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To determine the prevalence of obesity and metabolic syndrome (MetS) in children and adolescents with type 1 diabetes (T1D) and to compare the widely accepted and used diagnostic criteria for MetS established by the International Diabetes Federation (IDF), World Health Organisation (WHO) and National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATPIII). We conducted a descriptive, cross sectional study including T1D patients between 8-18 years of age. The three sets of criteria were used to determine the prevalence of MetS and findings compared. Risk factors related to MetS were extracted from hospital records. The study included 200 patients with T1D (52% boys). Of these, 18% (n=36) were overweight/obese (body mass index percentile ≥85%). MetS prevalence was 10.5%, 8.5% and 13.5% according to IDF, WHO and NCEP criteria, respectively. There were no statistically significant differences in age, gender, family history of T1D and T2D, pubertal stage, duration of diabetes, hemoglobin A1c levels and daily insulin doses between patients with or without MetS. In the overweight or obese T1D patients, the prevalence of MetS was 44.4%, 38.8% and 44.4% according to IDF, WHO and NCEP-ATPIII criteria, respectively. Obesity prevalence in the T1D cohort was similar to that of the healthy population of the same age. Prevalence of MetS was higher in children and adolescents with T1D compared to the obese population in Turkey. The WHO criteria include microvascular complications which are rare in childhood and the NCEP criteria do not include a primary criterion while diagnosing non-obese patients according to waist circumference as MetS because the existence of diabetes is considered as a direct criterion. Our study suggests that IDF criteria which allows the diagnosis of MetS with obesity and have accepted criteria for the childhood are more suitable for the diagnosis of MetS in children and adolescents with T1D.

Background: Celiac disease (CD) is a multisystem immune-mediated disorder increasingly recognized to affect sleep and neurobehavioral functioning. Pediatric data remain limited, and no prior study has examined especially for sleep microstructure in this population. This study evaluates the prevalence and patterns of sleep disturbances in children with CD using the Sleep Disturbance Scale for Children (SDSC) and explores potential electrophysiological correlates through N2 sleep spindle analysis. Methods: Children with biopsy-confirmed CD (n = 31) and age-matched controls (n = 25) completed the SDSC. A subgroup of CD patients with SDSC ≥ 35 and healthy controls underwent quantitative sleep spindle analysis (C3, C4, O1, O2) using automated and visual verification methods combined. Results: Clinically significant sleep disturbances were substantially more prevalent in CD than in controls (77.4% vs. 12%). Excessive somnolence, sleep–wake transition disorders, and sleep hyperhidrosis were the most affected domains. Moreover, among children with CD, those noncompliant with a gluten-free diet exhibited higher rates of excessive somnolence and sleep–wake transition disorders. While spindle parameters did not differ between groups, higher SDSC scores (≥35)—particularly in the somnolence and sleep–wake transition disorder domains—are associated with reduced spindle amplitude and density, suggesting that spindle alterations are linked to sleep disturbance severity rather than disease status per se. Conclusions: Sleep disturbances are common in pediatric CD and worsen with poor dietary adherence. Although sleep microarchitecture is largely preserved, reduced spindle activity is evident in children with higher subjective sleep burden, suggesting that spindle metrics may serve as potential objective markers for sleep disturbance. Longitudinal studies are required for validation.

Aim: The aim of this study is to analyze children with acute carbon monoxide (CO) poisoning and to present two patients with rare neuroradiological findings. Materials and Methods: We identified and reviewed the medical records of pediatric patients diagnosed with acute CO intoxication who were hospitalized in our department during a 10-year period. Epidemiologic and clinical data were collected and analyzed. Results: A total of 326 children (166 girls, 160 boys; age range 1 to 17.8 years) with CO poisoning were identified. Their ages ranged from 1 to 17.8 years, with a mean of 8.3±4.8 years. Improperly vented coal or wood stoves were the most common (80.7%) cause of intoxication. The most common presenting symptoms were nausea/vomiting and headache. Seizure was seen in 32 patients (9.8%). Two patients died and the mortality was 0.6%. All patients received normobaric oxygen therapy until their carboxyhemoglobin (COHb) levels were decreased below 2% and their symptoms resolved. One hundred of the 326 patients (30.7%) also were treated with hyperbaric oxygen (HBO) therapy as indicated by the signs and symptoms or COHb levels. Brain imaging was performed in 19 patients (thirteen magnetic resonance imaging and six computerized tomography), and was normal in 15. Acute brain stem demyelination related to water pipe smoking developed in one patient. All patients showed complete recovery without neurological sequelae except one who had mild right hemiparesis at discharge. Conclusion: Acute CO intoxication is an important health problem in our country, especially in winter, because of poorly functioning heating systems. The clinical spectrum including neurological findings varies during childhood. We suggest that HBO therapy could be used safely in children. We believe that the combined administration of pulse methylprednisolone and HBO treatment might reduce cerebral damage caused by CO poisoning in selected pediatric patients.

Pseudotumour cerebri (PTC) is traditionally defined as increased intracranial pressure (ICP) >200 mmH2O with non-focal neurological findings, except the sixth-nerve palsy, and normal cerebrospinal fluid (CSF) composition without brain pathology or evidence of venous thrombosis. A 6-years-old girl was referred to our clinic for blurred vision in her left eye and a progressive headache. Her history was positive for a progressive vision loss in the left eye. Both optic disks were blurred and swollen. The opening pressure of CSF was 310 mm/H2O. Despite the repeated lumbar punctures (LP) and medical treatment, the patient had to undergo the optic nerve sheath fenestration. A consequent shunt procedure had to be performed due to a persistently high CSF level. In this report, we emphasize that if surgical procedures can be applied earlier in refractory PTC cases, better results of visual improvement may be observed. In this report, we emphasize that early surgical treatment in refractory PTC cases results in better visual improvement.

[LANGUAGE= \"English\"] INTRODUCTION: This study aims to investigate the knowledge levels and attitude of pediatricians and pediatric residents toward spinal muscular atrophy (SMA), which is one of the most frequent neuromuscular diseases and the second most common cause of mortality among autosomal recessive diseases.METHODS: Pediatric residents and pediatricians were asked to answer a questionnaire consisting of 27 questions prepared by the authors. The questionnaire investigated knowledge levels and attitudes concerning genetic, pathophysiologic, and laboratory characteristics, in addition to follow-up and management features of SMA. The questionnaire was distributed using Google Forms (Google LLC, Mountain View, CA, USA).RESULTS: Ninety-three physicians (48.4% (n=45) pediatricians, 15.1% (n=14) fellows, and 36.6% (n=34) pediatric residents) responded to the questionnaire. Of these, 56 (60.2%) had experience of working in a pediatric clinic for more than 5 years and 95.7% (n=89) had followed an SMA patient. Sixty-eight (73.1%) of the participants knew that a deletion in exon 7–8 was the cause of SMA in more than 95% of patients, 83 (89.2%) knew that it was characterized by progressive loss of motor neurons in the anterior horn, 86 (92.5%) knew that SMA classification was made based on the onset time of symptoms and genetic features, and 92 (98.9%) believed that SMA subtypes could define the prognosis. Ninety (96.8%) stated that the most important cause of mortality was the involvement of accessory respiratory muscles.DISCUSSION AND CONCLUSION: This study revealed that physicians possess a satisfactory level of knowledge concerning the symptomatology, diagnostic algorithm, and follow-up features of SMA disease, which has become more popular following the development of treatments that could prolong survival and improve the quality of life. Modern treatment options are expected to change the natural course of the disease, and pediatricians are expected to stay up-to-date with the changing algorithms for diagnosis, follow-up, and treatment.

Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite diagnoses, two possible diagnoses and eight secondary findings. Surprisingly, common pathogenic mtDNA variants found in people of European ancestry were very rare. Whole‐exome or ‐genome sequencing from undiagnosed patients with neuromuscular symptoms should be re‐analysed for mtDNA variants, but the landscape of pathogenic mtDNA variants differs around the world.