Objectives To characterize central lymphatic anatomy and physiological flow dynamics in healthy volunteers using dynamic contrast-enhanced MR lymphangiography (DCMRL), thereby providing preliminary DCMRL-specific quantitative characterization of central lymphatic anatomy and flow dynamics. Materials and Methods In this prospective single-center study, healthy adult volunteers underwent DCMRL between April 2023 and March 2024. Thoracic duct (TD) morphology, outlet anatomy, length, width, and tortuosity were assessed on contrast-enhanced T1-weighted imaging, with additional width measurements on T2-weighted imaging. Quantitative flow analysis was performed using time-resolved contrast-enhanced sequences. Descriptive statistics, paired and independent t-tests, and Spearman correlation coefficients were applied. Results Sixteen participants (6 male, 10 female; median age 27 years, range 19-44) were included. The thoracic duct (TD) was visualized in all on T2-weighted imaging and in 14 on contrast-enhanced T1-weighted imaging. The cisterna chyli was visible in 13, and the TD outlet was left-sided in 15, with bilateral outlets in one. Fourteen TDs were tubular, with partial duplication in 2. On contrast-enhanced T1-weighted imaging (n=14), mean TD width was 4.43 ± 0.76 mm. On T2-weighted imaging, the corresponding mean TD width was 4.13 ± 0.25 mm. The mean TD length was 232 ± 20 mm, with a tortuosity index of 1.04 ± 0.02. Quantitative flow analysis in 13 participants revealed a steady flow pattern with a mean flow rate of 0.63 ± 0.41 mL/min. Conclusion This prospective study characterizes central lymphatic anatomy and flow physiology in healthy volunteers using DCMRL, highlighting modest physiological variability and a gradual increase in lymphatic contrast propagation, providing preliminary interpretive context for DCMRL interpretation.

Disorders (or differences) of sex development (DSD) represent a broad spectrum of rare congenital conditions characterized by atypical development of chromosomal sex, gonadal differentiation, or internal and/or external genital anatomy. Although some individuals are identified in early life, a substantial proportion first present during adolescence, frequently with delayed or absent pubertal development, primary amenorrhea, virilization, or questions regarding gender identity or fertility. This sensitive developmental phase is accompanied by increasing autonomy, necessitating a patient-centered approach with transparent communication and shared decision-making. In this paper, we describe our structured, stepwise diagnostic pathway for adolescents presenting with suspected DSD, embedded within a specialized multidisciplinary team including pediatric endocrinology, laboratory medicine, clinical genetics, psychology, radiology, and surgical expertise. Advances in biochemical profiling, imaging techniques, and genetic testing have improved diagnostic accuracy; nonetheless, psychosocial guidance remains essential throughout the process to support understanding, coping, and long-term well-being. To contextualize this approach, we present an illustrative adolescent case highlighting key clinical considerations, communication strategies, and the specific roles of each team member. Through this case-based framework, we aim to provide clinicians with clear and clinically applicable guidance for the coordinated evaluation and management of adolescents with DSD, emphasizing individualized, developmentally appropriate and gender-affirming care.

The technique of intranodal contrast injection to visualize the lymphatic vessels, along with the use of dynamic contrast-enhanced MR lymphangiography, has led to important insights into the phenotype of patients with complex lymphatic anomalies. The pediatric patient with a complex lymphatic anomaly benefits from an integration of therapy across modalities, including supportive strategies (diet), localized therapy (drainage, embolization), and systemic therapy including targeted molecular therapy in mutation-driven complex lymphatic anomalies. A multidisciplinary collaboration, involving pediatricians, pharmacotherapeutic experts, pediatric radiologists, interventional radiologists, surgeons, geneticists, and nutritionists, is essential to tailor diagnosis to genotype and phenotype, personalize treatment, and monitor response.

KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies. Although skeletal anomalies are reported in about 75% of cases, their nature and extent in relation to growth are largely unknown. Therefore, this study aims to asses the prevalence of skeletal anomalies in KBG syndrome and explore whether there is a relationship with short stature. This retrospective cohort study includes patients with a confirmed diagnosis of KBG syndrome, with available radiographic images at the Radboud University Medical Center. The radiographs were re-evaluated by a radiologist focusing on the presence of spinal, costal, vertebral, and hand anomalies using standardized radiological criteria. In our cohort of 38 persons with KBG syndrome, 92% show skeletal anomalies on radiographic imaging. The most frequent observations on the radiographs were spinal anomalies (74%) and costal anomalies (40%). Specifically, lordosis (36%) had the highest prevalence. Patients with short stature (n = 14) showed higher prevalences of kyphosis and delayed skeletal age. In conclusion, this study demonstrates a high prevalence and broad variety of skeletal anomalies in individuals with KBG syndrome.

The use of standardised structured radiology reports improves the consistency, reproducibility and overall quality of radiological reporting while enhancing communication with referring physicians and ultimately contributing to improved patient care. To develop a standardised structured report template for foetal and neonatal postmortem magnetic resonance imaging through expert consensus. A Delphi survey was conducted between September and December 2025 among members of the ESPR Postmortem Task Force and other recommended international PM imaging experts. The surveyed items were derived from clinically used MRI reporting templates across the expert group. Consensus was defined using a ≥75

Central conducting lymphatic anomaly (CCLA) is a rare and potentially life-threatening vascular malformation characterized by impaired central lymphatic flow. Hydrops fetalis and congenital hydro-/chylothorax are common neonatal presentations; however, diagnosing CCLA poses challenges and requires advanced imaging. Management typically includes supportive therapies with limited effect, such as medium-chain triglyceride (MCT) diet, octreotide or propranolol, and thoracic drainage. Upcoming treatment options with mammalian target of rapamycin (mTOR) and mitogen-activated protein kinase (MEK) inhibitors have shown promising results in vascular anomalies driven by dysregulated PI3K/AKT/mTOR and RAS/RAF/MAPK signalling pathways. However, data on neonatal use remain scarce. This series describes infants (gestational age 29 + 3–40 + 4 weeks) with neonatal-onset CCLA treated with mTOR and/or MEK inhibitors (age IQR: 27–57 days), detailing clinical presentations, imaging, genetic findings, and outcomes. Genetic testing included germline and somatic variant analysis. Most patients underwent dynamic contrast-enhanced magnetic resonance lymphangiography (DCMRL) for diagnosis and to guide management. Pathogenic germline variants were identified in four patients; three had no genetic diagnosis. DCMRL revealed heterogeneous phenotypes; follow-up imaging showed improved lymphatic flow. Substantial clinical improvement occurred following mTOR and/or MEK inhibitor treatment (sirolimus and/or trametinib). In most cases, therapy was tapered within weeks; no relapses occurred (mean follow-up 10.3 months). No deaths or other severe adverse events occurred during inhibitor treatment. Conclusion: This series describes infants with CCLA, treated with mTOR and/or MEK inhibitors early after birth, with rapid improvement possibly reflecting treatment response leading to functional recovery during a critical developmental phase of the lymphatic system.

OBJECTIVES:To investigate whether adding an artificial intelligence-assisted hip ultrasound (CHC-US) to the selective screening for developmental dysplasia of the hip (DDH) at Child Health Care (CHC) centers can reduce the number of referrals for hip ultrasound without an increase of missed cases. METHODS:We conducted a cross-sectional diagnostic study at four CHC centers in the Netherlands between May 2022 and December 2022. All participating infants received both a CHC-US and a Hospital-US. The results of both ultrasounds (US) were analysed to evaluate the diagnostic performance of the CHC-US. Descriptive statistics, frequencies, and linear weighted Cohen's Kappa were used for statistical analysis. RESULTS:Data from 105 infants (210 hips) were included. In 59 infants (56.2 %) both hips were classified as not having DDH according to the CHC-US, of which two hips were diagnosed with DDH according to the Hospital-US. However, re-evaluation of the Hospital-US images showed no DDH in both cases. CONCLUSIONS:This study demonstrates that CHC-US in selective screening of DDH could reduce the number of hip US referrals by approximately half. CHC-US can be performed by a CHC physician, making integration of US into routine infant welfare visits at CHC-centers feasible.

OBJECTIVES:There is an ever-increasing demand for out-of-hours expert opinion in paediatric radiology, which cannot be delivered in all hospitals. This study was designed to ascertain whether paediatricians, paediatric surgeons and radiologists are satisfied with the current situation; and to investigate the extent to which diagnostic errors are made while on-call with either residents, general or paediatric radiologists reporting on paediatric examinations. METHODS:Two surveys were compiled and dispatched. The first, is to paediatricians, paediatric surgeons and paediatric radiologists questioning their satisfaction with the current on-call paediatric radiology services in their hospitals. The second, is to paediatric radiologists inviting them to retrospectively score the accuracy of the reporting on consecutive paediatric radiology examinations performed during on-call hours in their hospitals. RESULTS:The first survey revealed that 40/49 (82%) paediatric physicians were satisfied with the paediatric radiology service during office hours, decreasing to 33% during on-call hours. In the second survey, a total of 464 on-call paediatric radiology examinations were analysed, demonstrating 20.2% misdiagnoses. General radiologists had more misdiagnoses and were slower in providing a report than residents. CONCLUSION:The current service with a lack of on-call paediatric radiologists, is associated with increased misdiagnoses and dissatisfaction among physicians and requires improvement. CRITICAL RELEVANCE STATEMENT:This study shows that it may be a struggle to organise the 24-h availability of an expert paediatric radiologist, yet this might avoid 20% of misdiagnoses, half of which have direct clinical consequences. KEY POINTS:The current organisation of paediatric radiology on-call rotas is unsatisfactory for many clinicians. A substantial amount of on-call paediatric radiology reports contain misdiagnoses, and these may have significant clinical consequences. Hospitals should reconfigure out-of-hours paediatric radiology covers.

The apparent diffusion coefficient (ADC) derived from diffusion-weighted imaging (DWI) is a potential biomarker for treatment response in pediatric rhabdomyosarcoma. Due to its rarity, investigations into this marker require multicenter approaches, which can result in variability in acquisition parameters. To evaluate the impact of different acquisition parameters on ADC estimates in a multicenter dataset of rhabdomyosarcoma patients. We included 114 pediatric and adolescent rhabdomyosarcoma patients from 22 treatment centers (195 scans). Median age: 6.0 years (0.3–21.8). We evaluated the impact of voxel size, (number of) b-values, and echo time on tumor ADC values. The effect of the highest b-value was separately investigated on a subset of scans with five or more b-values. We observed a large variability in key acquisition parameters in the overall cohort, and for individual imaging centers. No parameter showed a significant effect on ADC estimates of the whole cohort when corrected for multiple-comparisons. Decreasing the highest b-value within the same acquisition caused ADC to decrease on average by 2.8

Developmental hip dysplasia (DDH) affects 1 %–4 % of infants globally, and ultrasound is the standard method to diagnose using Graf's method. However, ultrasound is not commonly used in primary care tool due to the required extensive training. Instead, physicians rely on physical examinations and risk stratification, resulting in a significant number of infants without DDH being referred. This study aimed to investigate if a novice user could be trained within 1 h to use an AI-assisted handheld ultrasound device to diagnose DDH.The novice user conducted hip ultrasounds on 31 infants at the Radboud UMC. Trained radiologists performed ultrasounds on the same infants, serving as the ground truth. The ultrasound acquisitions by the novice user were evaluated by a pediatric radiologist to determine if they adhered to the standard plane of Graf. When deemed sufficient, the pediatric radiologist assessed if DDH could be excluded, and subsequently, it was compared to the ground truth diagnosis.The ground truth identified 28 infants as no DDH, of which 23 (82 %) had AI-assisted ultrasounds in line with the standard plane of Graf, so DDH could be excluded. Additionally, all three infants with DDH (100 %) were correctly identified by the AI-assisted ultrasounds as ‘not excluding DDH’. This study demonstrates that it is possible for a novice user to acquire ultrasound images that satisfy the Graf criteria in 82 % of infants with 1 h of training. Such an approach could reduce the barrier of introducing ultrasound in the first-line of care and decrease the number of referred infants without DDH.

Recent diagnostic advances reveal that lymphatic disease in Noonan syndrome (NS) and other NS-like RASopathies often stems from central conducting lymphatic anomalies (CCLAs). The RAS/MAPK-ERK pathway plays a central role in lymphangiogenesis. Targeting this pathway with MEK-inhibitor trametinib has emerged as a promising therapeutic strategy for managing CCLAs in patients with NS-like RASopathies. This case series assessed the clinical outcomes of trametinib therapy in eight patients with NS-like RASopathies and CCLA, each offering unique insights into the therapeutic efficacy of MEK inhibition. In infants, a lower dose of 0.01 mg/kg/day and earlier discontinuation of trametinib therapy effectively alleviated the symptoms of congenital chylothorax and rescued the lymphatic phenotype, compared to similar published cases. Moreover, four patients aged >11 y showed a slower response and did not achieve complete symptomatic recovery. In conclusion, it is advised to consider trametinib therapy for patients with severe, therapy-refractory CCLA in patients with NS-like RASopathies. However, individual responses to trametinib therapy may vary, with some patients demonstrating more favorable outcomes than others. Further investigation into potential enhancers and suppressors of the lymphatic phenotype is necessary for more accurate treatment predictions. While these factors are likely genetic, we cannot rule out other intrinsic or physiological factors.

Fetal hydrops as detected by prenatal ultrasound usually carries a poor prognosis depending on the underlying aetiology. We describe the prenatal and postnatal clinical course of two unrelated female probands in whom de novo heterozygous missense variants in the planar cell polarity gene CELSR1 were detected using exome sequencing. Using several in vitro assays, we show that the CELSR1 p.(Cys1318Tyr) variant disrupted the subcellular localisation, affected cell-cell junction, impaired planar cell polarity signalling and lowered proliferation rate. These observations suggest that deleterious rare CELSR1 variants could be a possible cause of fetal hydrops.

Current diagnostics in Hirschsprung’s disease are often challenging and invasive. This study aims to investigate whether surface electroenterography can non-invasively discern healthy subjects from subjects suffering from Hirschsprung’s disease. Nine healthy subjects (seven children, two adults) and eleven subjects suffering from surgically untreated Hirschsprung’s disease (nine children, two adults) underwent an electroenterography procedure. This procedure consisted of ultrasound-guided placement of surface electrodes on the abdomen covering all parts of the colon, fasting and two 20-min electroenterography measurements separated by a meal. The dominant frequency, magnitude and relative increase (pre- to postprandial) of colonic activity were compared between both groups. The results showed that in the pediatric group, no significant differences in dominant frequency, colonic activity and relative power increase were observed between controls and patients. The adult patients showed decreased colonic motility and relative power increase in the electrodes closest to the distal colon, both when compared to the same electrodes in controls and to the more proximal electrodes of themselves. To conclude, electroenterography measurements in young children is challenging, but the results in adults demonstrate that these measurements can possibly distinguish between controls and Hirschsprung’s patients. Therefore, optimization of electroenterography measurements in young children is necessary.

Abstract Purpose During resuscitation in emergency situations, establishing intravascular access is crucial for promptly initiating delivery of fluids, blood, blood products, and medications. In cases of emergency, when intravenous (IV) access proves unsuccessful, intraosseous (IO) access serves as a viable alternative. However, there is a notable lack of information concerning the frequency and efficacy of IO access in acute care settings. This study aims to assess the efficacy of intraosseous (IO) access in acute care settings, especially focusing on children in a level 1 trauma center. Methods This retrospective study included patients with IO access presented in a level 1 trauma center emergency department (ED) between January 2015 and April 2020. Data regarding medication and fluid infusion was documented, and the clinical success rate was calculated. Results Of the 109,548 patients that were admitted to the ED, 25,686 IV lines were inserted. Documentation of 188 patients of which 73 (38.8%) children was complete and used for analysis. In these 188 patients, a total of 232 IO accesses were placed. Overall, 182 patients had a functional IO access (204 needles) (88%). In children (age < 18 years) success rate was lower as compared to adults, 71–84% as compared to 94%. However, univariate regression showed no association between the percentage of functional IO access and gender, age, weight, health care location (prehospital and in hospital), anatomical position (tibia as compared to humerus) or type of injury. Conclusion Intraosseous access demonstrates a high success rate for infusion, independent of gender, age, weight, anatomical positioning, or healthcare setting, with minimal complication rates. Caution is especially warranted for children under the age of six months, since success rate was lower.

Vascular anomalies develop during fetal life and can be detected on prenatal ultrasonography and fetal magnetic resonance imaging. Diagnosis of lymphatic, venous, and arteriovenous malformations, as well as congenital hemangiomas and other congenital vascular tumors, may be challenging. The benign vascular anomalies may be difficult to differentiate from malignancies with a similar appearance. In this manuscript, we present a succinct overview of the congenital vascular anomalies that may present in fetal or neonatal life.

Diaphragmatic hernia in children is uncommon, especially when not congenital. We present a case of an 11-year old boy with a diaphragmatic hernia caused by a rib osteochondroma. The osteochondroma was surgically removed and the laceration in the diaphragm was repaired. This case shows the importance of being familiar with acquired diaphragmatic hernia in children, to recognize and prevent possible complications in an early stage.

Congenital vascular malformations (CVMs) are the result of an aberrant development during embryogenesis. Although these lesions are present at birth, they are not always visible yet. Once symptomatic, patients suffer from pain, bleeding, ulcers, infections or lymphatic leakage, depending on the subtype of vessels involved. Treatment includes conservative management, surgery, sclerotherapy, embolization and pharmacological therapy. The clinical presentation varies widely and treatment can be challenging due to the rarity of the disease and potential difficulties of treatment. This review gives an overview of the historical developments in diagnosis and classification and exposes the key elements of innovations in the past decades on the identification of genetic mutations and personalized treatment. These advances in the field and a multidisciplinary approach are highly valuable in the optimization of clinical care aimed at both curing or stabilizing the CVM and pursuing physical and psychosocial wellbeing.

Surface electroenterography is a potential non-invasive alternative to current diagnostics of colonic motility disorders. However, electrode positioning in electroenterography is often based on general anatomy and may lack generalizability. Furthermore, the repeatability of electroenterography measurements is unknown. This study aimed to evaluate ultrasound-guided electrode positioning for electroenterography measurements and to determine the repeatability of those measurements. In ten healthy adults, two electroenterography procedures were performed, consisting of fasting, ultrasound-guided electrode localization and two 20-minute electroenterography recordings separated by a meal. The dominant frequency, the mean power density (magnitude of colonic motility) and the power percent difference (relative pre- to postprandial increase in magnitude) were determined. Repeatability was determined by Lin’s concordance correlation coefficient. The results demonstrated that the dominant frequency did not differ between pre- and postprandial recordings and was 3 cpm, characteristic of colonic motility. The mean power density increased between the pre- and postprandial measurements, with an average difference of over 200%. The repeatability of both the dominant frequency and power density was poor to moderate, whereas the correlation coefficient of the power percent difference was poor. Concluding, ultrasound-guided surface electroenterography seems able to measure the gastrocolic reflex, but the dissatisfactory repeatability necessitates optimization of the measurement protocol.

Key Clinical MessageWe describe a premature hydropic infant with Noonan syndrome and a therapy refractory chylothorax. This was shown to be due to a central conducting lymphatic anomaly. After therapy with a MEK‐inhibitor the infant recovered clinically and radiologically completely, possibly by restoring lymphatic valve function.