Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.

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.

After the Türkiye Earthquake: The Experience of a Pediatric Emergency Department in a University Hospital Distant from the Disaster Area.

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.

Lung ultrasound findings in children with foreign body aspiration.

OBJECTIVES: Foreign body aspiration (FBA) has a wide clinical spectrum, patients may be asymptomatic or present with cardiopulmonary arrest. Radiological imaging methods are used in addition to history and physical examination findings for certain diagnosis. Lung ultrasonography (LUS), whose usage area is increasing year by year, can be included in these. This study aimed to investigate ultrasonography findings in FBA and hypothesized that LUS may have a standard place in FBA diagnosis. METHODS: Patients who administered to the pediatric emergency department between August 2019-August 2021, considered according to the clinical findings and physical examination possible FBA, and who undergone rigid bronchoscopy by pediatric surgery were included in the study. RESULTS: Thirty-two patients were included in the study. According to the results of bronchoscopy, FBA was detected in 25 patients. The most common finding in radiography was hyperinflation on one side, while LUS findings were confluent-B lines in eight patients, barcode-sign in five patients, pleural line abnormalities in two patients, and pleural consolidation in two patients. CONCLUSION: This study is the first study aiming to evaluate LUS findings in FBA to the best of our knowledge. The B-lines, barcode sign, pleural line abnormalities and consolidation are seen findings in LUS of the patients with FBA. Although it is far from replacing chest radiography in these patients, it is possible to say that it has an equivalent value with chest radiography.

Clinical characteristics of firearm-related injuries in children in Turkey.

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.

Chest imaging for COVID-19: a single-center comparative results in pediatric patients.

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.

Final diagnosis of children and adolescents with musculoskeletal complaints.

BACKGROUND: Musculoskeletal complaints (MSCs) are one of the leading causes of outpatient admissions. However, analytical and epidemiological data are limited. The aim of this study is to identify the etiology of MSCs (excluding acute traumatic conditions) in children and adolescents, and to identify clues for the differential diagnosis. METHODS: Children and adolescents presenting with musculoskeletal pain, swelling or limitation of movement were enrolled in a prospective design. Demographic, clinical and laboratory features were recorded. RESULTS: Four hundred and twenty-two children (48.2% female) with a mean age of 7.90±3.95 years were enrolled. Etiology was identified in 97.2% of the cases: non-inflammatory and mechanical conditions (NIMC; 42.2%), rheumatic diseases (RD; 31%), infection-related disorders (IRD; 21.6%) and malignancy (M; 2.4%). NIMC was characterized by longer duration of complaints, a higher rate of non-articular complaints, a lower rate of joint involvement and limping and lower levels of leukocytes, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). The prevalence of RD was higher in the age group of >12 years; younger age was associated with higher prevalence of IRD. Small-joint involvement was highest in the RD group. Median ESR in RD and M groups was higher; compared to the other groups; the frequency of patients with ESR ≥ 60 mm/hr was higher in the M group; compared to the RD group. In the RD group familial Mediterranean fever (9.7%), juvenile idiopathic arthritis (8.3%) and Henoch-Schönlein purpura (5.7%) were the leading causes of MSCs. CONCLUSIONS: RD accounted for one-third of the etiologies for MSCs. Age, duration of complaints, pattern of joint involvement and acute phase reactants are practical tools that may guide the pediatrician for diagnosis.

Flow-volume curve in the diagnosis and follow-up of intrathoracic airway obstruction.

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.

Congenital Mirror Movements in Gorlin Syndrome: A Case Report With DTI and Functional MRI Features.

Congenital mirror movements are rare conditions that define the inability to perform unimanual movements. Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with multiple nevi predisposing to basal cell carcinoma, odontogenic keratocysts, and skeletal malformations. Herein we report on an adolescent patient with Gorlin syndrome and coexisting congenital mirror movements. To our knowledge, this is the first patient in the literature who has both of these very rare conditions.

Acute Abducens Nerve Paralysis in the Pediatric Emergency Department: Analysis of 14 Patients.

OBJECTIVES: Sixth cranial nerve (SCN) palsy is an uncommon but important neurological problem in patients admitted to pediatric emergency department. The underlying etiology of SCN palsy has a wide range from viral infections to intracranial tumors; therefore, a careful and systematic approach is necessary while examining these patients. METHODS: Fourteen patients who presented with acute SCN paralysis to pediatric emergency department during the last 10 years were examined. RESULTS: The age at the time of admission ranged between 14 months and 16 years (median, 9.5 years). Of the 14 patients, 5 were girls and 9 were boys. A total of 3 of the 14 patients had bilateral cranial nerve VI paralysis, and 9 patients had additional abnormal findings on neurological examination. Neuroimaging studies included cranial tomography (n = 3) and brain magnetic resonance imaging in all patients. The underlying etiology was malignancy (n = 3); glioma, medulloblastoma, acute lymphoblastic leukemia, and dural sinus thrombosis (n = 2); as well as Guillain-Barre syndrome (n = 2), multiple sclerosis (n = 1), pseudotumor cerebri (n = 1), and meningitis (n = 1). The remaining 4 patients had miscellaneous benign etiologies. CONCLUSIONS: Other lesions of primary brain tumors causing increased intracranial pressure constitute 50% of the underlying etiology, followed by Guillain-Barre syndrome (14.2%). However, these patients had neurological symptoms signs, in addition to diplopia or SCN paralysis. Patients admitted to pediatric emergency department with acute SCN paralysis should be examined in detail to disclose the underlying etiology especially if they present with additional clinical signs or symptoms.

Hydrops fetalis associated with chorioangioma and thrombosis of umbilical vein.

Placental chorioangioma and thrombosis of an umbilical vein varix are rare etiologic factors of non-immune hydrops fetalis. Herein, we report a patient who had hydrops fetalis associated with placental chorioangioma and thrombosis of an umbilical vein varix. This is the first report of coexistence of non-immune hydrops fetalis with placental chorioangioma and thrombosis of an umbilical vein varix.

Physicians' attitudes and perception of pediatric trauma cost.

Pediatric trauma is the leading cause of mortality and morbidity in children. A questionnaire was applied to evaluate physicians' attitudes and perception of pediatric trauma cost. Physicians working in the field of pediatric trauma (namely those who work in emergency services, pediatrics and pediatric surgery departments; who are consulted regarding pediatric traumas; and those for whom pediatric trauma patients constitute the majority of their patient spectrum) were enrolled in the survey. A questionnaire was administered to elicit the demographic data, features of pediatric trauma in their practice, self-perception of pediatric trauma knowledge, estimation of trauma severity, parameters used for pediatric trauma diagnosis, and perception of pediatric trauma score (PTS) and trauma cost. A total of 103 physicians responded to the questionnaire (median age: 30.8 +/- 5.6 years; range: 24-56). Of the 103 respondents, 49 were males (47.6%) and 54 were females (52.4%). Physicians responding to the questionnaire were specialists in Pediatrics (32.9%), Pediatric Surgeons (5.9%), Emergency Medicine Specialists (2.9%), and residents (47.6%) in those three disciplines in University Hospitals, Public Hospitals and Research Hospitals. Physicians reported falls (58.1%) as the most common cause of trauma, and noted head injuries with an incidence of 49.9% in their trauma practice. Physicians' self-perception of their pediatric trauma knowledge was questioned in three categories as: overall, diagnosis and treatment of trauma. They reported that their knowledge of pediatric trauma overall and regarding diagnosis and treatment was "efficient" at rates of 87.4%, 83.6% and 74.8%, respectively. However, while 76.7% of physicians perform radiological evaluations in all trauma patients, only 56.3% of them use laboratory tests routinely in diagnosis. Participants reported that cost of trauma was mostly affected by severity of trauma (49.5%) and least affected by the patient's sex (64.1%). They also believed that radiologic evaluations (66%) accounted for the largest portion of trauma cost and the cost of consultations (44.7%) for the smallest portion. In conclusion, we suggest that although most physicians were aware of cost factor in trauma, they did not consider trauma costs in diagnosis and management.

Vascular endothelial growth factor levels in newborns with meconium stained amniotic fluid.

OBJECTIVE: The effects of meconium-stained amniotic fluid (MSAF) on cord blood vascular endothelial growth factor (VEGF) levels have not been explored. The aim of this study was to verify whether MSAF influences cord blood VEGF levels in healthy term neonates and we can use cord blood VEGF levels in infants with MSAF as an indicator of fetal distress. METHODS: Using an enzyme-linked immunosorbent assay double sandwich method, plasma VEGF levels were determined in 18 healthy term neonates with MSAF and in 16 healthy term neonates without MSAF. RESULTS: VEGF plasma levels were not significantly different between healthy term neonates with or without MSAF. CONCLUSION: Intrauterine meconium passage could not affect VEGF levels on cord blood in term newborn infants and VEGF level may not be used as an indicator of fetal distress in infants with MSAF.

The triad of nesidioblastosis, congenital neuroblastoma and glomerulocystic disease of the newborn: a case report.

Neuroblastoma is the most common malignant tumor of the newborn, comprising 20% of all malignancies encountered during the neonatal period. We herein report a newborn who was born after 29 weeks' gestation and died unexpectedly at the 12th hour of life with no response to vigorous cardiopulmonary resuscitation. Autopsy findings revealed a right pararenal mass; microscopic examination showed neuroblastoma. Although the pancreas was grossly normal, its microscopic sections revealed a reduced number of islets of Langerhans and dispersion of the islet cells throughout the exocrine cells of the pancreas, and immunocytochemistry for the pancreatic hormones confirmed the dispersion of the islet cells. Final pathologic interpretation thus concluded the presence of nesidioblastosis. Furthermore, microscopic examination of the kidney showed glomerulocystic disease. Although the association of congenital neuroblastoma and nesidioblastosis has recently been defined as a new complex, neurocristopathy, the triad of congenital neuroblastoma, nesidioblastosis and glomerulocystic disease of the newborn has not been reported previously. To our knowledge, our case is the first reported newborn presenting with this triad. In conclusion, the association of nesidioblastosis and/or renal glomerulocystic disease should be kept in mind when encountering a case of congenital neuroblastoma. However, whether the presence of glomerulocystic disease in association with those other neurocristopathic pathologies is a coincidental finding or shares a common pathophysiological mechanism remains to be determined.

Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage.

Molybdenum cofactor deficiency leads to combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzyme activities. The major clinic symptom is intractable seizures seen soon after birth. No definite therapy is available. We report here a newborn with molybdenum cofactor deficiency-associated Dandy-Walker malformation who presented with severe lactic acidosis and intracranial hemorrhage.