Computed Tomography Overuse in Pediatric Minor Head Trauma: Insights from a Single-Center Experience.

BACKGROUND: Minor head trauma is a common reason for emergency department visits in children, but many of these cases are not clinically significant. Despite established criteria for selecting patients who require computed tomography (CT), concerns about overuse of CT persist. This study aimed to determine the frequency of clinically important traumatic brain injury by retrospectively evaluating cranial CT scans in children categorized as very low risk for such injuries based on PECARN prediction rules. MATERIALS AND METHODS: Cranial CT scans of 941 minor head trauma cases were assessed for the presence, type, and number of calvarial bone fractures. Concomitant bleeding and treatment approaches were also recorded. RESULTS: Among 881 patients (93.6%), cranial CT scans did not reveal any lesions apart from soft tissue edema. None of the cases had clinically important traumatic brain injury or required neurosurgical intervention. DISCUSSION AND CONCLUSION: The study demonstrated that 93.6% of cranial CT scans for pediatric minor head trauma were negative, indicating a concerningly high rate of CT overuse. Although prediction rules exist, their application in clinical practice is not always optimal. Given the principle of "first, do no harm," proper patient selection is crucial to avoid unnecessary exposure to ionizing radiation.

Comparison of axial and coronal axis MRI kidney volume measurement in pediatric congenital solitary kidney.

BACKGROUND: Accurate estimation of kidney size and volume in the solitary functioning kidney is crucial because of a higher risk of developing kidney injury. MRI is an accurate method and is suitable for kidney volume measurement. Usually, axial axis images and measurement methods are preferred for kidney volume measurements. However, the anteroposterior diameter of the kidney is smaller than the longitudinal diameter, meaning that imaging in the coronal axis could provide needed information in a shorter time, enabling imaging of younger patients without sedation. Therefore, the purpose of this study was to compare coronal and axial axis kidney volume measurement methods and evaluate intra-observer and inter-observer reliability. METHODS: Axial axis T2W and coronal axis FIESTA images of kidneys were obtained with 10 mm slice thickness and no slice gap in pediatric patients with congenital solitary kidneys. Free-hand manual tracing was used to calculate volumes in both methods. Images were analyzed by two operators with different levels of experience. The expert operator computed solitary kidney volume twice in both methods for the intra-observer reliability, while the beginner operator's measurements were used for the inter-observer reliability. RESULTS: High intra-observer (0.965 for axial and 0.972 for coronal) and inter-observer reliability were revealed (0.964 for axial and 0.963 for the coronal) for both measurement methods. CONCLUSION: The coronal plane volume measurement method, which has a significantly shorter examination and post-processing time, is a highly reproducible and reliable method that can enable volume measurement with MRI in younger children, as the imaging time will be shortened. A higher resolution version of the Graphical abstract is available as Supplementary information.

Cross or Not to Cross-Dilemma of the Pulmonary Arteries.

We aimed to assess the frequency of criss-cross pulmonary arteries and associated intracardiac and vascular anomalies in patients who underwent CT angiography due to suspected congenital heart disease or vascular anomaly at our hospital. We retrospectively evaluated the CT angiography images of 355 patients aged 0-18 years between April 2018 and December 2022. The presence of the criss-cross pulmonary artery anomaly was assessed. Additionally, in patients with a criss-cross pulmonary artery anomaly, accompanying branch pulmonary artery anomalies, aortic arch anomalies, and other vascular-cardiac anomalies were also evaluated. A total of 331 patients' images were evaluated. Criss-cross pulmonary artery anomaly was present in 57 patients (17.2%). Pulmonary artery branch anomaly was present in 16, aortic arch anomaly in 40 patients (70%) with criss-cross pulmonary artery anomaly, while associated intracardiac pathology (by echocardiography) was detected in 43 patients (75.4%). The frequency of criss-cross pulmonary artery was found to be significantly higher in patients with any aortic arch anomaly (p = 0.01). This study represents one of the largest series of patients with criss-cross pulmonary artery anomalies. Our results suggests that it may be more common than previously recognized and potentially overlooked. It is crucial to consider the presence of this anomaly in patients with complex aortic arch anomalies or cardiac pathologies, as it may have implications for surgical approaches and potential complications. Increased awareness of this anomaly among cardiologists and radiologists is necessary for accurate diagnosis and appropriate management.

A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.

Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure. One was homozygous for a novel GBA variant c.590 T > A (p.197 K), and the second homozygous for the known GBA mutation c.1505G > A (p.R502H). Ichthyosis, hydrops fetalis, apnea, myoclonic seizures, and hepatosplenomegaly occurred in both patients, but hypertrophic cardiomyopathy was observed only in the second and unilateral cataract in the first patient. Due to the disease's early and rapid neurological progression, we did not administer ERT to our patients. It is strongly believed that early diagnosis is essential, and prenatal diagnosis makes genetic counselling possible for future pregnancies.

Congenital biventricular cardiac diverticula as a part of class III Cantrell's syndrome: case report.

Congenital cardiac ventricular diverticulum is an extremely rare condition that usually occurs as a part of Pentalogy of Cantrell and frequently associated with sternal, pericardial, diaphragmatic, and thoracoabdominal wall defects. The prognosis of the patient depends on the complexity of abnormalities. Herein, we report biventricular diverticula as a part of incomplete Cantrell's syndrome in a 1-day-old newborn.

Cortical and subcortical structural changes in pediatric patients with infratentorial tumors.

PURPOSE: This study aimed to detect supratentorial cortical and subcortical morphological changes in pediatric patients with infratentorial tumors. METHODS: The study included 24 patients aged 4-18 years who were diagnosed with primary infratentorial tumors and 41 age- and gender-matched healthy controls. Synthetic magnetization-prepared rapid gradient echo images of brain magnetic resonance imaging were generated using deep learning algorithms applied to T2-axial images. The cortical thickness, surface area, volume, and local gyrification index (LGI), as well as subcortical gray matter volumes, were automatically calculated. Surface-based morphometry parameters for the patient and control groups were compared using the general linear model, and volumes between subcortical structures were compared using the t-test and Mann-Whitney U test. RESULTS: In the patient group, cortical thinning was observed in the left supramarginal, and cortical thickening was observed in the left caudal middle frontal (CMF), left fusiform, left lateral orbitofrontal, left lingual gyrus, right CMF, right posterior cingulate, and right superior frontal (P < 0.050). The patient group showed a volume reduction in the pars triangularis, paracentral, precentral, and supramarginal gyri of the left hemisphere (P < 0.05). A decreased surface area was observed in the bilateral superior frontal and cingulate gyri (P < 0.05). The patient group exhibited a decreased LGI in the right precentral and superior temporal gyri, left supramarginal, and posterior cingulate gyri and showed an increased volume in the bilateral caudate nucleus and hippocampus, while a volume reduction was observed in the bilateral putamen, pallidum, and amygdala (P < 0.05). The ventricular volume and tumor volume showed a positive correlation with the cortical thickness in the bilateral CMF while demonstrating a negative correlation with areas exhibiting a decreased LGI (P < 0.05). CONCLUSION: Posterior fossa tumors lead to widespread morphological changes in cortical structures, with the most prominent pattern being hypogyria. CLINICAL SIGNIFICANCE: This study illuminates the neurological impacts of infratentorial tumors in children, providing a foundation for future therapeutic strategies aimed at mitigating these adverse cortical and subcortical changes and improving patient outcomes.

Autonomic Disturbances in Children with Nutcracker Syndrome: A Case Control Study.

OBJECTIVE: To describe the autonomic nervous system abnormalities including frequency of orthostatic symptoms, orthostatic response to the active standing test and impairment in heart rate variability (HRV) parameters in children with Nutcracker syndrome (NCS). METHODS: A case-control study was conducted between May and November 2023. We included children with NCS and healthy age- and sex-matched healthy controls. Children were evaluated for autonomic system disturbances by history for orthostatic symptoms, performance in an active standing test, 24-hour holter monitoring to determine the heart rate variability (HRV), maximum and minimum heart rates, and the average heart rate and urine analysis for orthostatic proteinuria and hematuria. RESULTS: 45 children with NCS and 47 age-matched healthy controls were included. Orthostatic symptoms were observed in 55.5% of the NCS patients, with dizziness being the predominant complaint (37%), followed by fatigue (20%), palpitations (13%), headache (11%), vision disturbances (11%), syncope (6%), chest discomfort (4%), and diaphoresis (2%). In the 24-h holter monitoring of 24 patients, a decrease in the standard deviation of the NN intervals (SDNN), root mean square of successive R-wave peak to R-wave peak (RR) interval differences (rMSSD) was observed. SDNN was significantly lower in NCS compared to the control group; 135.5 (42.3) vs 155.9 (35.2), P = 0.039. rMSDD was also significantly lower in the NCS compared to control group; 46.2 (19.7) vs 61.3 (26.6), P = 0.020. The mean (SD) maximum heart rate was higher in NCS compared to control group; 172.3 (28.4) vs 159.4 (14.6), P = 0.015. CONCLUSION: Autonomic nervous system dysfunction and orthostatic disturbances may be seen in children with NCS.

A Prospective Cross-Sectional Study on the Vitamin D Status of Neonates and the Impact of Neonates' Standard Vitamin D Supplementation on Neonatal Morbidities.

(1) Background: This study aimed to determine whether standard-dose vitamin D supplementation could provide adequate levels in exclusively breastfed infants born with different cord 25(OH)D levels and to evaluate related neonatal morbidities. (2) Methods: A prospective cross-sectional study was designed in term infants. Three groups were formed based on cord 25(OH)D levels; Group1 Deficiency:25(OH)D < 12 ng/mL, Group2 Insufficiency:25(OH)D = 12-19 ng/mL, and Group3 Optimum:25(OH)D = 20-100 ng/mL. Cord and 1st month 25(OH)D levels, after receiving standard-dose vitamin D prophylaxis, neonatal outcomes and anthropometric measurements were compared. (3) Results: The study involved 86 infants. Group1 Deficiency had also significantly lower 25(OH)D levels at 1st month compared to the others (p < 0.001). There was a significant positive correlation between cord and 1st month 25(OH)D levels (r = 0.78, p < 0.001). Despite the fact that the mother's age and clothing style were similar, Group1 Deficiency mothers had higher parity numbers and used less vitamin D during pregnancy (p = 0.03, p = 0.04). Neonatal outcomes analysis revealed that newborns in Group1 Deficiency experienced more respiratory distress, transient tachypnea, and early-onset sepsis, as well as more and longer hospital stays in the first-month of life (p < 0.05). (4) Conclusions: Infants with low cord 25(OH)D levels had also lower 25(OH)D values in the 1st month of life and experienced higher rates of neonatal morbidities. Given its numerous biological activities and impact on neonatal morbidities, determining an individualized dose of vitamin D supplementation may be more accurate than using the standard approach.

Phenylketonuria: A Scoring System for Brain Magnetic Resonance Imaging.

OBJECTIVE: The purpose of our study was to devise a new brain Magnetic Resonance Imaging (MRI) scoring system based on the Loes and modified Loes scores in phenylketonuria (PKU) patients. MATERIALS AND METHODS: The brain MRI scans of patients with late diagnosed PKU were evalu- ated retrospectively. Patients' age at diagnosis, age at which diet started, age at MRI, and, blood phenylalanine (Phe) levels at the time point closest to the MRI were recorded. RESULTS: Eleven patients aged from 3 to 28 years were included in the study. The median MRI involvement score was 17 (interquartile range = 3). The most involved white matter areas were the parietooccipital areas. There was a significant (P = .046) correlation between the blood Phe level at the timepoint closest to the imaging and the MRI involvement score. CONCLUSION: Our study provides insights into the MRI findings and scoring system in PKU patients. We have developed a scoring system based on the widely used Loes and modified Loes scoring systems that can be implemented in clinical practice. Also, our study contributes to the long-forgotten and largely abandoned area-imaging findings in late diagnosed and untreated PKU patients and set the stage for the future research in this field.

A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland.

BACKGROUND: While thyroid dysfunction develops in about 50% of untreated children with cystinosis, there is no data about how the sonography of thyroid tissue appears in this disease. Therefore, the purpose of this study was to assess the sonographic appearance, color doppler findings in this disease and to evaluate how cystine crystal accumulation affect tissue stiffness using shear wave elastography (SWE). METHODS: Sixteen children diagnosed with cystinosis and a control group consisting of 34 healthy children were included in this study. B mode ultrasound, color doppler imaging and real-time SWE of thyroid tissue were performed. RESULTS: Ultrasound imaging revealed lower echogenicity and diffuse heterogeneous echotexture in 7 of the 16 cystinosis patients. Thyroid gland volumes were lower in cystinosis patients (p 0.005). Doppler ultrasound demonstrated increased flow in 8 patients. On SWE, the thyroid tissue stiffness was established to be lower in patients compared to healthy children (p 0.003). CONCLUSIONS: This is the first study evaluating thyroid gland B mode, color doppler ultrasonography, and SWE findings in cystinosis. Our findings indicate that cysteamine treatment still cannot completely prevent the disease infiltration process of thyroid gland. The other important finding-that thyroid tissue stiffness was established to be lower than that of the controls-also demonstrates the ongoing disease infiltration process.

First Case of MELAS Syndrome Presenting with Local Brain Edema Requiring Decompressive Craniectomy.

Mitochondrial encephalomyopathy, lactic acidosis, and recurrent stroke-like episodes (MELAS) syndrome is a rare but one of the most common maternally inherited multisystem disorder. Although patients with MELAS present a variable clinical profile, strokelike lesions have been detected in 90% of cases, with stroke being the first presenting symptom in 25% of cases. However, cases of local brain edema requiring decompressive craniectomy has not been reported. A 12-year-old male patient was admitted to our pediatric intensive care unit with altered mental status, seizures, and vision loss. The patient was stuporous and presented neck stiffness. Complete blood count, serum electrolytes, biochemistry (including lactate level), acute phase reactants, and repeated blood gas analysis were unremarkable. Brain magnetic resonance imaging (MRI) revealed an edematous stroke-like lesion in the right occipital lobe accompanied by brain swelling. Intravenous ceftriaxone, acyclovir, intravenous immunoglobulin (IVIG), and pulse steroid therapy were started for possible diagnosis of viral/bacterial/autoimmune encephalitis; levetiracetam, phenytoin, and an infusion of sodium thiopental were started for refractory status epilepticus; and a 3% NaCl infusion was started for local brain edema. The results of serum autoimmune encephalitis panel were negative. Further investigations for rheumatic, vascular, and metabolic disorders were unremarkable. Despite these supportive treatments, the patient was clinically decompensated due to brain swelling that progressed to the left midline shift, and he underwent decompressive craniectomy. Histologic examination of brain biopsy specimen revealed non-specific encephalitis findings. A pathogenic variant of the MT-TL1 gene (m.3243A > T), responsible for MELAS, was detected. The patient?s condition dramatically improved after specific treatment for MELAS. If the diagnosis and treatment are delayed, MELAS syndrome can cause serious brain edema, which may ultimately require decompressive craniectomy.

Silent anatomic variations of the pediatric chest: They might not be congenital.

AIM: We aimed to evaluate the prevalence of silent anatomic variations of the chest wall, to estimate frequency in different age groups, and to answer are these variations more prominent with age? MATERIALS AND METHODS: Thorax CT scans of 592 children were retrospectively reviewed. 82 children who underwent CT for evaluation of the suspected chest wall deformities, chest wall lesions, prominent scoliosis, and who had chest wall surgery, thoracotomy, or trauma causing chest wall or clavicular fracture were excluded from the study. The frequency of silent anatomic variations was evaluated and compared with age subgroups and sex. RESULTS: 118 of 510 patients had variations of the chest wall (23.1%). The most common silent variation was the prominent convexity of the costal cartilage (n = 36, 30.5% of the variations). A significant difference existed in the frequency of variations between age subgroups (p < 0.001). CONCLUSION: A high rate of silent variations indicates that asymptomatic asymmetries of the chest wall are mostly benign and there is no need for further imaging. An increase in the frequency of the variations with age supports the hypothesis that these findings are mostly developmental instead of congenital and become more prominent with growth.