Arzu Eroğlu

Aims: Occipital lobe epilepsy (OLE) is a rare focal epilepsy syndrome, and structural brain alterations in children with non-lesional OLE remain poorly understood. This study aimed to evaluate global and regional brain volumetric characteristics using automated magnetic resonance imaging (MRI) volumetric analysis in children with non-lesional OLE. Methods: This retrospective case-control study included 12 children diagnosed with non-lesional OLE and 10 age- and gender-matched controls who underwent brain MRI for headache evaluation and had no structural abnormalities on conventional MRI. High-resolution three-dimensional T1-weighted brain MRI acquired using a 1.5-T scanner was analyzed with the automated vol2Brain platform. Global volumetric measurements included intracranial volume, total brain volume, gray matter volume, white matter volume, hippocampal volume, amygdala volume, and thalamic volume. Regional analyses included total occipital lobe volume, occipital cortical thickness, calcarine cortex, cuneus, lingual gyrus, inferior, middle, and superior occipital gyri, and occipital pole. Volumetric measurements were compared between the two groups. Results: No statistically significant differences were observed between children with OLE and controls regarding global brain volumes, subcortical structures, total occipital lobe volume, occipital cortical thickness, or regional occipital volumetric measurements (all uncorrected p>0.05). None of the volumetric comparisons was statistically significant after Benjamini-Hochberg false discovery rate (FDR) or Bonferroni correction. Conclusion: Children with non-lesional OLE did not demonstrate statistically significant global or regional brain volumetric differences compared with controls. The present findings therefore do not establish a specific volumetric pattern in pediatric non-lesional OLE and should be considered exploratory given the small sample size. Larger multicenter studies are needed to determine whether reproducible structural abnormalities can be identified in pediatric non-lesional OLE.

Background: Developmental and benign movement disorders (DBMD) are a common but often under-recognized cause of referral in children with suspected seizures, frequently leading to misdiagnosis and unnecessary treatment. Methods: This retrospective cohort study included 453 children evaluated for suspected seizures between January 2019 and January 2024. Patients with epilepsy, cerebral palsy, metabolic disorders, significant developmental delay, psychiatric conditions, or structural brain abnormalities were excluded. DBMD was diagnosed in 113 patients based on clinical evaluation by experienced pediatric neurologists and established diagnostic criteria. Demographic characteristics, diagnostic distribution, age at presentation, and electroencephalography (EEG) findings were analyzed. Prevalence was calculated with 95% confidence intervals (CIs). Group comparisons were performed using chi-square tests and one-way ANOVA with Tukey post hoc analysis. Results: The prevalence of DBMD was 24.9% (95% CI: 21.2–29.1), corresponding to nearly one in four children referred with suspected seizures. Breath-holding spells were the most common diagnosis (6.6% of the total cohort; 26.5% of DBMD cases), followed by Sandifer syndrome and non-epileptic staring episodes. Age at presentation differed significantly between diagnostic groups (p = 0.001), with breath-holding spells occurring at younger ages and staring episodes at older ages. EEG findings were normal in 80.5% of patients, and no diagnosis-specific epileptiform patterns were identified. No patients were observed to develop epilepsy during the follow-up period. Conclusions: DBMD accounts for a substantial proportion of children referred for suspected seizures. Recognition of age-specific clinical patterns and predominantly normal EEG findings may improve diagnostic accuracy and help avoid unnecessary investigations and antiepileptic treatment.

Background: Juvenile Myoclonic Epilepsy (JME) is one of the most common idiopathic generalized epilepsies, typically emerging during adolescence. Despite its characteristic clinical and EEG features, diagnosis may sometimes be delayed. Objectives: The aim of this study is to determine the frequency of juvenile myoclonic epilepsy (JME) among generalized epilepsies in children and the issues that should not be overlooked in its clinical course. Materials and Methods: This retrospective cross-sectional study was conducted between 2017 and 2019 at Necmettin Erbakan University Meram Faculty of Medicine, Department of Pediatric Neurology, Electroencephalography (EEG) Unit. A total of 300 patients with generalized epilepsy were studied. A total of 3600 EEG recordings were evaluated in detail by the same pediatric neurologist. Results: JME was detected in 8% of the patients; 80% of the patients were female, 20% were male, median age was 15 years (6–17 years), 44% of the patients had a family history of seizures, and 68% had parental consanguinity. Late diagnosis was observed in 4% of JME patients. The most common myoclonic seizures in both groups consisted of eyelid twitching, continuous hand tremor, and accidental dropping of an object in the hand. The mean time from first seizure to correct diagnosis was 2 years (1–6 years). Conclusions: This study demonstrates that in patients with undiagnosed generalized epilepsy in childhood, seizure characteristics should be assessed through a thorough review of their medical history and careful monitoring during clinical follow-up to accurately determine the true incidence of JME.

Background& Objective: Giant axonal neuropathy (GAN) is a serious progressive neurodegenerative disease. The aim of this study is to evaluate the frequency and phenotypic-genotypic characteristics of GAN patients, which, like many rare diseases, is disguised under the name of polyneuropathy, and to present our experience. Methods: In this retrospective observational study, 105 pediatric patients with polyneuropathy were screened. Demographic characteristics and clinical diagnoses were reviewed. The mean age of the patients was 10.9 years (2-18), 59 were boys (56%) and 46 were girls (44%). GAN patients who were genetically diagnosed by single gene analysis were clinically evaluated in detail. Results: Regarding the etiology of polyneuropathy, 43% of patients had acquired and 57% had hereditary causes. Among hereditary cases, 29% had an unknown diagnosis, and 5% were diagnosed with GAN, presenting first with gait disturbance. These patients exhibited axonal sensorimotor polyneuropathy and diverse hair types (20% straight, 20% kinky, 40% curly, 20% slightly curly). Findings included carious teeth (40%), hyperplexia (20%), and apnea (20%). Disease progression included worsening scoliosis and limb deformities (pes cavus), with pathological cranial MRI findings. Literature identified 5 GAN patients with a homozygous deletion of GAN gene exon 2-5, classified as likely pathogenic (Class 4). Conclusion: This study highlights the frequency of GAN among undiagnosed polyneuropathies in childhood. Although the phenotype-genotype correlation for giant axonal neuropathy has not yet been determined, we hope that further studies in the field of molecular biology will increase the chances of a better quality of life.