Ülkühan Öztoprak

This study aimed to investigate cardiac involvement in children and adolescents with neurofibromatosis type 1 (NF1), and to describe clinical correlates. Medical records of 114 NF1 patients (ages 1-18 years) followed at a tertiary center (2011–2017) were retrospectively reviewed. Among these patients, 58 (50.9%) underwent pediatric cardiology assessment with echocardiography (ECHO) and electrocardiography (ECG). ECHO abnormalities were defined a priori (valvular disease, septal hypertrophy, septal defects, and pulmonary valve stenosis); patent foramen ovale (PFO) was considered a normal variant. Demographics and NF1 features were compared between patients with and without cardiac pathology. Among the 58 evaluated patients, ECHO was abnormal in 18/58 (31.0%; 95% CI 20.6–43.8) and 1/58 (1.7%; 95% CI 0.3–9.1) had isolated ventricular extrasystoles, yielding 19/58 (32.8%; 95% CI 22.1–45.6) with any cardiac pathology. Valvular involvement occurred in 13/58 (22.4%; 95% CI 13.6–34.7); septal hypertrophy and septal defects each in 3/58 (5.2%; 95% CI 1.8–14.1); pulmonary valve stenosis in 1/58 (1.7%; 95% CI 0.3–9.1). No statistically significant difference in age, sex, or NF1 diagnostic features was observed between those with vs. without cardiac pathology (all p>0.05). Cardiac pathology was common among NF1 patients referred for cardiology evaluation, with valvular disease predominating. Given retrospective design and potential referral/selection bias, a routine baseline cardiology assessment at NF1 diagnosis appears reasonable, with a low threshold for follow‑up when symptoms, murmurs, or risk factors are present.

Objective: Chorea is a rare hyperkinetic movement disorder in children, characterized by involuntary, irregular, and rapid movements. Sydenham’s chorea (SC), an autoimmune complication of rheumatic fever, is the most common cause of chorea in pediatric populations. This study aims to retrospectively evaluate the clinical features, neuroimaging findings, treatment responses, and prognostic factors in children with choreiform movement disorders, with a focus on relapse rates and treatment efficacy.Materials and Methods: We conducted a retrospective review of pediatric patients diagnosed with choreiform movement disorders at Dr. Sami Ulus Children's Hospital between 2010 and 2018. Demographic data, clinical presentation, neuroimaging findings, treatments, and relapse outcomes were analyzed.Results: Of the 74 patients, 94.6% had secondary chorea, with 91.9% diagnosed with SC. The mean age at diagnosis was 133.5 ± 33.9 months, with 71.2% female. Brain magnetic resonance imaging findings were normal in 71.4% of the patients who underwent it. Haloperidol was the most commonly used treatment, with 87.3% of SC patients showing a positive response. Relapse occurred in 11.6% of patients, with no significant differences in symptom duration, treatment duration, or age at diagnosis between those with and without relapse (p > 0.05). The median time to relapse was 21 months.Conclusion: SC is the most common cause of chorea in children, and haloperidol is an effective first-line treatment. However, relapses remain a concern, highlighting the need for long-term follow-up. No significant differences were found in clinical parameters between relapsing and non-relapsing patients. Further research is needed to identify relapse predictors.

Epilepsi cerrahisinin ana hedefi, hastada herhangi bir nörolojik defisite yol açmaksızın nöbetsizlik sağlamaktır. Bu amaçla, invazif elektrotlar (subdural elektrot veya derinlik elektrodu) aracılığıyla kortikal stimülasyonla haritalama yapılması, rezektif cerrahi öncesi kritik korteks sınırlarını belirlemek için altın standarttır. Çocuklara özgü stimülasyon stratejileri ile erken çocukluk döneminde bile kritik korteks fonksiyonları doğru haritalanabilir. Fonksiyonel haritalama sonuçları, invazif elektroensefalografi verileri ile birleştirildikten sonra, kritik korteks ve epileptojenik bölge ilişkisi belirlenebilir ve güvenli rezeksiyon planlanabilir. The main goal of epilepsy surgery is to achieve seizure freedom without causing any neurologic deficit in the patient. To this end, mapping with cortical stimulation via invasive electrodes (subdural electrode or depth electrode) is the gold standard for determining critical (eloquent) cortical boundaries before resective surgery. With child-specific stimulation strategies, critical cortical functions can be accurately mapped, even in early childhood. Once the functional mapping results are combined with invasive electroencephalography data, the relationship between critical (eloquent) cortex and epileptogenic zone can be determined and safe resection can be planned.

Introduction: Despite the developments in pharmacologic treatments, traditional and complementary therapies have recently gained popularity in our country, as well as around the world. Aim: To question complementary and alternative medicine practices CAMP during clinical visits of pediatric neurology patients, to raise awareness of families and patients about the use of complementary and alternative medicine, and to prevent possible negative interactions. Methods: This prospective survey study was conducted with the parents of 300 pediatric patients aged between 6 months and 18 years, who were being treated at the Child Neurology Clinic between March 1st and May 30th, 2020. For the study, 360 patients’ parents who came to the Pediatric Neurology clinic for treatment were randomly selected, and a face-to-face survey lasting 2 minutes was conducted with 300 patients’ parents who agreed to participate in the study. This study was approved with the decision number E-20-12-62 at the meeting dated 21.12.2020 of the Clinical Research Ethics Committee of SBU Ankara Dr Sami Ulus Gynecology and Childhood Health and Diseases Training and Research Hospital. Results: Three hundred parents (56% women) participated in the study. Just over half (55.3%) of the patients were followed up with a diagnosis of epilepsy, 56.6% of the parents stated that they had used traditional and complementary therapy methods before, 43.4% stated that they did not use it, 46.54% stated that they used prayer and 23,9% used vitamin methods, respectively. Conclusion: In neurologic diseases, parents use traditional and complementary therapies as treatment methods, creating an alternative to modern medicine. Families and patients should be informed by investigating the reasons and frequency of using traditional and complementary therapies, raising the awareness of parents, and determining the possible harm caused by traditional and complementary therapies.

Background: Headache in pediatric age group is one of the common causes of admission to both general pediatrics and pediatric neurology outpatient clinics. The aim in this study was to retrospectively evaluate the clinical and laboratory findings of our cases diagnosed with migraine. Material and methods: Between 2013 and 2016, patients who applied to the Pediatric Neurology Outpatient Clinic of Dr. Sami Ulus Pediatrics Training and Research Hospital and were diagnosed with migraine were included. Statistical comparison was made between subgroups, which were migraine with aura and migraine without aura. Results: In present study, 11.6% of the patients who applied with the complaint of headache consisted of patients diagnosed with migraine. It was determined that 18.8% (n:27) of migraine patients were under the age of 10, and 81.3% (n:117) were over the age of 10. Forty-four (48.4%) female patients and 13 (24.5%) male patients had migraine with aura, and there was a statistically significant difference in terms of gender (p=0.008). Also there was a statistically significant difference between the mean age and gender of migraine patients with aura and migraine without aura (p=0.017). Conclusion: Since migraine is a chronic disease which is observed more frequently than estimated during childhood. We shared the results of the findings that may make us think of the diagnosis of migraine at the first admission, and may also guide us for migraine with aura in a patient followed up with a diagnosis of migraine.

Background Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.Methods In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.Results Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively.Conclusion Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.