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Background: Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness, hyperpigmented papules over extensor surfaces of joints, fleshy perianal masses, severe diarrhea, and gingival hypertrophy. The severity of the disease varies and prognosis is poor. No specific treatment is yet available. Most patients with the severe form of the condition pass away before the second year of age. In this study, we describe the clinical and molecular findings of a cohort of seven hyaline fibromatosis syndrome patients who were diagnosed and followed up at a single tertiary reference center in Turkey., Methods: Genomic DNA was extracted by standard salting out method from peripheric blood samples of three patients. In one patient DNA extraction was performed on pathology slides since peripheric blood DNA was not available. All coding exons of the ANTXR2 were amplified and sequenced on ABI Prism 3500 Genetic Analyser., Results: Sanger sequencing was performed in 3 patients and homozygous c.945T>G p.(Cys315Trp), c.1073dup p.(Ala359CysfsTer13), and c.1074del p.(Ala359HisfsTer50) variants were identified in ANTXR2. All patients passed away before the age of five years., Conclusions: HFS is a rare, progressive disorder with a broad phenotypic spectrum. HFS can be recognized easily with distinctive clinical features. Nevertheless, it has poor prognosis with increased mortality due to severe clinical decompensation., Competing Interests: The authors declare that there is no conflict of interest.

Introduction: Earthquakes rank among the most deadly natural disasters, and children are particularly affected due to their inherent vulnerability. Following an earthquake, there is a substantial increase in visits to emergency services. These visits stem not only from patients seeking care for physical traumas resulting from the earthquake and its subsequent complications, but also from individuals affected by the circumstances created by the disaster., Study Objective: This study aims to determine the characteristics and outcomes of children who presented to the pediatric emergency department (PED) after the earthquake and to evaluate children who had crush injuries at a referral tertiary university hospital away from the earthquake area., Methods: The medical records of children who presented to the PED from the earthquake area from February 6 through March 7, 2023 were retrospectively reviewed. Children rescued from under rubble were categorized as Group 1, those affected by earthquake conditions as Group 2, and patients seeking medical attention due to the follow-up of chronic illnesses were considered as Group 3. Patient data, including sociodemographic characteristics, time period under rubble (TPR), laboratory findings, and details of medical and surgical procedures, developing acute kidney injury (AKI), and the requirement for hemodialysis were recorded., Results: A total of 252 children were enrolled in the study, with 52 (20.6%) in Group 1, 180 (71.4%) in Group 2, and 16 (6.0%) in Group 3. The median age was six (IQR = 1.7-12.1) years. In the first group (n = 52), 46 (85.2%) children experienced crush injuries, 25 children (46.3%) developed crush syndrome, and 14 of them (14/25; 56.0%) required dialysis. In the second group, the most common diagnoses were upper respiratory tract infections (n = 69; 37.9%), acute gastroenteritis (n = 23; 12.6%), simple physical trauma (n = 16; 8.8%), and lower respiratory tract infections (n = 13; 7.1%). For children in the third group, pediatric neurology (n = 5; 33.3%), pediatric oncology (n = 4; 25.0%), and pediatric nephrology (n = 3; 18.8%) were the most frequently referred specialties., Conclusion: Crush injuries, crush syndrome, and AKI were the most common problems in the early days following the earthquake. Along with these patients, children who were affected by the environmental conditions caused by the earthquake, as well as children with chronic illnesses, also accounted for a significant portion of visits to the PED, even if they were distant from the disaster area.

Background: Management of pediatric patients presenting with first seizure is challenging, especially with regards to emergent neuroimaging. The rate of abnormal neuroimaging findings is known to be higher in focal seizures than in generalized seizures, but those intracranial abnormalities are not always clinically emergent. In this study, we aimed to determine the rate and indicators for clinically important intracranial abnormalities that change acute management in children presenting with a first focal seizure to the pediatric emergency department (PED)., Methods: This study was conducted retrospectively in the PED at a University Children`s Hospital setting. The study population consisted of patients aged between 30 days and 18 years with first focal seizure and who had emergent neuroimaging at the PED between the years 2001 and 2012., Results: There were 65 eligible patients meeting the study criteria. Clinically important intracranial abnormalities requiring emergent neurosurgical or medical intervention were detected in 18 patients (27.7%) at the PED. Four patients (6.1%) underwent emergent surgical procedures. Seizure recurrence and the need for acute seizure treatment in the PED were significantly associated with clinically important intracranial abnormalities., Conclusions: Neuroimaging study yielding of 27.7% shows that first focal seizure must be evaluated meticulously. From the emergency department`s point of view; we suggest that first focal seizures in children should be evaluated with emergent neuroimaging, if possible with magnetic resonance imaging. Especially patients with recurrent seizures at presentation requires more careful evaluation.

Background: The aim was to evaluate the epidemiological, clinical, laboratory, and radiologic data of children with SARS-CoV-2 positivity by polymerase chain reaction (PCR) together with treatment strategies and clinical outcomes and to evaluate cases of multisystem inflammatory syndrome in children (MIS-C) in this population., Methods: This was a multicenter retrospective observational cohort study performed in the pediatric emergency departments of 19 tertiary hospitals. From March 11, 2020, to May 31, 2021, children who were diagnosed with confirmed nasopharyngeal/tracheal specimen SARS-CoV-2 PCR positivity or positivity for serum-specific antibodies against SARS-CoV-2 were included. Demographics, presence of chronic illness, symptoms, history of contact with SARS-CoV-2 PCR-positive individuals, laboratory and radiologic investigations, clinical severity, hospital admissions, and prognosis were recorded., Results: A total of 8886 cases were included. While 8799 (99.0%) cases resulted in a diagnosis of SARS-CoV-2 with PCR positivity, 87 (1.0%) patients were diagnosed with MIS-C. Among SARS-CoV-2 PCR-positive patients, 51.0% were male and 8.5% had chronic illnesses. The median age was 11.6 years (IQR: 5.0-15.4) and 737 (8.4%) patients were aged <1 year. Of the patients, 15.5% were asymptomatic. The most common symptoms were fever (48.5%) and cough (30.7%) for all age groups. There was a decrease in the rate of fever as age increased (p < 0.001); the most common age group for this symptom was <1 year with the rate of 69.6%. There was known contact with a SARS-CoV-2 PCR-positive individual in 67.3% of the cases, with household contacts in 71.3% of those cases. In terms of clinical severity, 83 (0.9%) patients were in the severe-critical group. There was hospital admission in 1269 (14.4%) cases, with 106 (1.2%) of those patients being admitted to the pediatric intensive care unit (PICU). Among patients with MIS-C, 60.9% were male and the median age was 6.4 years (IQR: 3.9-10.4). Twelve (13.7%) patients presented with shock. There was hospital admission in 89.7% of these cases, with 29.9% of the patients with MIS-C being admitted to the PICU., Conclusion: Most SARS-CoV-2 PCR-positive patients presented with a mild clinical course. Although rare, MIS-C emerges as a serious consequence with frequent PICU admission. Further understanding of the characteristics of COVID-19 disease could provide insights and guide the development of therapeutic strategies for target groups., Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Background: A significant number of children are injured by or die from firearm-related incidents every year, although there is a lack of global data on the number of children admitted to pediatric emergency departments (PEDs) and pediatric intensive care units (PICU) with firearm injuries. This study is the most comprehensive analysis of firearm injuries sustained by children in Turkey to date., Methods: This multicenter, retrospective, cohort study was conducted between 2010 and 2020 with the contributions of the PEDs, PICUs, intensive care units, and surgery departments of university hospitals and research hospitals., Results: A total of 508 children were admitted to hospital with firearm-related injuries in the research period, although the medical records of only 489 could be obtained. Of the total admissions to hospitals, 55.0% were identified as unintentional, 8.2% as homicide, 4.5% as self-harm, and 32.3% as undetermined. The Glasgow Coma Scale (GCS) and ventilation support were found to be the most significant predictors of mortality, while head/neck injury, length of stay (LOS) in the hospital and surgical interventions were found to be the most significant predictors of disability. The overall mortality of firearm-related injuries was 6.3%, and the mortality for children admitted to the PICU was 19.8%. The probability of disability was calculated as 96.0% for children hospitalized with firearm injuries for longer than 75 days., Conclusions: Head/neck injury, LOS in the hospital, and surgical interventions were found to be the most significant parameters for the prediction of disability. Hospitalization exceeding 6 days was found to be related to disability.

Background: Chest computed tomography (CT) appears to be an important radiological modality for the diagnosis of COVID-19 in adults. Studies comparing the findings of such children with those of other viral infections have not been reported either. The aim of this study was to present comparative imaging findings of 75 pediatric COVID-19 patients and four patients with other viral upper respiratory tract infections. We also aimed to demonstrate the possible association between the radiological and laboratory findings in the COVID group., Methods: From 11 March 2020 to 20 June 2020, 79 children (aged < 18 years) were enrolled. COVID-19 was detected by RT-PCR or antibody testing. A plain chest X-ray was obtained from all subjects. Non-contrast chest CT was performed for symptomatic patients., Results: Seventy-five patients had COVID-19 and 4 were infected with other pathogens i.e. adenovirus, rhinovirus, parainfluenza virus B, respiratory syncytial virus. The ages of the patients (36 M, 43 F) ranged from 7 months to 17 years old. The sensitivity of chest X-ray (as compared to RT-PCR) was 10.67% (95 CI%: 4.72 - 19.94%). From 23 chest CT`s five of them were normal and nine of them had only nodules ( < 5mm). The sensitivity of CT was 78.26% (95CI%: 54.30 - 92.54%), false-negative rate was 21.7%., Conclusions: The sensitivity of chest CT was found to be low and any significant correlations could have not been depicted, between the radiological parameters and the presence of lymphopenia. Clinical follow-up combined with corresponding pathogen detection, and chest CT of the symptomatic COVID-19 patients might be a feasible/prompt protocol in children.

Background: The most underdeveloped area in the care of critically-ill-children (CIC) is the prehospital period. Appropriate prehospital assessment and life-saving-interventions (LSI) of this population are challenging and require dedicated resources to ensure the best outcomes. We aimed to determine the characteristics and outcomes of CIC transported to the Turkish Pediatric Emergency Departments (EDs). The frequency and distribution of LSI administered by prehospital providers on route and in the EDs were also investigated., Methods: This prospective study was conducted at 4 metropolitan cities and 9 tertiary pediatric EDs between August 2014-August 2015. A survey based study evaluated all CIC who were brought by ambulance to the participant EDs. CIC were defined as a patient who requires LSI or needs intensive care admission for any reason. Patient demographics, clinical features, reason for transport, performed procedures in the ambulance or ED were sought. Finally, the short-term outcomes of transported CIC and transport-associated risks were analyzed., Results: During the study period, a total 2094 children were brought by ambulance to all participant EDs. Only 227 (10.8%) of them were critically-ill. Emergency Medical Services (EMS) providers were less likely to perform procedures in CIC if they were staffed with paramedics (p < 0.001). Most procedures were performed on children aged one or older (p < 0.001). No procedure was performed in the ambulance for nearly one fourth of patients who received LSI in the EDs. If the EMS did not have a physician, prehospital providers were less likely to provide immediate LSIs (p < 0.001). CIC were more likely referred from secondary/tertiary care hospitals. The short-term mortality rate was higher if the ambulance was staffed by only paramedics., Conclusion: This study demonstrated that Turkish prehospital pediatric emergency care is deficient. We offer a clinical overview of pediatric emergencies to aid EMS directors, policymakers, and ED directors in planning the care of CIC.

Background: High-flow nasal cannula (HFNC) is widely used as a feasible and tolerable respiratory support method. However, patients should be closely monitored, especially when used with moderate-severe respiratory distress indications. Because these patients can easily develop respiratory failure and escalated care may be required. The aim of this study is to determine the predictive factors in patients treated with HFNC who received escalated respiratory support for HFNC failure., Methods: A retrospective study of patients admitted with respiratory distress and treated with HFNC therapy between January 2014 and December 2018 was carried out. The variables evaluated were age, gender, vital signs before and two hours post HFNC therapy, underlying disease, use of steroid, salbutamol and antibiotic therapy, blood gase analysis and lactate values, hospitalization in pediatric intensive care unit, respiratory viral panel and need for escalation of respiratory support. HFNC failure was identified requiring noninvasive or invasive respiratory support despite HFNC therapy., Results: 243 patients receiving HFNC therapy were included in this study. The median age was 11 months [interquartile range(IQR) 5-27]. The diagnosis of 183 patients (75.3%) were acute bronchiolitis and 60 patients (24.7%) were pneumonia. Of 243 patients, 29 (%11.9) received escalated care. 22 invasive and 7 non-invasive respiratory supports were provided. The lower pH on admission was found in the non-responder group. Moreover, heart rate and respiratory rate did not decrease two hours after HFNC therapy., Conclusions: The careful monitoring of patients receiving HFNC therapy is critical. Because these patients are at risk for needing escalated care. We found that low pH values on admission and high pulse rate and respiratory rate observed at the second hour of follow-up period could be predictive factors for HFNC failure.

Acute metabolic decompensation (AMD) of maple syrup urine disease (MSUD) must be promptly recognized and treated. In this study, we aimed to identify simple variables associated with AMD in children with MSUD for use in emergency settings. Data were collected retrospectively from 115 emergency visits of 29 children with MSUD over a 4-year period in a major referral hospital. Variables in visits with and without AMD were compared using t test, Mann-Whitney U test, and chi-square test. Logistic regression was used to identify independent variables associated with decompensations. Cut-off values of laboratory variables were determined with receiver operating characteristic curves and correlations with Spearman's rank correlation. Most important variables independently associated with AMD were poor feeding, malaise, anion gap, and especially uric acid, which correlated with leucine levels. Vomiting, dehydration, neurological signs, ketonuria, and ketoaciduria were also associated with AMD. Although sodium, chloride, and glucose were lower in AMD, they had little diagnostic value.Conclusion: In children with MSUD, uric acid and anion gap are key markers for AMD. Poor feeding and malaise are clues before the onset of neurological symptoms. These simple parameters can help determine the presence of AMD in emergency settings.What is Known:• In maple syrup urine disease, acute metabolic decompensations are characterized by gastrointestinal and neurological findings.• Diagnosis requires detection of significantly elevated leucine, which may take a long time or not be available.What is New:• Poor feeding, malaise, hyperuricemia, and high anion gap are parameters that can help diagnose acute decompensations in children with maple syrup urine disease at emergency departments.• Uric acid may be a biomarker for acute decompensations because of its high sensitivity, specificity, and its strong correlation with leucine.

Hanalioğlu D, Özsürekci Y, Büyükçam A, Gültekingil-Keser A, Tekşam Ö, Ceyhan M. Acute peripheral facial paralysis following varicella infection: An uncommon complication. Turk J Pediatr 2018; 60: 99-101. Chickenpox is caused by varicella zoster virus (VZV/HHV-3), which is one of the eight human herpes viruses. Although chickenpox has a good prognosis, neurologic complications including encephalitis, acute cerebellar ataxia, myelitis and meningitis may seldom be associated with the disease. Peripheral facial palsy (PFP) is an extremely rare complication in patients with chickenpox. Herein, we report a 12-year-old boy with chickenpox and unilateral peripheral facial palsy, who was successfully treated with short-term steroids and physical rehabilitation.

Kurt F, Kendirli T, Gündüz RC, Kesici S, Akça H, Şahin Ş, Kalkan G, Derbent M, Tuygun N, Ödek Ç, Gültekin-Keser A, Oğuz S, Polat E, Derinöz O, Tekin D, Tekşam Ö, Bayrakcı B, Suskan E. Outcome of out-of-hospital cardiopulmonary arrest in children: A multicenter cohort study. Turk J Pediatr 2018; 60: 488-496. The aim of this study was to evaluate the demographic characteristics of children who experienced out-of-hospital cardiopulmonary arrest (CPA), and to assess the impact of the bystander cardiopulmonary resuscitation (CPR) on the survival rate of witnessed arrests and the effects of the arrest and CPR durations on the neurological outcomes. This multicenter, retrospective study included a total of 182 patients who underwent CPR for out-of-hospital CPA between January 2008 and December 2012 at six centers in Ankara, Turkey. The median [interquartile range (IQR)] age was 22 (5-54) months; 60.4% of the patients were males, and 44% were younger than one year of age. The witnessed arrest rate was 75.8% (138/182) and the rate of bystander CPR was 13.9% (13/93). In these patients the rate of the return of spontaneous circulation (ROSC) was higher (76.9%). Following resuscitation in the patients for whom the spontaneous circulation was able to be returned, the median (IQR) duration of arrest was 5 (1- 15) min, while it was 15 (5-40) min for the remaining patients (p < 0.001). The ROSC rate was 94.9% in patients who underwent CPR for less than 20 min and 22% in patients requiring CPR longer than 20 min (p < 0.001). Survival to hospital discharge was 14.3%. Of these patients, 57.7% experienced neurological disability. The short duration of an arrest and the presence of CPR are both critical for survival. We suggest that a witness to the CPA, performing early and efficient CPR, yields better results.

Isıyel E, Tekşam Ö, Foto-Özdemir D, Özmert E, Tümer AR, Kale G. Home accident or physical abuse: Evaluation of younger children presenting with trauma, burn and poisoning in the Pediatric Emergency Department. Turk J Pediatr 2018; 60: 625-632. Most cases of physical abuse and neglect refer to pediatric emergency clinics, and these patients are diagnosed as only home accidents. Cases that cannot be diagnosed and managed correctly are again exposed to severe trauma and consequently, they may die. The aim of this study is to evaluate the physical abuse and neglect in children younger than three years of age, admitted to the pediatric emergency department with the complaints of trauma, burn, drug poisoning and/or caustic ingestion. This prospective study included 132 patients who were admitted to the pediatric emergency department. Children were classified into three groups as `no abuse`, `suspected abuse` and `abused` after being evaluated with a standard form. Additionally, suspected abuse and abused cases were evaluated once again by `The Team of Child Abuse and Neglect Evaluation, Research and Treatment` in Hacettepe University, İhsan Doğramacı Children's Hospital. The frequency of the suspected abuse or abused cases in all burn, trauma and poisoning cases was found to be 7.5%. It was noticed that 65 of the patients (49.2%) were physically neglected considering the mechanism of occurrence of events. Unplanned pregnancy, absence of prenatal follow-up, high number of siblings, previous physical abuse in the family, absence of witness during the event, and hospitalization were statistically significant differences between no abuse and suspected abuse or abused cases (p < 0.05). Moreover, age group and income were significant risk factors in the logistic regression model for the patients who were thought to be suspected abuse/abused in univariate analyses (age group: Odds ratio (OR) 0.279, 95% confidence interval (CI) 0.085-0.723, p=0.0049; income: OR 2.323, 95% CI 1.052-6.198, p=0.0345). In conclusion, most cases of physical abuse and neglect are referred to the pediatric emergency clinics, and these patients are misdiagnosed as home accidents. The physicians working in the emergency department should be informed and trained in recognizing the cases of abuse and neglect, making the differential diagnosis, identifying the high-risk families and appropriate physical and psychological treatment for the abused and neglected children.

Introduction: Systemic lupus erythematosus (SLE) is a multisystemic autoinflammatory disease that can involve any organ system; therefore, diagnosis can be challenging. Hereby, we present 4 cases that presented to pediatric emergency department with unusual clinical pictures of SLE., Cases: Case 1 presented with inability to walk or talk for the last 1 week as well as intermittent pain and swelling in her joints. Case 2 presented with generalized edema and severe dyspnea. Case 3 and 4 presented to pediatric emergency department with rashes on the legs., Discussion: Systemic lupus erythematosus may mimic many clinical entities, and differential diagnosis may be difficult, especially if presentation is atypical. In every emergency physician, right diagnosis and prompt treatment are very important especially in life-threatening conditions such as cardiac involvement in SLE.

Spirometry is an easy method to measure lung function and to show pathophysiology. It assists not only to determine the severity of bronchial obstruction in asthma but also to differentiate the characteristics of the intrathoracic diseases narrowing the central airways. Different types of benign and malignant tumors of the trachea may cause emergence of symptoms of airway obstruction. Herein a patient who had been initially diagnosed with asthma but later on shown to have intratracheal myofibroblastic tumor is presented. The importance of flow-volume curve in both initial diagnosis of the mass and in the detection of recurrence is discussed.

Gültekingil-Keser A, Tekşam Ö. Comparison of weight estimation methods and evaluation of usability of Broselow Luten tape in Turkish children. Turk J Pediatr 2017; 59: 150-154. It is controversial which method is more reliable for weight estimation of a child in an emergent situation. The aim of this study is to compare different methods and to review the applicability of Broselow Luten tape for Turkish children. This study was performed prospectively in patients presenting to pediatric emergency department. Weight estimation of patients were performed by parent, physician, nurse and Broselow Luten tape. Finally actual weight and height of the patient were measured. A total of 438 patients were eligible for the study. All estimates have a reliable correlation with actual weight. However, parent estimation is better followed by Broselow Luten tape. Correlation decreases as the weight of the child increases. When emergent care of an acutely ill child is necessary, parental estimation of the weight can be used. If it is unattainable, Broselow Luten tape can be reliably used instead of other methods especially in patients with lower weight.

Taştemel-Öztürk T, Bilginer-Gürbüz B, Tekşam Ö, Sivri S. A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis. Turk J Pediatr 2017; 59: 693-695. Fanconi-Bickel syndrome is a rare autosomal recessive disorder of carbohydrate metabolism, caused by mutations in the SLC2A2 gene, that codes for the glucose transporter protein 2 (GLUT2). The disease is characterized by proximal renal tubular dysfunction, impaired glucose and galactose utilization, and accumulation of glycogen in the liver and kidney. Signs and symptoms of Fanconi-Bickel syndrome begin in infancy and include failure to thrive, hepatomegaly, hypophosphatemic rickets, and short stature. Here in we report a Turkish Fanconi-Bickel syndrome case who also has situs inversus totalis and a novel mutation that has not been described before.

Cortical blindness related to bilateral occipital lobe infarction is an extremely rare complication of hydrocephalus. Compression of the posterior cerebral artery, secondary to tentorial herniation, is the cause of occipital infarction. Particularly in children and mentally ill patients, cortical blindness may be missed. Therefore, early diagnosis and treatment of hydrocephalus is important. We present herein a child of ventricular shunt malfunction complicated by cortical blindness.

Mercury has a number of unique and fascinating properties. It is present in the environment in several forms, both organic and inorganic. Each of these forms has somewhat unique properties that differentiate them from the other forms, but all are toxic to humans in one way or the others. Mercury has been proven to be a potential source of poisoning in children as a result of the inappropriate handling of a liquid mercury. The cases of metallic mercury vapor intoxication not associated with occupational exposure may occur in school science laboratories, from mercury dust and powders, from latex paint containing a mercury-based fungicide, and from normal wear or installation of dental amalgam fillings. Another source of toxic mercury exposure can be broken thermometers, barometers, or sphygmomanometers that may occur in the home, and children are often victims of environmental exposure. In this paper, we present three members of a family who were exposed to mercury brought home from school by a family member. Since the mercury exposure was not known, the initial presentation and clinical picture suggested a misdiagnosis, a contagious infectious disease, because the onset of symptoms occurred at different times in the same family members. A subsequent change to a diagnosis of mercury intoxication and chelation therapy with meso-2,3-dimercaptosuccinic acid was started.