30.0% TT; in the control group: 24.3% CC, 50.0% CT, 25.7% TT. Comparison of drug-resistant and drug-responsive patients revealed no significant difference in genotype frequency. The findings of the epilepsy patients were not significantly different from those of the healthy control subjects. Conclusions: Our study does not support any significant association between the MDR1 polymorphism and drug-resistant childhood epilepsy. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Narcolepsy and cataplexy: a pediatric case report
(2016) Erol, Ilknur; Savas, Tulin; Saygi, Semra; Habesoglu, Mehmet Ali; 0000-0002-3530-0463; 0000-0002-8522-5078; 0000-0001-9136-355X; 28123336; AAK-4825-2021; Q-2338-2019; AAB-1203-2021
Narcolepsy is characterized by excessive sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis during the rapid eye movement period of sleep. Herein, we present a boy aged eight years who was diagnosed as having narcolepsy and cataplexy about thirteen months after his first presentation. He was admitted with symptoms of daytime sleepiness. In the follow-up, cataplexy in the form of head dropping attacks developed seven months after the first admission. The patient was investigated for different prediagnoses and was eventually diagnosed as having narcolepsy and cataplexy through polysomnography and multiple sleep latency tests thirteen months after the first presentation. He is being followed up and is under drug therapy; his symptoms have improved substantially.
Neuromyelitis Optica Mimics the Morphology of Spinal Cord Tumors
(2016) Erol, Ilknur; Ozkale, Murat; Savas, Tulin; Alkan, Ozlem; Cekinmez, Melih; Erbay, Ayse; 0000-0002-3530-0463; 0000-0003-0625-1057; 0000-0001-9658-9005; 0000-0001-7526-3460; 28266199; AAK-4825-2021; A-7806-2016; AAM-4169-2021
Neuromyelitis optica (NMO) is an autoimmune disorder of the central nervous system, that predominantly affects the spinal cord and the optic nerve. Its key features include transverse myelitis, commonly associated with extensive inflammation spanning three or more consecutive vertebral segments. Longitudinal extensive spinal cord lesions can also occur in systemic autoimmune diseases, infections, vascular and metabolic disorders, subsequent to irradiation, intramedullary tumors and paraneoplastic myelopathies. We present a case study of an 8-year-old girl seropositive for antibodies against the aquaporin 4 who displayed longitudinal extensive spinal cord lesions, that was initially misdiagnosed as an intramedullary tumor.
Optic Neuritis as A Presenting Symptom of Mycoplasma Pneumoniae Infection
(2015) Ozkale, Yasemin; Erol, Ilknur; Coban Karatas, Muge; Alkan, Ozlem; 0000-0003-3009-336X; 0000-0001-7526-3460; 0000-0002-3530-0463; 27186706; AAL-6136-2021; AAM-4169-2021; AAK-4825-2021
A broad range of neurologic disorders has been described in children infected with Mycoplasma pneumoniae, of which encephalitis is among the most common. In contrast, the association between optic neuritis and Mycoplasma pneumoniae infection has been rarely described in children. We report a case of a 12-year-old girl who was seropositive for antibodies against Mycoplasma pneumoniae and presented with optic neuritis without respiratory symptoms or other neurologic findings.