Çiğdem Genç Sel

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.

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.

Purpose Cerebral cavernous malformations (CCMs) are vascular abnormalities that have been reported in the literature to cause seizures, headaches, intracerebral hemorrhages, gait ataxia, and focal neurological deficits. This study aims to review pediatric cases of CCMs in a single reference center. Materials and methods The retrospective data files of 6 Turkish CCM patients were evaluated. All the patients underwent magnetic resonance imaging (MRI) studies that included diffusion-weighted imaging, and susceptibility-weighted imaging (SWI). During a detailed neurological examination, the clinical and family history, age at the onset of symptoms, detailed neuroimaging findings, electroencephalogram (EEG) records, and outcomes of the patients were documented. Results The female to male ratio was 3/3. The age at the onset of symptoms was between 2.25 and 11 years (mean: 17.37 ± 3.26 years). The neurological manifestations on admission were: intracranial hypertension and cerebral hemorrhages (n: 1), seizures (n: 2), speech delays and articulation phonation problems (n: 2), and specific learning disability disorders (n: 1). The common neuroimaging findings of all the patients were that all of them had CCMs on their SWI sequences and were type 4 on the Zambramski classification of cerebral cavernomas. Conclusions Specific learning disabilities, speech delays and phonation problems, and focal and multifocal epileptic EEG discharges, with or without clinical seizures, can be indicators of underlying pediatric CCMs. The sensitivity of SWI in detecting CCMs was very high in children, as all the patients’ lesions in this study were type 4 on the Zambramski classification of cerebral cavernomas.

Amaç: Yenidoğan konvulziyonları, yenidoğan döneminde akut nörolojik hastalıkların en yaygın semptomlarından biridir. Hastalarda ölüm, mental retardasyon ve postneonatal epilepsi riskini arttırdığı bilinmektedir. Bu çalışmada sebebi doğumsal hipoksik iskemik ensefalopati olmayan ve hastanemizde yenidoğan konvulziyonu sebebiyle takip edilmiş hastalarda etyolojik faktörler ile nörogelişim ve epilepsi ilişkisi ve risk faktörlerinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntemler: Bu çalışmaya hastanemiz nöroloji polikliniğinde takipli, Ocak 2010 - Aralık 2014 tarihleri arasında miadında doğan, doğumsal hipoksik iskemik ensefalopati öyküsü olmayıp, yenidoğan döneminde nöbet öyküsü olan, en az 1 yıl takibimizde kalan hastalar dahil edildi. Bulgular: Çalışmaya 49 hasta dahil edildi. İlk başvuru sırasında saptanabilen en sık etyolojik faktör, 11 (%40.74) hastada saptanan hipoglisemiydi. İzlemde hastaların %22.4’ünde (n=11) postneonatal epilepsi geliştiği görüldü. Bayley II testleri anormal saptanan 7 hastanın 4’ünde epilepsi geliştiği belirlendi. Yenidoğan döneminde başlanan tedaviye yanıtın olmaması, anormal nörolojik muayene bulgularının varlığı ve izlemde anormal EEG bulgularının olması, hastalarda postneonatal epilepsi gelişimi için risk faktörleri arasındaydı. Sonuç: Hipoglisemi, yenidoğan nöbetlerinde saptanabilen ve tedavi edilebilen sebeplerden bir tanesidir. Anormal nörolojik muayene bulguları, başlanan tedaviye alınan yanıtlar ve izlem EEG bulguları epilepsi gelişimi ile ilişkili görüldü. Bu konuda yapılmış olan çalışmaların çoğu, kısa gözlem süreleri sebebiyle sınırlıdır. Yenidoğan konvulziyonları ve postneonatal epilepsi gelişimi açısından daha fazla prognostik faktör belirlemek için daha fazla çalışmaya ihtiyaç vardır.

Hypomagnesemia is a rare cause of seizures in childhood. But should be in mind in recurrent and intractable seizures and hypocalcemia the communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia due to the variant in the transient receptor potential melastatin 6 genes. Here, a 3 year-old boy who has been identified a novel variant in this gene and had difficulties in enteral hypomagnesemia treatment was presented. We presented a 3 year-old boy having recurrent seizures since 2 years old and diagnosed as epilepsy and treated with multiple antiepileptic drugs. But then, he was diagnosed as rickets due to severe hypocalcemia an outer center. The patient was hypotonic and neurodevelopmentally poor. Our prominent laboratory finding was hypomagnesemia with secondary hypocalcemia. The genetic analysis revealed a novel variant in transient receptor potential melastatin 6 gene. After the parental treatment of intravenous magnesium sulfate and calcium, the treatment was switched to enteral magnesium medications. Because of persistent hypomagnesemia and the gastrointestinal side-effects, different oral preparations were used. The patient was stable on an oral maintenance dose of magnesium oxide with borderline blood magnesium levels without hypocalcemia. Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key in the treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment.

A specific learning disorder (SLD) is a neurodevelopmental disorder in which academic skills, such as reading, writing, and mathematics ability, are below the expected range. This study was conducted to determine the relationship between spike-wave index and SLD in children. We recruited 110 child psychiatry outpatients (38 girls, 72 boys) with SLDs for this study between January 2015 and March 2018. The mean ± standard deviation patient age was 9.17 ± 1.87 years. Electroencephalography (EEG) findings were abnormal in 20.9% of children. We found that children with expressive language delay and who were born prematurely had a significantly higher risk of spike-wave index. Attention deficit/hyperactivity disorder was present in 55.5% of children with SLD. This comorbidity was significantly higher in children with a history of prenatal smoking exposure or premature birth. The EEG findings were particularly important in cases of SLD in children who were born prematurely and had expressive language delay. The spike-wave index is a potential marker of SLD and can be easily and noninvasively detected by EEG.

Various typical and atypical neurological manifestations can be seen as the initial symptoms of celiac disease (CD). We suggest that gluten toxicity is the most suspicious triggering risk factor for probable pathophysiological pathways of neurological involvement in atypical CD. The medical charts of 117 patients diagnosed with atypical CD were retrieved from a tertiary center in Ankara, Turkey. Eight patients reported as having neurologic manifestations as initiating symptoms were evaluated in detail. The initial neurological manifestations of CD in our study included atypical absence, which was reported first in this study, generalized tonic–clonic seizures, complex partial seizures, severe axial hypotonia and down phenotype, multifocal leukoencephalopathy, mild optic neuritis, attention deficit hyperactivity disorder, and short duration headaches. Seizures mostly emphasizing atypical absence could be the initial presentation manifestation of CD, first described in this literature. Gluten toxicity could be one of the most powerful triggering factors for developing epilepsy in CD. Learning disorders such as attention deficit hyperactivity disorder, short duration headaches, mild optic neuritis, encephalopathy, and DS could also be the initial neurological manifestations of atypical CD. A gluten-restricted diet may improve neurological complaints, epileptic discharges, and neuropsychiatric symptoms. All we found may be a small part of the full range of neurological disorders of unknown origin related to CD. Clinical suspicion should be the rule for accurate diagnosis of the disease.