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Cystic fibrosis liver disease (CFLD) begins early in life. Symptoms may be vague, mild, or nonexistent. Progressive liver injury may be associated with decrements in patient health before liver disease is clinically apparent. We examined Health-Related Quality of Life (HRQOL) in children enrolled in a multi-center study of CFLD to determine the impact of early CFLD on general and disease-specific QOL.Ultrasound (US) patterns of normal (NL), heterogeneous (HTG), homogeneous (HMG), or nodular (NOD) were assigned in a prospective manner to predict those at risk for advanced CFLD. Parents were informed of results. We assessed parent/child-reported (age ≥5 years) HRQOL by PedsQL 4.0 Generic Core and CF Questionnaire-revised (CFQ-R) prior to US and annually. HRQOL scores were compared by US pattern at baseline (prior to US), between baseline and 1 year and at 5 years. Multivariate analysis of variance (MANOVA) with Hotelling-Lawley trace tested for differences among US groups.Prior to US, among 515 participants and their parents there was no evidence that HTG or NOD US was associated with reduced PedsQL/CFQ-R at baseline. Parents of NOD reported no change in PedsQL/CFQ-R over the next year. Child-report PedsQL/CFQ-R (95 NL, 20 NOD) showed improvement between baseline and year 5 for many scales, including Physical Function. Parents of HMG children reported improved CFQ-R scores related to weight.Early undiagnosed or pre-symptomatic liver disease had no impact on generic or disease-specific HRQoL, and HRQoL was remarkably stable in children with CF regardless of liver involvement.

US is the imaging modality of choice for evaluation of a variety of abdominal conditions, and in recent years it has also become useful and promising as a bedside technique for assessment of acute abdominal conditions in neonates. Bedside US can help, complement, and sometimes replace radiographic or contrast-enhanced studies in critically ill and labile neonates who are difficult to transport to the fluoroscopy suite. Some of the features of bedside US can be applied as point-of-care US (POCUS) of the sick neonate. Some of the abdominal conditions in neonates that can be assessed and monitored with bedside US are necrotizing enterocolitis and its complications, malrotation with a midgut volvulus, segmental volvulus, meconium peritonitis, and complicated inguinal hernia. High-resolution US with the use of 15-MHz and higher-frequency probes allows characterization of the bowel anatomy and features of intestinal abnormalities in neonates in fine detail. Color Doppler US and microvascular imaging improve accuracy in the detection and characterization of bowel vascularity, which is important in the treatment and follow-up of patients with intestinal conditions.

The omphalomesenteric duct is an embryologic structure that connects the yolk sac with the primitive midgut of the developing fetus. Omphalomesenteric duct anomalies include a group of entities that result from failed resorption of the omphalomesenteric duct. These anomalies include Meckel diverticulum, omphalomesenteric fistula, fibrous bands, cysts, and umbilical polyps. Meckel diverticulum is the most common congenital anomaly of the gastrointestinal tract and is usually asymptomatic. Symptoms develop when Meckel diverticulum involves complications such as hemorrhage, inflammation, and perforation, or when it causes intussusception or bowel obstruction. Hemorrhage is the most common complication of Meckel diverticulum, and technetium 99m-pertechnetate scintigraphy is the imaging modality of choice for detecting acute bleeding. US and CT are commonly used for the evaluation of patients with other complications such as obstruction and inflammation. Nevertheless, the diagnosis of these complications can be challenging, as their clinical manifestations are usually nonspecific and can masquerade as other acute intraabdominal entities such as appendicitis, inflammatory bowel disease, or other causes of bowel obstruction. There are other umbilical disorders, such as urachal remnants and umbilical granuloma, that may present with symptoms and imaging findings similar to those of omphalomesenteric duct anomalies. An accurate preoperative diagnosis of omphalomesenteric duct anomaly is crucial for appropriate management and a better outcome, particularly when these anomalies manifest as a life-threatening condition. The authors review the anatomy, clinical features, and complications of omphalomesenteric duct anomalies in children, describing the relevant differential diagnoses and associated imaging findings seen with different imaging modalities. ©RSNA, 2021.

Pediatric soft tissue tumors of the extremity include rhabdomyosarcoma and nonrhabdomyosarcoma neoplasms. This manuscript provides consensus-based imaging recommendations for imaging evaluation at diagnosis, during treatment, and following completion of therapy for patients with a soft tissue tumor of the extremity.

Study Objective To evaluate the diagnostic performance of a Volume and Solid Vascular Tissue Score (VSVTS) for preoperative risk assessment of pediatric and adolescent adnexal masses. Design A retrospective cohort study comprised of all female individuals who presented with an adnexal mass that was managed surgically between April 2011 and March 2016. Setting The Hospital for Sick Children (Toronto, Ontario, Canada). Participants Female individuals 1–18 years of age who presented to a large tertiary pediatric hospital with an adnexal mass that was managed surgically. Main Outcome Measures Main outcome measures included diagnostic performance of the VSVTS for malignancy via sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), positive likelihood ratio (LR+), negative likelihood ratio (LR−), and receiver operating characteristic area-under-the-curve (AUC) analysis. Results A total of 179 masses in 169 subjects were included. The malignancy rate was 10.6%. The AUC for the VSTVS was 0.919. A VSTVS cut-off value of 4 achieved a sensitivity of 79% (95% CI 0.54-0.93), specificity of 88% (95% CI 0.82-0.93), PPV of 0.44 (95% CI 0.33-0.56), NPV of 0.97 (95% CI 0.94-0.99), LR+ of 6.77 (95% CI 4.18-10.97), and LR− of 0.24 (95% CI 0.10-0.57). Conclusions A sonographic scoring system based on the volume and presence of solid vascular tissue improves PPV for preoperative risk stratification of adnexal masses in the pediatric and adolescent population compared to existing ultrasound-only approaches. Further prospective research is needed to determine how best to incorporate components of such scoring systems into clinical management algorithms.

Methods to identify children with cystic fibrosis (CF) at risk for development of advanced liver disease are lacking. We aim to determine the association between liver stiffness measurement (LSM) by vibration-controlled transient elastography (VCTE) with research ultrasound (US) patterns and conventional hepatic markers as a potential means to follow liver disease progression in children with CF. ELASTIC (Longitudinal Assessment of Transient Elastography in CF) is a nested cohort of 141 patients, ages 7-21, enrolled in the Prediction by US of Risk of Hepatic Cirrhosis in CF (PUSH) Study. We studied the association between LSM with research-grade US patterns (normal [NL], heterogeneous [HTG], homogeneous [HMG], or nodular [NOD]) and conventional hepatic markers. In a subgroup (n = 79), the association between controlled attenuation parameter (CAP) and US pattern was explored. Among 133 subjects undergoing VCTE, NOD participants (n = 26) had a significantly higher median (interquartile range) LSM of 9.1 kPa (6.3, 15.8) versus NL (n = 72, 5.1 kPa [4.2, 7.0]; P

Hepatocellular carcinoma (HCC) is rare in children and there is limited data on its imaging features. To describe imaging features of pediatric HCC and correlate them with clinical and laboratory findings. We retrospectively reviewed imaging in all pediatric HCC cases seen between January 2000 and January 2019. Imaging features defined in LI-RADS (Liver Imaging Reporting and Data System) and tumor extent by PRETEXT (pretreatment extent of disease) criteria were noted by two radiologists. Patient charts were reviewed to collect clinical features, alpha-fetoprotein (AFP) level and pathology findings. Of the 15 children (7 boys, 8 girls; mean age: 11.8 years, age range: 6–17 years) included in the study, 12/15 had computed tomography, 9/15 had magnetic resonance imaging and 9/15 had ultrasound exams available for review. Pathological types of HCC included classic (11/15, 73%), fibrolamellar (3/15, 20%) and mixed cholangiocarcinoma-HCC (1/15, 7%). Eighty percent occurred de novo in normal liver and 67% showed elevated AFP levels. Arterial phase hyperenhancement was seen in 83% of cases, washout in 86%, capsule in 50% and tumor-in-vein in 33%. The mean tumor size was 9.8 cm and 40% were multifocal on imaging. Staging revealed PRETEXT II tumors in 47%, III in 20% and IV in 33%. There were no PRETEXT I tumors. The two most common PRETEXT annotation factors were portal vein and caudate lobe involvement in 71% and 43% of cases, respectively. Fibrolamellar HCC demonstrated central scar, normal AFP levels and normal background liver. Pediatric HCC are large heterogeneous tumors, as reflected by high PRETEXT staging, and commonly include portal vein and caudate involvement. This affects resectability of these tumors at presentation. Central scar, normal AFP level and normal liver background may help differentiate fibrolamellar HCC from other types of HCC.

Abdominal US is emerging as an alternative to the upper gastrointestinal (GI) series as the preferred diagnostic imaging test for midgut malrotation complicated by volvulus. Unlike the upper GI series, US is free from ionizing radiation, does not require oral contrast agent, and can be performed portably and at times remotely from the interpreting radiologist, expediting diagnosis. Although some institutions do not have a standardized US protocol for midgut volvulus, many routinely use US in the setting of an infant or child with acute abdominal signs or symptoms to evaluate for common conditions such as hypertrophic pyloric stenosis, intussusception, necrotizing enterocolitis and appendicitis. Because these common conditions can overlap in age and clinical presentation with midgut volvulus, the aim of this pictorial essay is to provide instruction on the technique and diagnostic findings of midgut volvulus on US to ensure confident, accurate interpretation, and prompt treatment.

Nodular liver (NOD) in cystic fibrosis (CF) suggests advanced CF liver disease (aCFLD); little is known about progression of liver disease (LD) after detection of sonographic NOD.Clinical, laboratory, and ultrasound (US) data from Prediction by Ultrasound of the Risk of Hepatic Cirrhosis in CFLD Study participants with NOD at screening or follow-up were compared with normal (NL). Linear mixed effects models were used for risk factors for LD progression and Kaplan-Meier estimator for time-to-event.54 children with NOD (22 screening, 32 follow-up) and 112 NL were evaluated. Baseline (BL) and trajectory of forced expiratory volume, forced vital capacity, height/BMI z-scores were similar in NOD vs NL. Platelets were lower in NOD at BL (250 vs 331×10NOD developed clinically evident portal hypertension faster than NL without worse growth or lung disease.

The diaphragm is the key muscle of respiration, especially in infants. Diaphragmatic dysfunction and paralysis can have significant implications for medical management and treatment, and they can be challenging to diagnose by clinical parameters alone. Multiple imaging modalities are useful for assessing the diaphragm, but US - specifically M-mode US - offers several distinct advantages and few limitations compared to fluoroscopy, radiography, CT and MRI. The purpose of this manuscript is to discuss the pathophysiology of the diaphragm, review common indications for dynamic diaphragmatic US, describe optimal imaging technique, and discuss how to avoid imaging pitfalls.

Autoinflammatory diseases constitute a family of disorders defined by aberrant stimulation of inflammatory pathways without involving antigen-directed autoimmunity. They may be divided into monogenic and polygenic types. Monogenic autoinflammatory syndromes are those with identified genetic mutations, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency or hyperimmunoglobulin D syndrome, cryopyrin-associated periodic fever syndromes (CAPS), pyogenic arthritis pyoderma gangrenosum and acne (PAPA) syndrome, interleukin-10 and interleukin-10 receptor deficiencies, adenosine deaminase 2 deficiency and pediatric sarcoidosis. Those without an identified genetic mutation are known as polygenic and include systemic-onset juvenile idiopathic arthritis, idiopathic recurrent acute pericarditis, Behçet syndrome, chronic recurrent multifocal osteomyelitis and inflammatory bowel disease among others. Autoinflammatory disorders are defined by repeating episodes or persistent fever, rash, serositis, lymphadenopathy, arthritis and increased acute phase reactants, and thus may mimic infections clinically. Most monogenic autoinflammatory syndromes present in childhood. However, because of their infrequency, diverse and nonspecific presentation, and the relatively new genetic recognition, diagnosis is usually delayed. In this article, which is Part 1 of a two-part series, the authors update monogenic autoinflammatory diseases in children with special emphasis on imaging features that may help establish the correct diagnosis.

The clinical and plain radiographic differentiation of congenital intrinsic duodenal anomalies (atresia, web, stenosis) from intestinal malrotation is not always clear. Although sonography has been documented as an important diagnostic tool in the differentiation of these two entities, its role is still not widely appreciated and it is still not universally utilized in this clinical setting. To assess the usefulness of sonographic features of the duodenal and gastric wall in the differentiation of congenital intrinsic duodenal anomalies from midgut malrotation in a large series of neonates and to compare them with other features on abdominal radiographs, ultrasound and upper gastrointestinal series. Using the surgical database at our tertiary pediatric hospital, we identified neonates who had surgically proven congenital intrinsic duodenal anomalies or malrotation over a period of 15 years (2000–2015). We reviewed imaging findings in both groups of neonates (blinded to the final diagnosis) with attention to the echogenicity and thickness of the wall of the duodenum and stomach, the relationship between the superior mesenteric artery and vein, the position of the third portion of the duodenum and the presence of the whirlpool sign. Findings were compared between the groups using the unpaired t-test and Fisher exact test. We included 107 neonates in the study, 40 with a congenital intrinsic duodenal anomaly, 49 with malrotation (36 with volvulus) and 18 with a combination of both. Duodenal and gastric wall thickening and hyperechogenicity were significantly more common in the group with a congenital intrinsic duodenal anomaly compared to those with malrotation (P

Hepatocellular carcinoma (HCC) is rare in children and there is limited data on its imaging features.To describe imaging features of pediatric HCC and correlate them with clinical and laboratory findings.We retrospectively reviewed imaging in all pediatric HCC cases seen between January 2000 and January 2019. Imaging features defined in LI-RADS (Liver Imaging Reporting and Data System) and tumor extent by PRETEXT (pretreatment extent of disease) criteria were noted by two radiologists. Patient charts were reviewed to collect clinical features, alpha-fetoprotein (AFP) level and pathology findings.Of the 15 children (7 boys, 8 girls; mean age: 11.8 years, age range: 6-17 years) included in the study, 12/15 had computed tomography, 9/15 had magnetic resonance imaging and 9/15 had ultrasound exams available for review. Pathological types of HCC included classic (11/15, 73%), fibrolamellar (3/15, 20%) and mixed cholangiocarcinoma-HCC (1/15, 7%). Eighty percent occurred de novo in normal liver and 67% showed elevated AFP levels. Arterial phase hyperenhancement was seen in 83% of cases, washout in 86%, capsule in 50% and tumor-in-vein in 33%. The mean tumor size was 9.8 cm and 40% were multifocal on imaging. Staging revealed PRETEXT II tumors in 47%, III in 20% and IV in 33%. There were no PRETEXT I tumors. The two most common PRETEXT annotation factors were portal vein and caudate lobe involvement in 71% and 43% of cases, respectively. Fibrolamellar HCC demonstrated central scar, normal AFP levels and normal background liver.Pediatric HCC are large heterogeneous tumors, as reflected by high PRETEXT staging, and commonly include portal vein and caudate involvement. This affects resectability of these tumors at presentation. Central scar, normal AFP level and normal liver background may help differentiate fibrolamellar HCC from other types of HCC.

There is a broad spectrum of soft-tissue masses in children that can be challenging to diagnose clinically and on imaging. This article reviews the typical clinical and imaging findings of the most common and relevant benign, intermediate and malignant pediatric soft-tissue tumors in the following categories of the 2013 World Health Organization (WHO) classification: adipocytic tumors (lipoma, lipoblastoma, and liposarcoma), fibroblastic/myofibroblastic tumors (nodular fasciitis, myositis ossificans, fibrous hamartoma of infancy, fibromatosis colli, desmoid-type fibromatosis, lipofibromatosis, and infantile fibrosarcoma), pericytic tumors (myofibroma/myofibromatosis), skeletal muscle tumor (rhabdomyosarcoma), nerve sheath tumors (neurofibroma, malignant peripheral nerve sheath tumor), and uncertain differentiation (synovial sarcoma). In general, ultrasound and magnetic resonance imaging are used as first- and second-line imaging modalities, with limited roles for plain radiographs, computed tomography, and fluorodeoxyglucose-positron emission tomography. Many of these tumors have nonspecific imaging findings although there are some key imaging clues that in conjunction with the clinical information allow a specific diagnosis or a narrow differential diagnosis. However, in many instances, histology is required for final diagnosis.

This article discusses the role of imaging of the thyroid gland in children, highlighting pearls and pitfalls. In the pediatric age group, thyroid imaging is mainly performed for the evaluation of congenital hypothyroidism, diffuse thyroid enlargement, and thyroid nodules. Permanent congenital hypothyroidism is most often caused by thyroid dysgenesis. Diffuse thyroid enlargement is mainly seen in teenage girls, and most often caused by Hashimoto disease, nodular hyperplasia, Graves disease, or diffuse papillary carcinoma. Thyroid nodules are less common in children than they are in adults, but more likely to be malignant; TI-RADS criteria may underestimate the risk of malignancy in children, and lead to erroneous classification downgrading. Knowledge of unique features of thyroid imaging in the pediatric population is critical for accurate diagnosis and management recommendations.

Soft-tissue sarcomas in children comprise a heterogeneous group of entities with variable manifestation depending on the age of the patient and the location of the tumor. MRI is the modality of choice for evaluating musculoskeletal soft-tissue tumors and plays a paramount role in both initial diagnosis and assessment of tumor response during and after treatment. Conventional MRI sequences, such as T1- and T2-weighted imaging, offer morphologic information, which is important for localizing the lesion and describing anatomic relationships but not accurate for determining its malignant or benign nature and may be limited in differentiating tumor response from therapy-related changes. Advanced multiparametric MRI offers further functional information that can help with these tasks by using different imaging sequences and biomarkers. The authors present the role of MRI in rhabdomyosarcoma and other soft-tissue sarcomas in children, emphasizing a multiparametric approach with focus on the utility and potential added value of diffusion-weighted imaging (DWI) and dynamic contrast-enhanced MRI in characterization and staging, determination of pretreatment extent, and evaluation of tumor response and recurrence after treatment. ©RSNA, 2020.

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare, benign neoplasm of neural crest origin more commonly seen in the craniofacial region. We report a case of MNTI of the epididymis in a 6-month-old male child with emphasis on the sonographic appearance which has not been previously described. In this case, the mass was inseparable from the testicle and therefore the differential diagnosis considered both extratesticular and intratesticular masses. MNTI should be added to the differential diagnosis of scrotal masses, particularly if they present in a child younger than 12 months of age.

Purpose To retrospectively define the strength of association between testicular microlithiasis and testicular neoplasia in a large geographically diverse pediatric population. Materials and Methods Retrospective review of scrotal ultrasonographic (US) examination reports and pathology specimens obtained between January 2000 and May 2014 at six academic pediatric hospitals in North America was performed. Reported cases were reviewed to confirm microlithiasis. Radiology and pathology data bases were searched for pathology-proven testicular tumors (benign or malignant germ cell or stromal tumors). Association strength (risk) was expressed in terms of odds ratios (ORs) with and without adjustment for fixed study site effects based on logistic regression. Results A total of 37 863 individuals underwent scrotal US during the study period. Mean age was 11.1 years ± 4.7 [standard deviation] in boys with microlithiasis and 9.1 years ± 5.9 in boys without microlithiasis (P < .001). Microlithiasis was confirmed in 2.90% of patients (1097 of 37 863; range, 1.61%-5.25% across sites). It was unilateral in 21.97% (241 of 1097) of patients and bilateral in 78.0% (856 of 1097). Tumor was identified in 4.64% (51 of 1097) of boys with microlithiasis and 0.33% (122 of 36 766) of boys without (unadjusted OR, 14.65; 95% confidence interval [CI]: 10.29, 20.84; adjusted OR, 14.19). Malignant germ cell tumors were identified in 2.8% (31 of 1097) of boys with microlithiasis and 0.12% (45 of 36 766) of boys without microlithiasis (unadjusted OR, 17.26; 95% CI: 11.8, 25.25; adjusted OR, 22.37). Sex cord-stromal tumors were identified in 0.46% (five of 1097) of boys with microlithiasis and 0.079% (29 of 36 766) of boys without (unadjusted OR, 5.8; 95% CI: 2.1, 16; adjusted OR, 6.39). Conclusion There is a strong association between testicular microlithiasis and primary testicular neoplasia in this pediatric population. © RSNA, 2017.

Tumors of the foot are rare in children. In this review the authors illustrate radiographic, sonographic and MR imaging findings of foot soft-tissue tumors in children based on all cases presenting at a tertiary pediatric hospital during the 15-year period of 1999-2014. Among these cases there were 155 tumors of the foot - 72 of the bones and 83 of the soft tissues. Vascular malformations, fibromatosis and sarcomas were respectively the most frequent benign, intermediate and malignant soft-tissue tumors. Some tumors showed specific imaging findings. In imaging investigations, ultrasound can be used as the first imaging modality for diagnostic workup of most lesions because it is noninvasive, low-cost and readily available, and can confirm the presence of the mass and evaluate cystic components, especially in young children who would otherwise require sedation for MR imaging. MR imaging is the reference standard technique because of its high tissue contrast, which allows for detection and characterization of soft-tissue and bone abnormalities. MR imaging is useful as the first imaging modality in select cases, including those with high suspicion of malignancy, very large lesions or pre-treatment lesions. Recognition of some typical imaging findings in pediatric soft-tissue foot tumors is helpful to establish diagnosis and facilitate patient management.

Sonography can be used in the management of pediatric soft-tissue vascular anomalies for diagnosing, for assessing lesion extent and for evaluating complications and response to therapy. The sonographic technique includes a combination of gray-scale imaging with color and spectral Doppler techniques. However the interpretation of the sonographic findings requires correlation with the clinical findings, some of which can be easily obtained at the time of scanning. This has to be combined with the use of appropriate nomenclature and the most updated classification in order to categorize these children into the appropriate management pathway. In this article, which is part 1 of a two-part series, the authors review the current classification of vascular anomalies, provide a clinical and a sonographic approach to these lesions, and review the most relevant clinical and sonographic features of vascular tumors including infantile and congenital hemangiomas, tufted angioma, kaposiform hemangioendothelioma, pyogenic granuloma, intramuscular capillary-type hemangioma and angiosarcoma.

Vascular malformations are a heterogeneous group of entities, many of which present in the pediatric age group. Sonography plays a major role in the management of children with these vascular anomalies by providing information that helps in diagnosing them, in assessing lesion extent and complications, and in monitoring response to therapy. The interpretation of sonographic findings requires correlation with clinical findings, some of which can be easily obtained at the time of scanning. This has to be combined with the use of appropriate nomenclature and the most updated classification in order to categorize these patients into the appropriate management pathway. Some vascular malformations are part of combined vascular anomalies or are associated with syndromes that include other disorders, frequently limb overgrowth, and these are now being reclassified based on their underlying genetic mutation. Sonography has limitations in the evaluation of some vascular malformations and in these cases MR imaging might be considered the imaging modality of choice, particularly for lesions that are large, that involve multiple compartments or are associated with other soft-tissue and bone abnormalities. In this article, which is part 2 of a two-part series, the authors review the most relevant clinical and sonographic features of arteriovenous, capillary, venous and lymphatic malformations as well as vascular malformations that are part of more complex conditions or associated with syndromes, including Parkes-Weber syndrome, phosphatase and tensin homologue (PTEN) hamartoma tumor syndromes, Klippel-Trénaunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi and skeletal anomalies) syndrome, fibro-adipose vascular anomaly and Proteus syndrome.

MR imaging is used to assess iron overload in patients with hemoglobinopathies and in those who have undergone multiple blood transfusions. Sometimes splenic nodules are found incidentally on these examinations and this may cause diagnostic uncertainty. To determine the prevalence, imaging characteristics and evolution of splenic nodules found on MR imaging for iron overload evaluation. Retrospective review of all MR imaging examinations performed for iron overload assessment from 2005 to 2015 in a tertiary pediatric hospital. The presence of focal splenic nodules including number, size, signal characteristics and changes on follow-up MR imaging were recorded. Relevant patient clinical information including underlying hematological disease was also documented. A total of 318 patients had MR imaging for iron overload assessment. Of these, 25 (8%) had at least one incidental splenic nodule. Sickle cell disease was present in 22 patients (88%) and thalassemia in 3 (12%). On intermediate-weighted spin-echo images, the nodules had high signal intensity compared to the remainder of the spleen in 23 patients (92%) and low signal intensity in the remaining 2 (8%). In all patients (100%) the nodules showed progressive loss of signal intensity with increasing echo time values. Follow-up MR imaging was performed in 20 (80%) patients, which showed an increase in the size of the splenic nodules in 7 patients (35%) stability in 11 (55%) and a decrease in size in 2 (10%). It is not uncommon to find splenic nodules during MR evaluation of iron overload. In patients with sickle cell disease, most of these nodules are thought to represent preserved splenic tissue and appear hyperintense compared to the remainder of the spleen. They frequently remain stable on follow-up imaging, although about a third of them may show growth. Awareness of these nodules is important to avoid concern for potential malignancy and unnecessary investigations.

To assess if a heterogeneous pattern on research liver ultrasound examination can identify children at risk for advanced cystic fibrosis (CF) liver disease.Planned 4-year interim analysis of a 9-year multicenter, case-controlled cohort study (Prospective Study of Ultrasound to Predict Hepatic Cirrhosis in CF). Children with pancreatic insufficient CF aged 3-12 years without known cirrhosis, Burkholderia species infection, or short bowel syndrome underwent a screening research ultrasound examination. Participants with a heterogeneous liver ultrasound pattern were matched (by age, Pseudomonas infection status, and center) 1:2 with participants with a normal pattern. Clinical status and laboratory data were obtained annually and research ultrasound examinations biannually. The primary end point was the development of a nodular research ultrasound pattern, a surrogate for advanced CF liver disease.There were 722 participants who underwent screening research ultrasound examination, of which 65 were heterogeneous liver ultrasound pattern and 592 normal liver ultrasound pattern. The final cohort included 55 participants with a heterogeneous liver ultrasound pattern and 116 participants with a normal liver ultrasound pattern. All participants with at least 1 follow-up research ultrasound were included. There were no differences in age or sex between groups at entry. Alanine aminotransferase (42 ± 22 U/L vs 32 ± 19 U/L; P = .0033), gamma glutamyl transpeptidase (36 ± 34 U/L vs 15 ± 8 U/L; P .001), and aspartate aminotransferase to platelet ratio index (0.7 ± 0.5 vs 0.4 ± 0.2; P .0001) were higher in participants with a heterogeneous liver ultrasound pattern compared with participants with a normal liver ultrasound pattern. Participants with a heterogeneous liver ultrasound pattern had a 9.1-fold increased incidence (95% CI, 2.7-30.8; P = .0004) of nodular pattern vs a normal liver ultrasound pattern (23% in heterogeneous liver ultrasound pattern vs 2.6% in normal liver ultrasound pattern).Research liver ultrasound examinations can identify children with CF at increased risk for developing advanced CF liver disease.

An earlier incorrect version of this article appeared online. This article was corrected on December 17, 2019.

Objectives Early identification of children with cystic fibrosis (CF) at risk for severe liver disease (CFLD) would enable targeted study of preventative therapies. There is no gold standard test for CFLD. Ultrasonography (US) is used to identify CFLD, but with concerns for its diagnostic accuracy. We aim to determine if differences in standard blood tests, imaging variables and noninvasive liver fibrosis indices correlate with liver US patterns, and thus provide supportive evidence that a heterogeneous US liver pattern reflects clinically relevant liver disease. Methods We studied baseline research abdominal US and bloodwork from 244 children with pancreatic insufficient CF, ages 3 to 12 years, enrolled in a prospective study of the ability of US to predict CF cirrhosis (PUSH study). Children with a heterogeneous (HTG) liver pattern on US (n = 62) were matched 1 : 2 in design with children with normal US (NL, n = 122). Analyses included children with nodular (NOD, n = 22) and homogeneous hyperechoic (HMG, n = 38) livers. Results Univariate analysis showed significant differences between US groups for standard blood tests, spleen size, and noninvasive liver fibrosis indices. Multivariable models discriminated NOD versus NL with excellent accuracy (AUROC 0.96). Models also distinguish HTG versus NL (AUROC 0.76), NOD versus HTG (0.78), and HMG versus NL (0.79). Conclusions Liver US patterns in children with CF correlate with platelet count, spleen size and indices of liver fibrosis. Multivariable models of these biomarkers have excellent discriminating ability for NL versus NOD, and good ability to distinguish other US patterns, suggesting that US patterns correlate with clinically relevant liver disease.

Autoinflammatory diseases constitute a family of disorders defined by aberrant stimulation of inflammatory pathways without involving antigen-directed autoimmunity. They may be divided into monogenic and polygenic types. Monogenic autoinflammatory syndromes are those with identified genetic mutations, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency or hyperimmunoglobulin D syndrome, cryopyrin-associated periodic fever syndromes (CAPS), pyogenic arthritis pyoderma gangrenosum and acne (PAPA) syndrome, interleukin-10 and interleukin-10 receptor deficiencies, adenosine deaminase 2 deficiency and pediatric sarcoidosis. Those without an identified genetic mutation are known as polygenic and include systemic-onset juvenile idiopathic arthritis, idiopathic recurrent acute pericarditis, Behcet syndrome, chronic recurrent multifocal osteomyelitis and inflammatory bowel disease among others. Autoinflammatory disorders are defined by repeating episodes or persistent fever, rash, serositis, lymphadenopathy, arthritis and increased acute phase reactants, and thus may mimic infections clinically. Most monogenic autoinflammatory syndromes present in childhood. However, because of their infrequency, diverse and nonspecific presentation, and the relatively new genetic recognition, diagnosis is usually delayed. In this article, which is Part 1 of a two-part series, the authors update monogenic autoinflammatory diseases in children with special emphasis on imaging features that may help establish the correct diagnosis.

Study Objective To evaluate the diagnostic performance of the Decision Tree System (DTS) rules 2 and 3 for surgically managed adnexal masses in the North American population and to compare it to the risk stratification criteria used at The Hospital for Sick Children (≥8 cm and complex/solid). Design A retrospective cohort study of patients who presented with adnexal masses and were surgically treated between April 2011 and March 2016. Setting The Hospital for Sick Children (Toronto, Ontario, Canada). Participants Patients 1-18 years of age with adnexal masses who underwent surgical treatment. Main Outcome Measures Main outcome measures included diagnostic performance (preoperative sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) for malignancy) of the DTS and ≥8 cm and complex/solid criteria. Results The malignancy rate was 11.0%. The DTS had a sensitivity (95% CI) of 84% (79-90), specificity of 77% (71-83), PPV of 30% (17-42), and NPV of 98% (94-100). The ≥8 cm and complex/solid criteria had a sensitivity of 89% (85-94), specificity of 71% (64-77), PPV of 27% (16-38), and NPV of 98% (96-100). Conclusions Our study demonstrated that DTS rules 2 and 3 had similar diagnostic performance to the ≥8 cm and complex/solid criteria in the same population, with a very high NPV and a low PPV. Future prospective investigation should be conducted to further assess how DTS components can be incorporated into future algorithms for the management of adnexal masses in the pediatric population.

The diagnosis of soft-tissue masses in children can be difficult because of the frequently nonspecific clinical and imaging characteristics of these lesions. However key findings on imaging can aid in diagnosis. The identification of macroscopic fat within a soft-tissue mass narrows the differential diagnosis considerably and suggests a high likelihood of a benign etiology in children. Fat can be difficult to detect with sonography because of the variable appearance of fat using this modality. Fat is easier to recognize using MRI, particularly with the aid of fat-suppression techniques. Although a large portion of fat-containing masses in children are adipocytic tumors, a variety of other tumors and mass-like conditions that contain fat should be considered by the radiologist confronted with a fat-containing mass in a child. In this article we review the sonographic and MRI findings in the most relevant fat-containing soft-tissue masses in the pediatric age group, including adipocytic tumors (lipoma, angiolipoma, lipomatosis, lipoblastoma, lipomatosis of nerve, and liposarcoma); fibroblastic/myofibroblastic tumors (fibrous hamartoma of infancy and lipofibromatosis); vascular anomalies (involuting hemangioma, intramuscular capillary hemangioma, phosphate and tensin homologue (PTEN) hamartoma of soft tissue, fibro-adipose vascular anomaly), and other miscellaneous entities, such as fat necrosis and epigastric hernia.

Systemic connective tissue disorders are characterized by the presence of autoantibodies and multiorgan system involvement. Juvenile systemic lupus erythematosus with or without associated antiphospholipid syndrome; juvenile dermatomyositis; sclerodermiform syndromes, including systemic and localized sclerodermas and eosinophilic fasciitis; mixed connective tissue disease; and Sjogren syndrome are the disorders that affect children most frequently. Diagnosis is difficult, because the clinical presentation of patients is diverse, from mild to severe disease. In addition, all organs may be affected. However, a variety of imaging techniques are now available to investigate rheumatic disease in children. These imaging modalities offer the potential for earlier diagnosis and improved assessment of therapeutic response. This article reviews the main connective tissue disorders that affect children, highlighting their key imaging features on images acquired with different diagnostic imaging modalities and correlating these features with clinical and pathologic findings, when available. ©RSNA, 2019.

Angiomatoid fibrous histiocytoma is a rare soft-tissue tumor that more often affects children and young adults. There is little information available regarding the imaging appearance of angiomatoid fibrous histiocytoma in children.To describe the ultrasonographic (US) and magnetic resonance (MR) imaging findings of angiomatoid fibrous histiocytoma in children.A retrospective analysis was done of US and MR imaging findings in children with angiomatoid fibrous histiocytoma. Clinical findings and histopathology with molecular analysis results were also collected.There were 7 children with angiomatoid fibrous histiocytoma with a median age of 6 years (age range: 16 months-14 years). Patients presented clinically with a soft-tissue mass in the extremities or in the trunk. Four children had anemia, and three of them had additional systemic symptoms. Two patients had US and three had MR imaging while the remaining two had both. Lesion size ranged from 1.3 cm to 7.2 cm. In four patients, angiomatoid fibrous histiocytoma presented as a nonspecific predominantly solid mass. The other three patients had a combination of the following imaging findings: intralesional blood-filled cystic spaces with fluid-fluid levels, enhancing fibrous pseudocapsule and hemosiderin deposition. These findings correlated well with histopathology.The imaging detection of intralesional blood-filled cystic spaces with fluid-fluid levels, enhancing fibrous pseudocapsule and hemosiderin deposition in a soft-tissue tumor in a child may suggest the diagnosis of angiomatoid fibrous histiocytoma. A history of systemic symptoms and anemia in the presence of a soft-tissue mass may also be a clue for the diagnosis of angiomatoid fibrous histiocytoma.

No study reported in the literature comprehensively compares findings on neonatal abdominal radiographs with sonography. To compare the findings on abdominal radiographs and sonograms in infants in intensive care, to better understand how the various intestinal gas patterns on radiographs relate to the spectrum of appearances on sonography and, second, to evaluate the ability of sonography to differentiate necrotizing enterocolitis from other intestinal pathology. We prospectively evaluated sonograms and radiographs, blinded to the other modality and to clinical information. Patients’ charts were reviewed by a third blinded reader and used as a reference standard for diagnosis. We made associations between sonographic findings, radiographic intestinal gas patterns and clinical diagnoses. We included 75 infants with gestational ages between 23 weeks and 41 weeks. Sonographic abnormalities were present in infants with all radiographic intestinal gas patterns, including normal patterns. We only saw absent intestinal perfusion and fluid collections on sonography (suggesting intestinal necrosis and sealed perforation) in infants with intestinal dilatation with elongation on radiographs. Separation of intestinal loops on radiographs was most commonly caused by reasons other than intestinal wall thickening. Increased intestinal echogenicity or free fluid with echoes on sonography correlated with a diagnosis of necrotizing enterocolitis, whereas anechoic free fluid correlated with absence of necrotizing enterocolitis. Sonography is complementary to radiographs in infants with suspected intestinal pathology, with a spectrum of appearances seen on each modality. Some sonographic findings either strongly suggest necrotizing enterocolitis or supply evidence against this diagnosis.

The inguinal canal is often seen at the edge of the field of view on plain radiography, computed tomography, or magnetic resonance imaging and may often not be scanned when performing sonography of the scrotum or abdomen. As a result, pathology in this anatomical region may be easily overlooked. The peculiar embryology of the inguinal canal makes the identification of pathology in the inguinal region significant, as some of the processes that take place within the scrotum may originate in the abdomen, and vice versa. This article reviews the relevant embryology of the inguinal canal, discusses abdominal and scrotal conditions that involve the inguinal region, and illustrates associated pathology.

Pancreatic tumors are rare in children, resulting in limited information regarding their frequency and imaging appearances. To review all pancreatic tumors seen in children over a decade at a large tertiary pediatric institution and to describe multimodality imaging findings. We conducted a retrospective review of imaging studies performed in children with pancreatic tumors between January 2000 and December 2012, analyzing imaging features on available US, CT and MR examinations. We reviewed patient charts for clinical features, management and final diagnosis. We included 23 children in this study. Of these, 12 had solid and papillary epithelial neoplasms (SPEN), 3 had neuroendocrine tumors, 3 had lymphoma, and 1 each had hemangioendothelioma, benign congenital cysts with adipose tissue, dendritic cell sarcoma, metastatic rhabdomyosarcoma, and lipoma. All children with SPEN were teenage girls. SPEN showed characteristic imaging features including well-defined margins with surrounding capsule, solid-cystic components and hemorrhage. Pancreatic tumors are uncommon in children. SPEN is the most common tumor and is seen predominantly in teenage girls and shows characteristic imaging features.

In some series of malrotation small numbers of children are described in whom the position of the duodenojejunal flexure was considered to be normal on straight anteroposterior (AP) view of an upper gastrointestinal (UGI) series.The purpose of this study was to illustrate children with disorders of midgut rotation in whom the diagnosis was difficult because on the straight AP view of the UGI series the duodenojejunal flexure was either not clearly depicted or was projected to the left of the midline close to its expected normal position at or close to the level of the duodenal cap.We reviewed 111 children with malrotation to determine the frequency that duodenojejunal flexure was not clearly depicted or was close to normal position.Seven patients had close to normal position of duodenojejunal flexure on AP view. The correct diagnosis was made on initial UGI series in four patients based on other features on AP and lateral views. In two of the other three patients, a repeat UGI series facilitated the correct diagnosis. In the final patient, an abnormal position of a nasojejunal tube suggested the correct diagnosis.Accurate diagnosis of anomalies of midgut rotation requires careful assessment of the entire duodenal sweep on both AP and lateral views to avoid false-negative interpretations.

Zebra spleen is the normal pattern of splenic enhancement during the arterial phase of CT and MRI and is attributed to different flow rates. The purpose of this study was to describe the appearance and occurrence of bands of hypoechogenicity in the spleen on unenhanced sonograms of children with no splenic abnormalities.We reviewed 100 abdominal ultrasound studies to evaluate the ultrasound characteristics of the spleen. Demographic data were collected for all patients.Homogeneous echogenicity of the spleen was found in 92 children. Heterogeneous echogenicity was present in eight. Three of the eight had discrete macronodules due to known splenic disease. The other five had bands of hypoechogenicity. These five had no known splenic disease, but one had mild splenomegaly of unknown cause.The pattern of hypoechoic bands occurred in 5% of our series. This pattern cannot be explained simply by different flow rates and probably reflects different structural components of the parenchyma. At ultrasound this pattern should be considered a normal finding that may simulate a splenic mass.

Purpose To determine interobserver agreement (IOA) and accuracy of conventional MR enterography (MRE), qualitative diffusion, and apparent diffusion coefficient (ADC) values for detecting clinically active inflammation. Methods MREs in 57 consecutive children with suspected inflammatory bowel disease were retrospectively reviewed. Results Substantial IOA for conventional MRE (kappa=0.65) and qualitative diffusion (kappa=0.64), but fair to good IOA for ADC, (intra-class coefficient=0.63) were seen. Conventional MRE detected active clinical inflammation well (area under curve [AUC] 0.725), while qualitative diffusion and ADC did not perform well (AUC=0.572 and 0.461, respectively). Conclusion DWI can be helpful in diagnosing inflammatory bowel disease but does not perform well in identifying those with active inflammation.

The diagnosis of soft tissue masses in children can be challenging because there is a broad spectrum of entities that can present as such. Ultrasonography is the primary diagnostic imaging modality in the pediatric age and is especially useful for small and superficial lesions. MR imaging can be helpful, particularly in the evaluation of large and deep soft tissue lesions. Correlation of the imaging findings with the clinical information is crucial in the diagnostic work-up. This article reviews the most common causes of soft tissue masses that require imaging in children.

Background Infants with stage 4 and 4S neuroblastoma (NB) have a superior prognosis to older children. However, they often require intensive therapy including abdominal radiation. We aimed to investigate the long-term hepatic outcomes in infants with stage 4S and 4 NB. Methods We reviewed the charts of 38 infants diagnosed with stage 4S and 4 NB between 1984 and 2002. We included only those with available follow-up 5 years following diagnosis. We assessed hepatic imaging and function (transaminases, bilirubin, alkaline phosphatase) at all available time points from diagnosis. Abnormalities present at more than 5 years from diagnosis were considered persistent late changes. Results We identified 15 stage 4S and 12 stage 4 patients. Twelve of 15 stage 4S patients had hepatic involvement at diagnosis, 8 of whom required abdominal radiation. Five of eight demonstrated late imaging changes. Two of four with hepatic metastases but no radiation demonstrated late imaging changes. The late imaging changes resolved over time and without intervention in 3/7 survivors. The persistent lesions included liver fibrosis (1) and focal nodular hyperplasia (FNH) (3). Five of 12 stage 4 NB patients had hepatic involvement at diagnosis; none required radiation or had late hepatic imaging changes. Conclusions In stage 4S NB, adverse hepatic effects are infrequent, may resolve over time, and occur with or without radiation. FNH should be considered in those with persistent late imaging changes. Adverse hepatic outcomes after liver involvement or radiation in infants with stage 4 NB rarely occur. Pediatr Blood Cancer 2012; 58: 283–288. © 2011 Wiley Periodicals, Inc.

In neonates and children, sonographic examinations of the renal pyramids may depict a spectrum of unique changes in echogenicity due to the effects of physiologic processes or a wide variety of pathologic processes that may affect the collecting ducts or interstitium of the pyramids. Focused sonographic evaluation of the pyramids with high-frequency transducers produces the most detailed images of the pyramids, revealing some appearances not previously reported, to the authors' knowledge. The authors highlight the clinical settings in which they have documented detailed changes in the echogenicity of the pyramids. The patterns of altered echogenicity alone may reflect a specific cause but in many instances are nonspecific, with clinical and biochemical correlation required to establish a more precise diagnosis. However, there is a lack of histologic data to completely explain the mechanism of many of these changes in echogenicity in all of the processes. As the authors have expanded their use of the focused sonographic technique, they have been able to depict altered echogenicity in the pyramids in greater numbers of children in whom an explanation for the changes is not always immediately apparent; for now, the cause must be considered idiopathic. More work is required to expand the use of this focused technique together with clinical, biochemical, and histologic correlation in an attempt to offer more complete explanations for the changes in echogenicity of the pyramids.

The relationship between sonographic features of renal venous thrombosis (RVT) and outcome has not been described in a large series of patients. To analyze sonographic findings of RVT and their evolution in a large series of patients and to attempt to identify features that might predict outcome. Retrospective analysis of sonograms and medical records of neonates and infants diagnosed with RVT during the period 1998-2007. Of 22 children (mean age: 3 days; age range: 0–107 days), RVT was bilateral in 12. Of 34 affected kidneys, thrombus in the main renal vein was seen in 17 and typical RVT sonographic findings without main renal vein thrombus were seen in the remaining 17. All children had US follow-up (range: 0.6–97.2 months). Three children with bilateral RVT died. Nine kidneys atrophied. Imaging findings associated with subsequent kidney atrophy included markedly reduced perfusion at diagnosis, subcapsular collections, patchy cortical echotexture and profoundly hypoechoic and irregular renal pyramids. Six patients (eight kidneys) presented with renal calcifications on initial sonogram before 7 days of life, suggesting antenatal RVT. Sonography is useful in neonatal and early infant RVT and might help predict renal atrophy. Antenatal RVT appears to be relatively common.