Wos İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/11727/4807
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Item 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-8356-2020Background: 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.Item Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes(2022) Yilmaz, Unsal; Gucuyener, Kivilcim; Yavuz, Merve; Oncel, Ibrahim; Canpolat, Mehmet; Saltik, Sema; Unver, Olcay; Kurt, Aysegul Nese Citak; Tosun, Ayse; Yilmaz, Sanem; Ozgor, Bilge; Erol, Ilknur; Oztoprak, Ulkuhan; Elitez, Duygu Aykol; Direk, Meltem Cobanogullari; Bodur, Muhittin; Teber, Serap; Anlar, Banu; 36137476Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. Aim: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. Method: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Turkiye. Clinical and paraclinical features were compared between patients with dis-ease onset before 12 years (earlier onset) and >= 12 years (later onset) as well as between our current (2015-2021) and previous (< 2015) cohorts. Results: A total of 634 children (456 girls) were enrolled, 89 (14%) were of earlier onset. The earlier-onset group had lower female/male ratio, more frequent initial diagnosis of acute disseminated encephalomyelitis (ADEM), more frequent brainstem symptoms, longer interval between the first two attacks, less frequent spinal cord involvement on magnetic resonance imaging (MRI), and lower prevalence of cerebrospinal fluid (CSF)-restricted oligoclonal bands (OCBs). The earlier-onset group was less likely to respond to initial disease-modifying treatments. Compared to our previous cohort, the current series had fewer patients with onset < 12 years, initial presentation with ADEM-like features, brainstem or cerebellar symptoms, seizures, and spinal lesions on MRI. The female/male ratio, the frequency of sensorial symptoms, and CSF-restricted OCBs were higher than reported in our previous cohort. Conclusion: Pediatric MS starting before 12 years was less common than reported previously, likely due to exclusion of patients with antibody-mediated diseases. The results underline the importance of antibody testing and indicate pediatric MS may be a more homogeneous disorder and more similar to adult-onset MS than previously thought.Item Plasma Exchange in the Treatment of A Child with West Nile Virus Encephalitis: A Case Report(2022) Ozkale, Yasemin; Ozkale, Murat; Ceylan, Ozgur; Erol, IlknurBackground: West Nile virus (WNV) is a member of the Japanese encephalitis antigenic complex of the family Flaviviridae that can cause a wide range of clinical symptoms, from asymptomatic disease to severe meningitis, encephalitis flaccid paralysis, and death. In immunocompetent children, WNV infection is usually benign and self-limiting. However, this virus is also associated with severe neurological disease in some patients, especially those who are older, have a chronic disease, have undergone organ transplantation, or are immunocompromised. Case Report: A 12-year-old boy with selective immunoglobulin A-deficiency (SIgAD) and refractory seizures due to WNV encephalitis (WNE) was successfully treated with therapeutic plasma exchange (TPE) in conjunction with other immunomodulatory therapies. Conclusion: WNV can progress like autoimmune encephalitis. TPE appears to be safe and effective for treating children with WNE. To our knowledge, this report is the first of a child with WNV infection and SIgAD.Item 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, IlknurVariants 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.Item Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease(2020) Kilic, Betul; Topcu, Yasemin; Dursuna, Siar; Erol, Ilknur; Dolu, Merve Hilal; Tasdemir, Haydar Ali; Aydin, Kursad; 0000-0002-3530-0463; 32600842; AAK-4825-2021Aim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. Material and methods: Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described. Results: Among seven patients diagnosed with BTBGD, two had early infantile form, four had classic childhood form, and one was asymptomatic. Four different homozygous variants were found in the SLC19A3. Two patients with early infantile form presented with encephalopathy, dystonia, and refractory seizure in the neonatal period and have different variants. Their MRI findings were similar and pathognomonic for the early infantile form. Three siblings had same variants: one presented seizure and encephalopathy at the age of 4 months, one presented seizure at 14 years, and another was asymptomatic at 20 years. Only one of them had normal MRI findings, and the others MRI findings were similar and suggestive of the classic form. Other two siblings; one of them presented with developmental delay, seizure, and dystonia at 18 months and the other presented with subacute encephalopathy and ataxia at 20 months. Their MRI findings were also similar and suggestive of the classic form. Conclusion: BTBGD may present with dissimilar clinical characteristics or remain asymptomatic for a long time period even in a family or patients with same variants. Brain MRI patterns may be important for the early diagnosis of BTBGD that would save children's lives. (C) 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.Item 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; 30701556MBOAT7 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.Item Early clinical predictors of intractable epilepsy in childhood(2014) Saygi, Semra; Erol, Ilknur; Alehan, FusunAim: 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.Item Tuberous sclerosis complex; a single center experience(2015) Erol, Ilknur; Savas, Tulin; Sekerci, Sevda; Yazici, Nalan; Erbay, Ayse; Demir, Senay; Saygi, Semra; Alkan, Ozlem; 26078697Aim: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. Material and Methods: 20 patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. Results: It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, imaging findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain in 17. No cardiac involvement was observed in the patients. Infantile spasm was observed in 7 of the patients who presented because of seizure (n=17), partial seizure was observed in 7 and multiple seizure types were observed in 3. It was found that sirolimus treatment was given to 9 of 20 patients because of different reasons, 7 of these 9 patients had epileptic seizures and sirolimus treatment had no effect on epileptic seizures. According to 2012 diagnostic criteria, no marked change occured in the diagnoses of our patients. Conclusions: It was observed that the signs and symptoms of our patients were compatible with the literature. Molecular genetic examination was planned for the patients who were being followed up because of possible tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients.Item The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey(2015) Erol, Ilknur; 25296579Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies.Item Wernicke Encephalopathy after Gastrointestinal Surgery(2015) Saygi, Semra; Savas, Tulin; Alkan, Ozlem; Erol, IlknurWe herein describe a child operated for acute abdomen who developed Wernicke's encephalopathy (WE) secondary to prolonged total parenteral nutrition (TPN) that lacked vitamin B1 supplementation. The author concluded that surgeons, child neurologists, pediatricians and radiologists need to be aware of the predisposing factors and symptoms of WE. Clinicians need to keep in mind that ophthalmoplegia, ataxia or altered mental status could be findings of WE.