Mustafa Komur

Çocukluk çağında baş ağrısı, çoğu zaman tek bir tanıdan ziyade farklı patofizyolojik mekanizmalarla ortaya çıkabilen bir semptom kümesi olarak değerlendirilmelidir. Klinik yaklaşımın temel hedefi, çocuklarda primer baş ağrılarının sık görüldüğünü akılda tutarken, sekonder ve klinik açıdan önemli nedenleri gecikmeden ayırt edebilmektir. Bu bölümde baş ağrısının kavramsal çerçevesi ve ağrıya duyarlı yapıların fizyolojik temeli kısaca gözden geçirilmekte; primer–sekonder ayrımı, çocukluk çağındaki sınıflama özellikleri ve zamansal seyirden etiyolojiye uzanan klinik yaklaşım ele alınmaktadır. Sekonder baş ağrıları, patofizyolojik mekanizmalar ekseninde pratik kümeler halinde yapılandırılarak klinik karar vermeyi kolaylaştıran bir harita sunulmaktadır. Buna ek olarak klinik pratikte sık karşılaşılan yanıltıcı senaryolar ve tanısal yanılgılar, ayırt edici ipuçları eşliğinde tartışılmakta; gereksiz incelemeleri azaltırken ciddi sekonder nedenlerin gözden kaçırılmadığı dengeli bir klinik yaklaşım hedeflenmektedir. Headache in childhood should be considered not as a single diagnostic entity but as a constellation of symptoms that may arise from diverse pathophysiological mechanisms. The primary goal of the clinical approach is to promptly identify secondary and clinically significant causes while acknowledging the high prevalence of primary headache disorders in children. This chapter briefly reviews the conceptual framework of headache and the physiological basis of pain-sensitive intracranial structures, and discusses the distinction between primary and secondary headaches, age-specific classification characteristics, and a structured clinical approach extending from temporal patterns to etiological assessment. Secondary headaches are organized into practical pathophysiology-based clusters, providing a clinical framework that facilitates diagnostic reasoning. In addition, common misleading scenarios and diagnostic pitfalls encountered in clinical practice are examined alongside key discriminative features, with the aim of minimizing unnecessary investigations while avoiding delayed recognition of serious secondary causes.

Objective: Hyperekplexia is a rare, treatable neurogenetic disorder often misdiagnosed as epilepsy, leading to unnecessary interventions. This study aims to characterize the clinical and genetic features of Turkish patients with hyperekplexia and highlight genotype-phenotype correlations. Methods: We retrospectively analyzed 16 patients diagnosed with hyperekplexia across five tertiary centers in southern Turkey from 2011 to 2025. All patients underwent genetic testing via Next-Generation Sequencing (NGS). Clinical features, treatment responses, and neurodevelopmental outcomes were evaluated according to specific gene mutations (GLRA1, SLC6A5, and GLRB). Results: All patients (100%) presented with exaggerated startle responses and non-epileptic tonic attacks but were initially misdiagnosed with epilepsy. Genetic analysis revealed GLRA1mutations in 56% (n=9), SLC6A5 in 25% (n=4), and GLRB in 19% (n=3). We identified a homozygous nonsense mutation in the GLRB gene (c.995G>A; p.Trp332Ter) in three patients from the same family. Genotype-phenotype correlation revealed distinct patterns: while patients with GLRA1 and SLC6A5 mutations generally responded well to clonazepam, those with the GLRB mutation exhibited severe global neurodevelopmental delay, autism spectrum features, and required levetiracetam due to poor response to benzodiazepines. Conclusion: Hyperekplexia should be strongly considered in infants with exaggerated startle reflexes to prevent potential developmental consequences of delayed diagnosis. Furthermore, this study confirms that GLRB variants may be associated with a more complex phenotype, including autism and resistance to standard benzodiazepine therapy.

Background: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated. Results: Fifty-four patients (mean age:15.2 years (±5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70.5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (±4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. Conclusions: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature.

Aim: Our study was aimed to determine both demographic and clinical data of patients with symptomatic West Syndrome (WS) and to monitor their neurocognitive development with Bayley Scales of Infant and Toddler Development Screening Test, third edition (Bayley-III) test. Materials and Methods: Fourteen symptomatic WS patients were included in our study. Clinical and demographic data, electroencephalogram (EEG) findings, treatment response, Bayley III developmental test results were recorded before starting the treatment (T0) and in the 12th months of the treatment (T1 and T12). Results: Patients had a significant increase in Bayley-III test scores in all areas at the end of one year (p 0.05). Conclusion: It has been shown that the neurocognitive level gradually improves even in symptomatic type WS with effective treatment during the follow-up of the disease or with the improvement of the EEG findings and seizure control.

Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation were collected at a single visit. A total of 1194 patients were enrolled. Regarding immunization records, the most frequently administrated and schedule completed vaccines were BCG (90.8%), hepatitis B (88.9%), and oral poliovirus vaccine (88.5%). MMR was administered to 77.3%, and DTaP-IPV-HiB was administered to 60.5% of patients. For the pneumococcal vaccines, 54.1% of children received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age. The influenza vaccine was administered only to 3.4% of the patients at any time and was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1–3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians’ influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029). Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known: • Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections. • Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases. What is New: • Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly. • Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations.

Background Prematurity constitutes a risk factor for developmental delay in infancy and childhood. This study aims to: 1) determine long‐term cognitive outcome in prematurely delivered children and compare with term‐delivered children using WISC‐IV and Stroop tests, 2) examine the relation Denver II, Bayley III and WISC‐ IV, Stroop tests Methods The study group consisted of children born prematurely who had been tested with Denver II and Bayley III in their first 2 years, been under follow‐up and were evaluated with WISC‐IV and Stroop tests 6‐10 years later. Results The study group (n=60, 25 F, 35 M) was 8,0 ± 2,4 (6‐10.7) years old when given WISC‐IV and Stroop tests. Gestational age in the study group was 34‐37 weeks in 25%, 30‐ 33 weeks in 48.3%, and <29 weeks in 26.7%. On WISC‐IV the verbal comprehension index, perceptual reasoning index, working memory index and full‐scale IQ scores were lower in the study group compared to the control group (p<0.05). The study group took longer to complete the Stroop test (p<0.05). Lower socioeconomic status (p=0,005) and parental education level (p=0,000) were associated with lower verbal comprehension index. Denver II and Bayley III test results were related to WISC‐IV results (p0.05). Conclusion Our results showed prematurity negatively influences the results of WISC‐IV and Stroop tests at school age. Denver II and Bayley III tests applied at age 2 years likely predict WISC‐IV results.

Purpose To evaluate neurological development of completely healthy children with anterior fontanelle premature closure via Denver Developmental Screening Test II and to compare the results with control group. Method and results The records of 140 patients applied to Mersin University Pediatric Neurology Outpatient Clinic between 2011 and 2019 with the complaint of premature closure of the anterior fontanelle were retrospectively reviewed. Patients with microcephaly, craniosynostosis, infection, sequelae of hypoxia-ischemia, metabolic disorders, intracranial hemorrhage, epilepsy, endocrine problems, and dysmorphic features were excluded from the study. Sixty-six completely healthy children with anterior fontanelle premature closure were included in the study. Denver Developmental Screening Test II was performed by the same developmental specialist to the children with premature closure of the anterior fontanelle as well as to the healthy control group. For each child included in the case and the control group, 90% of the values for each development area were calculated and recorded. Then, the results were compared. Denver II Developmental Screening Test (p < 0.001) and gross motor subtest (p < 0.001) results showed statistically significant retardation in the case group compared with the control group. Conclusions The study was the first study in the literature on the gross motor development of children with premature closure of anterior fontanelle, and it has been found significantly undeveloped compared with the control group, and it has been concluded that similar patients should be evaluated from this view point in pediatric neurology department.

The objective of the study is to evaluate the clinical and neuroradiological findings, the risk factors for recurrence and the prognosis in patients with posterior reversible encephalopathy syndrome developed secondary to acute hypertension in children. The study was conducted between 2008 and 2019 at Mersin University Faculty of Medicine. A total of 49 episodes were evaluated retrospectively in 38 patients with PRES secondary to acute hypertension. The demographic data, etiology, and clinical and neuroradiological findings were recorded. Twenty-one (55.3%) patients were female; the mean age was 11.8 years. The etiology of acute hypertension in 29 (76.3%) patients was end-stage renal disease (ESRD). The most common clinical findings were seizure (81.6%) and altered consciousness (79.6%). Status epilepticus developed in eight (16.3%) episodes. MRI lesions were atypical in 33 episodes (67.3%). In eight (21%) patients, PRES recurred. Irreversible brain damage was detected after PRES in three (7.8%) patients. C-reactive protein and erythrocyte sedimentation rate were elevated in 82.2% and 71.4% of the episodes, respectively. A statistically significant relationship was found between the recurrence, the duration of hospitalization at the PICU, SE and the occurrence of irreversible lesion (p = 0.013, p = 0.015, p = 0.001 respectively). Also, there were statistically significant relationships between recurrence and ESRD; epilepsy and recurrences; SE and irreversible brain damage (p = 0.02, p = 0.012, p = 0.025 respectively). Although PRES is usually known to have a good prognosis, the mortality and morbidity rates may increase in the long-term follow-up as in our study. In this study, the etiology, the presence of status epilepticus, PICU history, atypical MRI lesions and increased inflammatory markers were found to be important for the prognosis in PRES.