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Öğe Acquired Demyelinating Syndrome: Single Center Experience(Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2019) Serin, Hepsen Mine; Simsek, Erdem; Kanmaz, Seda; Yilmaz, Sanem; Aktan, Gul; Tekgul, Hasan; Gokben, SarenurObjective: Acquired demyelinating syndromes are immune-mediated demyelinating disorders of the central nervous system. Clinical spectrum includes acute disseminated encephalomyelitis, optic neuritis, transverse myelitis, clinically isolated syndrome, and neuromyelitis optica. Aim of this study is to present the clinical features of patients followed up with the diagnosis of demyelinating disease other than multiple sclerosis and also our therapeutic experience. Method: Data of 30 patients with acquired demyelinating disease followed up in Ege University Department of Child Neurology between January 2013 and January 2018 were evaluated retrospectively. Demographic data, admission complaints, clinical and neuroimaging findings, laboratory results, ophthalmologic findings and treatments used were recorded. Results: The age of the patients ranged between 3, and 15 years and mean age was 8.76 +/- 3.59 years. The most common diagnosis was acute disseminated encephalomyelitis. The most common complaints were ataxia, headache, encephalopathy, plegia (mono+paraplegia), blurred vision and visual loss in order of decreasing frequency. Oligoclonal banding, and anti-aquaporin 4 antibody negativities were detected in all patients. Anti-myelin oligodendrocyte antibody-positivity was found in seven patients. In one of these patients tests were positive for both anti-aquaporin 4 and anti-myelin oligodendrocyte antibodies. Neuroimaging revealed findings consistent with cerebral white matter, spinal cord and optic nerve involvement. All patients were started on intravenous pulse methylprednisolone therapy during the acute episode Conclusion: Since childhood acquired demyelinating diseases may be the first episode of multiple sclerosis, it is important to perform detailed serological tests and CSF examinations for follow-up of patients, and differential diagnosis.Öğe Assessment of Prognostic Factors and Validity of Scoring Models in Childhood Autoimmune Encephalitis(AVES, 2023) Kanmaz, Seda; Yilmaz, Sanem; Toprak, Dilara Ece; Atas, Yavuz; Ince, Tugce; Simsek, Erdem; Dokurel, IpekObjective: The aim of this study is to evaluate the prognostic factors in a single-center pediatric cohort with autoimmune encephalitis. Materials and Methods: The study group consisted of 23 pediatric autoimmune encephalitis patients (seropositive autoimmune encephalitis: 15, seronegative autoimmune encephalitis: 8). Five group prognostic parameters were evaluated: clinical manifestations, electroenc ephalography features, magnetic resonance imaging characteristics, biomarkers, and treatment modalities. Three scoring models were applied: the Antibody Prevalence in Epilepsy and Response to Immunotherapy in Epilepsy for predicting autoimmune-related epilepsy in the whole cohort and the anti-N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status score for overall outcome in patients with anti-N-methyl-d-aspartate receptor encephalitis. Results: The initial clinical spectrum of the disease was similar in the seronegative and seropositive groups. Almost half of the patients (48%) recovered without any complications with first-line immunotherapy. The patients with movement disorders in the acute phase of the disease needed more likely second-line immunotherapy (P =.039). The presence of status epilepticus at admission was significantly associated with adverse outcomes and the development of autoimmune-related epilepsy (P =.019). Autoimmune-related epilepsy was defined in an equal proportion of patients (91.5%) with 2 immune epilepsy scores (Antibody Prevalence in Epilepsy and Response to Immunotherapy in Epilepsy). The N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status score and the modified Rankin score assessed for the first-year prognosis were strongly correlated among the patients with anti-N-methyl-d-aspartate receptor encephalitis (P =.03, Spearmen's rho = 0.751). Conclusions: The presence of status epilepticus was the most important prognostic factor in the patients with the adverse outcome. The studied scoring models (Anti-N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status, Antibody Prevalence in Epilepsy, and Response to Immunotherapy in Epilepsy) have also been proven to be applicable to the pediatric age group for predicting overall outcome and autoimmune-related epilepsy.Öğe The Association of Alagille Syndrome and Craniosynostosis(Elsevier Science Inc, 2013) Yilmaz, Sanem; Turhan, Tuncer; Mutluer, Saffet; Aydogdu, SemaAlagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cause of increased intracranial hypertension in Alagille syndrome. It has recently been demonstrated in animal models that Jaggedl gene in which mutations are responsible for Alagille syndrome may also take part in cranial suture formation. We report a child with Alagille syndrome and craniosynostosis who presented with pruritus, elevated liver enzymes, and suspected increased intracranial pressure. (C) 2013 Elsevier Inc. All rights reserved.Öğe The Association of Alagille Syndrome and Craniosynostosis(Elsevier Science Inc, 2013) Yilmaz, Sanem; Turhan, Tuncer; Mutluer, Saffet; Aydogdu, SemaAlagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cause of increased intracranial hypertension in Alagille syndrome. It has recently been demonstrated in animal models that Jaggedl gene in which mutations are responsible for Alagille syndrome may also take part in cranial suture formation. We report a child with Alagille syndrome and craniosynostosis who presented with pruritus, elevated liver enzymes, and suspected increased intracranial pressure. (C) 2013 Elsevier Inc. All rights reserved.Öğe The Association of Recurrent Peripheral Facial Palsy and Familial Mediterrenean Fever(Galenos Yayincilik, 2016) Yilmaz, Sanem; Aydin, IlyasRecurrent facial palsy is a rare disorder in childhood similar to adults. It can occur idiopathically as well as a result of nerve compression, infectious, inflammatory and vascular disorders. Familial Mediterrenean fever is a common disease in the Turkish population but neurological involvement such as headache, myalgia, demyelinationg lesions, aseptic meningitis, seizure or electroencephalographic abnormalities, is rarely reported. To date, peripheral facial palsy in association with Familial Mediterrenean fever is described in single cases both in adult and pediatric population. Moreover, recurrent peripheral facial palsy is described in only one pediatric case of Familial Mediterrenean fever.Öğe A Case of Neurobrucellosis Presenting With Isolated Intracranial Hypertension(Sage Publications Inc, 2011) Yilmaz, Sanem; Serdaroglu, Gul; Gokben, Sarenur; Tekgul, HasanDespite being a treatable and preventable zoonosis, brucellosis is still endemic in certain areas of the world. Nervous system involvement is a rare but an important complication of brucellosis in childhood. Neurobrucellosis should be taken into consideration in the differential diagnosis of any kind of neurological signs, particularly in endemic areas. The authors present a patient with neurobrucellosis who presented with isolated intracranial hypertension without any other systemic symptoms of brucellosis.Öğe Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder(Springer Heidelberg, 2021) Kanmaz, Seda; Simsek, Erdem; Yilmaz, Sanem; Durmaz, Asude; Serin, Hepsen Mine; Gokben, SarenurCerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active form of folaten in cerebrospinal fluid (CSF) arising from different causes such as FOLR1 gene mutations or autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus. It is characterized by late infantile onset refractory seizures, ataxia, movement disorder, and unexplained global developmental delay. Here, we report a patient diagnosed with autistic spectrum disorder, followed by refractory myoclonic-atonic seizures, ataxia, and loss of motor skills over time. A homozygous missense (c.665A > G) mutation in FOLR1 gene and extremely low CSF 5-methyltetrahydrofolate level led to the diagnosis of CFD. Although she was initiated on combined oral and intravenous high doses of folinic acid treatment at 6 years of age, mild improvement was achieved in terms of epileptic seizures and motor skills. It is important that CFD should be kept in mind in cases with refractory myoclonic-atonic seizure and folinic acid treatment should be started as soon as possible.Öğe Clinical spectrum, treatment and outcome of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease in children: a tertiary care experience(Springer Heidelberg, 2021) Serin, Hepsen Mine; Yilmaz, Sanem; Simsek, Erdem; Kanmaz, Seda; Eraslan, Cenk; Aktan, Gul; Gokben, SarenurAnti-myelin oligodendrocyte glycoprotein antibodies have been associated with a wide range of clinical presentations including monophasic and relapsing disease courses. Lack of a definitive marker for predicting further relapses and the final diagnoses complicates the clinical follow-up and treatment decisions for patients with the first episode. This study retrospectively analyzed the clinical spectrum, treatment protocols and outcome of nine children with MOG antibody-associated demyelinating disease. Diagnoses at first presentation were acute disseminated encephalomyelitis (ADEM) in six cases (67%), optic neuritis in two cases (22%), and clinically isolated syndrome in one case (11%). The disease remained monophasic in five (56%) cases. All cases with a monophasic disease course were negative for anti-MOG antibody titers in the third month. The initial diagnosis of all relapsing cases was ADEM. Three of the four cases with a relapsing disease course were available for anti-MOG antibody testing at the third month and all were positive, however, antibody titers at the sixth month were inconsistent. Cases with a relapsing disease course had no further attacks after monthly intravenous immunoglobulin treatment. Relapsing disease course is not rare in childhood MOG-antibody associated demyelinating disease. Monthly IVIG treatment may be a good alternative for the long-term treatment of relapsing cases with a low side effect profile. Anti-MOG antibody serostatus at remission periods should be interpreted cautiously. Further studies are needed to better understand and predict the clinical course of pediatric patients with MOG-antibody associated diseases.Öğe Comparison Between Simultaneously Recorded Amplitude Integrated Electroencephalography and Standard Electroencephalography in Neonates with Acute Brain Injury(Galenos Yayincilik, 2015) Akcay, Ayfer; Yilmaz, Sanem; Tanriverdi, Sema; Koroglu, Ozge Altun; Yalaz, Mehmet; Kultursay, Nilgun; Gokben, Sarenur; Tekgul, Hasan; Serdaroglu, GulAim: There are many risk factors that cause significant neurologic damage in term and preterm infants who need intensive care. For these patients brain injury prevention has become the main goal of modern neonatalogy. Observing brain functions with electroencephalography (EEG) in newborns may be helpful in determining patients who carry increased risk factors for neurologic morbidity. The aim of this study is to compare the results of the synchronous amplitude EEG (aEEG) and conventional EEG (cEEG) in cases with newborn encephalopathy. Materials and Methods: Fifty two newborns cases (27 term, 25 preterm) were included to Ege University, Faculty of Medicine Pediatrics Department Neonatal ICU with possible neurological risk, thus, with neonatal encephalopathy, neurologic disturbance, or severe respiratory distress syndrome (RDS). Amplitude EEG was performed for 24-48 hours. Amplitude EEG was assessed by a neonatalogist using Burdjalov scoring system. The results of simultaneously performed amplitude EEG and conventional EEG were compared. Results: The results of synchronous aEEG and cEEG were compared and there was significant difference between aEEG scores (between 0-13 points) and cEEG grade(grade 0-3) (p<0.05). Amplitude EEG detected seizures in 15 cases. No clinical seizure activity was noted in 8 (53%) of the cases during aEEG. Clinical seizures developed in 11 patients throughout aEEG recordings and 7 of these were detected (sensitivity 63.6%, positive predictive value 46.6%). It was assessed that the aEEG score of the patients who had clinical seizures was 4.26 +/- 3.17, the score of the cases who had no seizures was 6.29 +/- 2.6. The missing seizures in aEEG were myoclonic and brief seizures. Conclusion: Monitorization with aEEG is suggested in newborns with acute brain injury to follow up the electrophysiological seizures and electrophysiological alterations. Amplitude EEG gave similar results to cEEG in detection of background rhytm. It is an easily applicable and alternative method. However, the sensitivity of aEEG in detecting seizure activity is low, particularly the brief seizures can be missed by using aEEG alone. Therefore, in suspicion of clinical seizure activity, it should be confirmed by cEEG.Öğe Continuous EEG Monitoring in Critically Ill Children and Prognostic Factors for Short-term Outcome: An Observational Study(Galenos Publ House, 2022) Balci, Ozlem Ozdemir; Simsek, Erdem; Ozkaya, Pinar Yazici; Kanmaz, Seda; Dokurel, Ipek; Serin, Hepsen Mine; Yilmaz, SanemAim: To evaluate the association of etiology, continuous electroencephalography (cEEG) findings and neuroimaging findings with short-term outcomes for patients admitted to a pediatric intensive care unit (PICU) for acute encephalopathy. Materials and Methods: A total of 24 children admitted to a PICU for acute encephalopathy were enrolled into this study. The etiology, treatment, duration of stay in the PICU, their demographic information and their past medical history were recorded. cEEG was initiated as quickly as possible following admission to the PICU and continued for at least 24 hours. Their short-term prognosis was evaluated by the Pediatric Cerebral Performance Category score (PCPC) at PICU discharge. Results: The most common cause was traumatic brain injury comprising 25% (n=6) of all cases. Other common causes were asphyxia (hanging, foreign body aspiration, drowning) (n=4, 16.67%) and intoxication (n=3, 12.5%). Twenty-two patients underwent cranial imaging. The most common findings in CT were hemorrhage (n=6, 30%) and ischemia/edema (n=6, 30%). Fourteen patients had unfavorable PCPC outcome scores. There was a tendency for poorer outcomes in those patients with hemorrhage/fracture or ischemia/edema in the imaging and for those patients who needed either pre-hospital CPR or had non-convulsive seizures but without statistical significance. Conclusion: cEEG in critically ill children is useful for detecting both epileptic and non-epileptic events. The use of cEEG in PICUs can be helpful for the better management of cases.Öğe Determining Risk Factors of Epilepsy in Children with Cerebral Palsy: A Retrospective Study(Galenos Yayincilik, 2018) Gurkan, Ferda; Gokben, Sarenur; Serin, Hepsen Mine; Yilmaz, Sanem; Aktan, Gul; Tekgul, HasanAim: The aim of this study is to determine the risk factors of epilepsy development in children with cerebral palsy. Materials amd Methods: Data of 234 cerebral palsy patients followed at Ege University Pediatrics Department, Child Neurology Division between January 2008 and December 2015 were evaluated retrospectively. All patients were classified into two groups as Group I: cerebral palsy without epilepsy (n=116), and Group II: cerebral palsy with epilepsy (n=118). Clinical, laboratory findings of the groups were compared to each other, a p value of less than 0.05 was considered as statistically significant. Results: There was no significant difference between two groups in terms of gender, gestastional age, birth type, birth weight, risk factors for cerebral palsy development (pre-/peri-/postnatal), duration of neonatal intensive care stay and the need for mechanical ventilation(p>0.05).The risk factors of epilepsy were determined as the following; presence of neonatal convulsions, focal clonic and generalized tonic neonatal seizures, an abnormal baseline rhythm on neonatal electroencephalography (EEG), discharge from neonatal intensive care unit with at least one antiepileptic drug, spastic bilateral (tetraplegic) cerebral palsy, epileptic activity on the sixth month EEG, abnormal cranial MRI findings, mental retardation, microcephaly and visual problems. Conclusion: Epilepsy is a common problem in children with cerebral palsy. Therefore, cases of cerebral palsy, especially those with the determined risk factors should be closely monitored in terms of epilepsy for timely diagnosis and proper treatment.Öğe Different Neurologic Aspects of Nutritional B-12 Deficiency in Infancy(Sage Publications Inc, 2016) Yilmaz, Sanem; Serdaroglu, Gul; Tekgul, Hasan; Gokben, SarenurThe objective of this study is to evaluate neurologic problems caused by nutritional vitamin B-12 deficiency in infancy. Twenty-four cases between 2 and 18 months of age with neurologic symptoms and/or signs and diagnosed as nutritional vitamin B-12 deficiency were analyzed. The most common symptoms were developmental retardation, afebrile seizures, and involuntary movements. The mean vitamin B-12 levels were lower in patients with both neurologic and extraneurologic involvement when compared to those with only neurologic symptoms. All of the cases were treated with vitamin B-12. In patients with severe deficiencies, involuntary movements were observed during vitamin B-12 treatment using cyanocobalamin form. At the 1-year follow-up, all but 3 patients were considered neurodevelopmentally normal. The 3 patients that did not fully recover, on admission, had the lowest vitamin B-12 levels. It is of great importance to prevent, diagnose, and treat vitamin B-12 deficiency promptly to prevent the long-term neurologic problems.Öğe Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emery-dreifuss muscular dystrophy(Turkish J Pediatrics, 2020) Tekin, Hande; Yilmaz, Sanem; Tekgul, Hasan; Gokben, Sarenur; Aktan, GulDropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C> A) heterozygote mutation by the gene sequencing in the Lamin A/C associated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy.Öğe Early-Onset Acquired Myasthenia Gravis Secondary to Anti-Muscle-Specific Kinase Autoantibodies(Sage Publications Inc, 2014) Yilmaz, Sanem; Gokben, Sarenur; Serdaroglu, Gul; Akcay, AyferAutoimmune myasthenia gravis is rarely seen during infancy. Similar to adults, 85% to 90% of generalized pediatric myasthenia gravis cases have acetylcholine receptor antibodies. Approximately 30% of the remaining cases have antibodies against muscle-specific kinase. Information on the clinical course, treatment alternatives, and prognosis of pediatric muscle-specific kinase antibody-positive myasthenia gravis is limited because of the small number of cases. Here, we present a 14-month-old girl with muscle-specific kinase antibody-positive myasthenia gravis as one of the youngest patients described so far in the literature.Öğe The Effect of Vagal Nerve Stimulation on the Quality of Life in Pediatric Cases(Galenos Yayincilik, 2017) Tekin, Hande Gazeteci; Kose, Sezen; Gokben, Sarenur; Erermis, Serpil; Turhan, Tuncer; Tekgul, Hasan; Yilmaz, Sanem; Serdaroglu, GulAim: To evaluate the value of vagal nerve stimulation (VNS) in improving the quality of life, seizure frequency and mood in children with pharmacoresistant epilepsy. Materials and Methods: Eleven pharmacoresistant epileptic children implanted with the VNS therapy device between 2010-2014 were included in this prospective longitudinal study. Clinical assessment for the Diagnostic and Statistical Manual of Mental Disorders-IV psychiatric disorders, schedule for affective disorders, and schizophrenia for school children were applied. Childhood Depression Inventory (CDI), Beck Depression Inventory (BDI) were filled. Child Behavior Checklist (CBCL) and the Pediatric Quality of Life Inventory (PedsQL) were filled in by parents before the implantation. All of these tests were repeated in the first and second year of implantation. Results: Mean age at the first implantation of the VNS therapy device was 11.5 (2.5-16). Mean age was 13.9 (2.5-18) years. Mean duration of epilepsy prior to VNS implantation was 6.6 years, and VNS usage period was 30.4 months (10-96). International League Against Epilepsy classification of predominant seizure type was partial in seven, and generalized in four patients. Decrease in the number of seizures was 42% and 43% in the first and the second year respectively. While four of 11 patients had no psychopathology, different problems were determined in seven patients. There was no statistically significant difference between the scores of CDI/BDI, scores of CBCL and PedsQL prior to implantation, and also did not differ 1 year and 2 years after implantation. Conclusion: VNS is partially effective in controlling drug-resistant epilepsy. Although a positive effect on depression and quality of life is reported in literature, the results of this study were not statistically significant. We think that the scores of depression inventory should gradually decrease in years as it is reported for seizure frequency.Öğe Evaluation of ten prognostic factors affecting the outcome of West syndrome(Springer Heidelberg, 2016) Yilmaz, Sanem; Tekgul, Hasan; Serdaroglu, Gul; Akcay, Ayfer; Gokben, SarenurThe aim of this study is to assess the seizure and developmental outcome and to determine the prognostic factors affecting the outcome of West syndrome in an etiologically well-defined large cohort. Demographic features, treatment modalities, etiology, seizure and developmental outcome of 216 cases with West syndrome were recorded retrospectively. Ten prognostic factors possibly affecting the outcome of West syndrome including (1) gender, (2) age at the onset (3) presence of seizures prior to spasms, (4) presence of asymmetric spasm, (5) presence of abnormal neurological signs, (6) treatment lag, (7) etiology, (8) drug chosen as the initial treatment, (9) response to initial treatment regardless of the kind, (10) development of other seizure types after spasms were evaluated in terms of seizure and developmental outcome. Twelve percent of the cases were developmentally normal at the end of 2-year follow-up. Ongoing seizures requiring antiepileptic drug medication at the last follow-up were noted in 90 % of the cases. Hypoxia (29 %), metabolic disorders (11 %), infectious diseases (9 %) and cerebral developmental disorders (8 %) were the most frequent etiological factors. Five of the ten prognostic factors (presence of seizures prior to spasms, presence of abnormal neurological signs, response to initial treatment regardless of the kind, etiology and development of other seizure types after spasms) were found to be statistically significant prognostic factors predicting the outcome. In conclusion, West syndrome is still a catastrophic epileptic encephalopathy. Preventable causes still constitute a substantial portion of the etiological causes of West syndrome. Therefore, the prevention of avoidable causes is at least as important as the treatment.Öğe Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis(Springer, 2016) Yilmaz, Sanem; Turhan, Tuncer; Ceylaner, Serdar; Gokben, Sarenur; Tekgul, Hasan; Serdaroglu, GulÖğe The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder(Elsevier Science Bv, 2016) Yilmaz, Sanem; Gokben, Sarenur; Serdaroglu, Gul; Eraslan, Cenk; Mancini, Grazia M. S.; Tekin, Hande; Tekgul, HasanMutations in ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) gene was recently recognized to cause bilateral periventricular nodular heterotopia, putaminal hyperintensity and movement disorder. A ten year-old girl with severe developmental and growth delay, feeding problems and involuntary movements is presented. Bilateral periventricular nodular heterotopia and putaminal hyperintensity were detected in cranial magnetic resonance imaging. Her echocardiographic examination revealed left ventricular non-compaction cardiomyopathy. Sequence analysis of ARFGEF2 gene demonstrated a homozygous c.5126G>A, p.Trp1709* mutation. The mutation is the first nonsense mutation described in ARFGEF2 gene and the case is the second reported case of ARFGEF2 gene mutation with cardiomyopathy. The presented case supports the view that the presence of cardiomyopathy in ARFGEF2 gene mutations is more than a coincidence and thus expands the phenotypic spectrum of ARFGEF2 gene mutations. Mutations in the ARFGEF2 gene must be considered in the presence of bilateral periventricular nodular heterotopia and putaminal hyperintensity in children presenting with movement disorder, severe developmental delay and microcephaly. In case of ARFGEF2 gene mutation, screening for cardiomyopathy may be indicated. (c) 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.Öğe Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights(Sage Publications Inc, 2017) Yis, Uluc; Becker, Kerstin; Kurul, Semra Hiz; Uyanik, Goekhan; Bayram, Erhan; Haliloglu, Goknur; Polat, Ayse Ipek; Ayanoglu, Muge; Okur, Derya; Tosun, Ayse Fahriye; Serdaroglu, Gul; Yilmaz, Sanem; Topaloglu, Haluk; Anlar, Banu; Cirak, Sebahattin; Engel, Andrew G.Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylul University, Izmir, Turkey. In addition, PubMed was searched for published cases of genetically proven congenital myasthenic syndromes originating from Turkey. In total, the authors identified 43 (8 new patients, 35 recently published patients) cases. Defects in the acetylcholine receptor (n = 15; 35%) were the most common type, followed by synaptic basal-lamina associated (n = 14; 33%) and presynaptic syndromes (n = 10; 23%). The authors had only 3 cases (7%) who had defects in endplate development. One patient had mutation GFPT1 gene (n = 1; 2%). Knowledge on congenital myasthenic syndromes and related genes in Turkey will lead to prompt diagnosis and treatment of these rare neuromuscular disorders.Öğe Ictal urinary urge: localization and lateralization value in a pediatric case(Springer, 2015) Yilmaz, Sanem; Gokben, Sarenur; Turhan, Tuncer; Serdaroglu, Gul; Tekgul, HasanBackground Ictal urinary urge is a rare autonomic symptom usually lateralizing to the non-dominant hemisphere and localizing to the temporal lobe. A 12-year-old boy was referred with desire to void and contraction of the left arm. The history of the case revealed tickling and an unpleasant rising feeling in the stomach and sense of fear lasting for 1 year. He had been evaluated and treated several times with the diagnosis of gastroesophageal reflux and cystitis. His cranial MRI displayed an intra-axial mass formation on the right temporal lobe. Pathological findings were consistent with a low-grade glial mass. Ictal urinary urge has a considerable value both for localization and lateralization of seizures.
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