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Background: PTEN-related hamartoma tumor syndrome results from a mutation in the PTEN gene located at 10q23.31. This syndrome represents a spectrum of different phenotypes of variable expressions, now recognized as part of the same condition. Patients with this mutation have an increased risk of developing a wide range of findings, including malignancies. Although widely described in adults, there are no large series describing the imaging findings in patients before adulthood. Knowledge of the findings seen in children and adolescents with PTEN-related hamartoma tumor syndrome can help guide further management and improve surveillance recommendations. Objective: To describe the spectrum of imaging abnormalities in pediatric patients with PTEN-related hamartoma tumor syndrome. Materials and methods: We performed a retrospective, cross-sectional, multicenter study conducted between January 2000 and October 2021 in three tertiary pediatric institutions evaluating the imaging findings in children and adolescents (≤ 18 years) with confirmed diagnoses of a PTEN mutation. For each patient, the imaging findings, histopathology reports, and at least a 2-year follow-up of clinical outcomes for non-operative cases were documented. Results: The cohort included 78 children (37 girls), with a mean age at diagnosis of 7.5 years (range 0 days to 18 years). Benign brain findings included enlarged Virchow-Robin perivascular spaces, white matter changes, developmental venous anomalies, and cerebellar hamartomas. Benign thyroid findings were common, but 5/45 (11.1%) with thyroid abnormalities had a malignant nodule. Soft tissue adipocytic tumors, GI/GU polyps, other soft tissue abnormalities, along with vascular anomalies in various anatomic locations were common. Conclusion: Brain abnormalities, benign non-vascular soft tissue abnormalities, and vascular anomalies are commonly seen in children and adolescents with PTEN-related hamartoma tumor syndrome. However, malignancies involving the thyroid gland are not uncommon. Familiarity with the phenotype of PTEN-related hamartoma tumor syndrome in the pediatric population can improve diagnosis and prompt appropriate clinical surveillance of abnormal findings that warrant further management. [ABSTRACT FROM AUTHOR]

We present the case of a 9-year-old girl who developed striking bone changes following two years of denosumab therapy for giant cell lesions of the jaw. [ABSTRACT FROM AUTHOR]

Background: Thyroid nodules are unusual in children, but when present, they carry a higher risk for malignancy, as compared to adults. Several guidelines have been created to address the risk stratification for malignancy of thyroid nodules in adults, but none has been completely validated in children. A few authors have proposed lowering the size threshold to the American College of Radiology Thyroid Imaging, Reporting and Data System (ACR TI-RADS™) management guidelines to decrease missed carcinomas at presentation in children; however, little information is known regarding their accuracy. Objective: To assess the performance of proposed modifications of the ACR TI-RADS™ size criteria to guide management decisions in pediatric thyroid nodules and to assess the associated increase in number of fine needle aspiration (FNA) and follow-up exams. Materials and methods: This is a retrospective study of children under 18 years old who underwent ultrasound assessment of a thyroid nodule at a tertiary care pediatric institution between January 2006 and August 2021. The largest dimension, maximum ACR TI-RADS™ score, and final thyroid nodules' diagnoses were documented. The course of action based on the adult ACR TI-RADS™ and after modifying the size threshold for management recommendations was documented and compared. Statistics included descriptive analysis, weighted Kappa statistics, sensitivity, specificity, accuracy, and positive/negative predictive values of the ACR TI-RADS™ presented with 95% confidence intervals (CI) using either Clopper–Pearson or standard logit methods. Results: Of 116 nodules, 18 (15.5%) were malignant. Most malignant nodules (94.4%, n = 17) were ACR TI-RADS™ 4 and ACR TI-RADS™ 5 categories. Based on the adult ACR TI-RADS™ criteria, 24 (24.5%) benign and 15 (83.3%) malignant nodules would have undergone FNA; 14 (14.3%) benign and 3 (16.7%) malignant nodules would have been followed up; and 60 (61.2%) benign and none of malignant nodules would have been dismissed. Three (16.7%) malignant nodules would not have been recommended FNA at presentation, delaying their diagnoses. By lowering the size-threshold criteria of the ACR TI-RADS™ guidelines, no malignancy would have been missed at presentation, but this also resulted in a higher number of FNA from 24 (24.5%) to 36 (36.7%) and follow-up ultrasound exams from 14 (14.3%) to 62 (63.3%). Conclusion: Applying potential modifications to the ACR TI-RADS™ guideline lowering the size threshold criteria of the thyroid nodule to guide management decisions for pediatric thyroid nodules can lead to early detection of malignant nodules in children, but at the cost of a significantly increased number of biopsies or ultrasound exams. Further tailoring of the guideline with larger multicentric studies is needed, before warranting its acceptance and general use in the pediatric population. [ABSTRACT FROM AUTHOR]

Idiopathic intracranial hypertension, or pseudotumor cerebri, is an increase in cerebrospinal fluid pressure of unknown etiology. It is mostly seen in adults, less frequently in adolescents, rarely in younger children. Only 5 infants meeting idiopathic intracranial hypertension criteria have been mentioned in the literature. We report a case of a previously healthy 9-month-old boy who presented with irritability, decreased appetite, and a bulging fontanelle. Computed tomography (CT) head imaging and cerebrospinal fluid studies revealed normal results. The patient's symptoms transiently resolved after the initial lumbar puncture, but 11 days later, his fontanelle bulged again. A second lumbar puncture revealed an elevated opening pressure of 35 cmH2O and led to a diagnosis of idiopathic intracranial hypertension in accordance with the modified Dandy Criteria. Treatment with acetazolamide at a dose of 25 mg/kg/d was initiated and the patient remained symptom-free for 6 weeks, followed by another relapse. His acetazolamide dose was increased to 37 mg/kg/d, with no further relapses to date. A diagnosis of idiopathic intracranial hypertension is challenging in infants, because the patients cannot yet verbalize typical idiopathic intracranial hypertension–related symptoms such as positional headaches, diplopia, or pulsatile tinnitus. Furthermore, it is more difficult to assess papilledema in that age group. If undetected and untreated, idiopathic intracranial hypertension may result in permanent visual deficits. Little is known about idiopathic intracranial hypertension in infants, and age-specific treatment guidelines are lacking. We discuss this rare case of infantile idiopathic intracranial hypertension and provide a review of the literature, including an overview of disease characteristics and outcomes of idiopathic intracranial hypertension in this very young age group. [ABSTRACT FROM AUTHOR]

Background: Concern regarding gadolinium deposition in the brain after repeated administration of intravenous gadolinium-based contrast agents has prompted evaluation of imaging alternatives.Objective: The study purpose was to determine if magnetic resonance imaging (MRI) using conventional sequences with diffusion-weighted imaging (DWI) instead of gadolinium-based contrast-enhanced MRI is valid for local staging and guiding biopsies in osseous sarcomas.Materials and Methods: Initial pretreatment MRI with DWI and gadolinium-based contrast-enhanced images in patients ≤ 18 years with histopathologically proven osseous sarcomas were included. Two radiologists blinded to collated demographic and clinical data, independently reviewed conventional/DWI and conventional/gadolinium-based contrast-enhanced MRI then conventional sequences alone, recording tumor size, skip lesions, necrosis, neurovascular invasion, enlarged lymph nodes and diffusion restriction. Discrepancies were resolved by a third reader. A single reader measured apparent diffusion coefficient (ADC) values in non-necrotic tumors, then correlated minimum ADC values -- with and without normalization to skeletal muscle -- with relative enhancement.Results: Twenty-one patients (mean age: 11.3±4.2 years, 15 [71%] females) had 14 osteosarcomas and 7 Ewing sarcomas, 50% centered in the femur. Conventional/DWI versus conventional/gadolinium-based contrast-enhanced MRI showed agreement for tumor size estimation with significant associations for necrosis (P=0.021), neurovascular involvement (P<0.001) and enlarged lymph nodes (P=0.005). Diagnostic accuracy of conventional/DWI is comparable to conventional/gadolinium-based contrast-enhanced MRI and superior to conventional sequences alone. Comparison between minimum ADC values and relative enhancement showed no correlation (P>0.05).Conclusion: Significant associations of key imaging features in the initial assessment of osseous sarcomas support DWI as an alternative to gadolinium-based contrast-enhanced MRI. The lack of association between ADC values and relative enhancement suggests that they measure independent constructs, DWI dependent upon tumor cellularity and perfusion. [ABSTRACT FROM AUTHOR]

Objectives: To determine parental preferences for diagnostic imaging tests (DITs) for paediatric appendicitis, to rank the attributes impacting the DIT selection and to identify DIT attributes that would cause parents to switch their DIT. Methods: Parents of children who had an abdominal ultrasound (US) for right lower quadrant pain were interviewed. Two DITs were compared at a time, parents were asked to indicate their preferred test and to rank its attributes according to the impact each attribute had on their selection. The strength of their preference for the chosen DIT was measured by systematically adjusting attributes of the chosen DIT until the parent changed their choice. Results: Fifty parents were interviewed. For US versus CT, more parents preferred US (68%, P=0.02) with higher importance ranks for cancer risk (P<0.0001), test accuracy (P=0.04), pain during test (P=0.3), and scan length (P<0.0001); and lower ranks for sedation (P=0.02), intravenous (IV) (P<0.02), and oral contrast (P=0.06). For US versus MRI, parents preferred MRI (78%, P<0.0001) with higher importance ranks for accuracy (P=0.2), pain during test (P=0.06), and scan length (P=0.06); and lower for noise (P<0.0001), claustrophobia (P<0.0001), use of IV contrast (P=0.06), and sedation (P=0.2). Conclusion: US and MRI were the DIT preferred by parents for the investigation of acute paediatric appendicitis. [ABSTRACT FROM AUTHOR]

Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is a rare autosomal-dominant autoinflammatory disease of incomplete penetrance and variable expression. PAPA syndrome is the result of a mutation in the proline serine threonine phosphatase-interacting protein 1 (PSTPIP1/CD2BP1) gene located on chromosome 15, which results in an abnormal overproduction of the pro-inflammatory cytokine interleukin-1β (IL-1). This syndrome clinically manifests as early onset of recurrent episodes of acute aseptic inflammation of the joints, generally occurring in the first two decades of life, followed by manifestation of characteristic skin lesions in the third decade, after an obvious decline in the joint symptoms. Although uncommon, the potential clinical implications of PAPA syndrome warrant an appropriate diagnosis in a timely fashion. [ABSTRACT FROM AUTHOR]

Background: Individual ultrasound (US) features have limited ability to distinguish benign from malignant thyroid nodules. Adult-based systems have been developed to integrate the sonographic features in an effort to improve diagnostic accuracy. None, however, has been validated in children, in whom the likelihood of malignancy is 2-5 times higher than adults.Objective: To assess the performance of two adult-based sonographic (US) stratification methods for assessment of thyroid nodules in children.Materials and Methods: This retrospective study comprised 124 children who underwent thyroid US. Three radiologists reviewed the US data using the American Thyroid Association (ATA) and the Thyroid Image Reporting and Data System (TI-RADS). Radiologists' accuracy and agreement was assessed. The reference standard was histopathology/cytology or 2-year follow-up of clinical outcome for nonoperative cases.Results: We assessed 71 benign and 52 malignant nodules and excluded 1 nodule. Using the ATA pattern descriptions, 80% of malignant nodules were classified as "high" 36/52 (69%) or "intermediate" 6/52 (11%) likelihood of malignancy. A total of 20/71 (28%) benign nodules were also classified within these two categories. Using the TI-RADS, malignant nodules were classified as 2, 3, 4a, 4b, 4c and 5, with rate of malignancy of 0%, 0%, 7/52 (13.5%), 7/52 (13.5%), 32/52 (61.5%) and 6/52 (11.5%), respectively. Benign nodules were also classified in the 4a (26/71; 36.6%), 4b (17/71; 24%), 4c (14/71; 19.7%) and 5 (1/71; 1.4%) categories. The positive and negative predictive values were 68.0% and 87.5% for ATA, and 71.7% and 80.0% for TI-RADS.Conclusion: We validated the use of ATA and TI-RADS methods in children and showed that they have test characteristics similar to those in adults, although neither is independently sufficient to discriminate nodules' likelihood of malignancy. [ABSTRACT FROM AUTHOR]

The petrous apex (PA) is involved in a myriad of pathological conditions, some of which are exclusive in children. Diagnosis may be difficult due to vague clinical presentation, and local examination is challenging owing to its inaccessible location. This is further complicated by multiple unfused sutures and ongoing PA pneumatization in children. Cross-sectional imaging is vital for the evaluation of the PA lesions, due to their precarious location and proximity to the major neurovascular structures. Several classification systems have been proposed for these lesions based on their site of origin, solid or cystic appearance, surgical or non-surgical (no touch lesions) management, and benign or malignant nature. In this article, we emphasize the distinctive role of different cross-sectional imaging modalities in the diagnosis of pediatric PA lesions, with special attention to normal variants that should not be mistaken for pathology. We also propose a radiological classification and algorithmic approach to aid in the precise diagnosis and facilitate appropriate management of the various PA lesions in children. [ABSTRACT FROM AUTHOR]

The need for urgent or emergent cardiovascular imaging in children is rare when compared to adults. Patients may present from the neonatal period up to adolescence, and may require imaging for both traumatic and non-traumatic causes. In children, coronary pathology is rarely the cause of an emergency unlike in adults where it is the main cause. Radiology, including chest radiography and computed tomography in conjunction with echocardiography, often plays the most important role in the acute management of these patients. Magnetic resonance imaging can occasionally be useful and may be suitable in more subacute cases. Radiologists’ knowledge of how to manage and interpret these acute conditions including knowing which imaging technique to use is fundamental to appropriate care. In this review, we will concentrate on the most common cardiovascular emergencies in the thoracic region, including thoracic traumatic and non-traumatic emergencies and pulmonary vascular emergencies, as well as acute clinical disorders as a consequence of primary and postoperative congenital heart disease. This review will cover situations where cardiovascular imaging may be acutely needed, and not strictly emergencies only. Imaging recommendations will be discussed according to the different clinical presentations and underlying pathology.Graphical Abstract: The need for urgent or emergent cardiovascular imaging in children is rare when compared to adults. Patients may present from the neonatal period up to adolescence, and may require imaging for both traumatic and non-traumatic causes. In children, coronary pathology is rarely the cause of an emergency unlike in adults where it is the main cause. Radiology, including chest radiography and computed tomography in conjunction with echocardiography, often plays the most important role in the acute management of these patients. Magnetic resonance imaging can occasionally be useful and may be suitable in more subacute cases. Radiologists’ knowledge of how to manage and interpret these acute conditions including knowing which imaging technique to use is fundamental to appropriate care. In this review, we will concentrate on the most common cardiovascular emergencies in the thoracic region, including thoracic traumatic and non-traumatic emergencies and pulmonary vascular emergencies, as well as acute clinical disorders as a consequence of primary and postoperative congenital heart disease. This review will cover situations where cardiovascular imaging may be acutely needed, and not strictly emergencies only. Imaging recommendations will be discussed according to the different clinical presentations and underlying pathology. [ABSTRACT FROM AUTHOR]

Background: The Kwak Thyroid Imaging Reporting and Data System (Kwak-TI-RADS) guideline (2011) and American College of Radiology Thyroid Imaging Reporting and Data System (ACR TI-RADS) guideline (2017) were developed as ultrasound (US) risk stratification tools for detecting thyroid malignancy in adults.Objective: The purpose of this study was to investigate the inter-rater reliability and diagnostic performance of the ACR TI-RADS guideline in the pediatric population and compare it to the Kwak guideline.Materials and Methods: This retrospective study comprised 75 children who underwent thyroid US at a tertiary-level pediatric hospital. Three pediatric radiologists and one pediatric radiology fellow graded the US findings using the Kwak-TI-RADS and ACR TI-RADS guidelines. We assessed reliability of radiologists' ratings using percentage inter-rater agreement, and intra-class correlation coefficients (ICC2,1). We assessed area-under-the-receiver-operating-characteristic curve (AUROCC) to compare the discriminative diagnostic ability of the Kwak-TI-RADS and ACR TI-RADS scoring systems against histopathology/cytology, or stability on US over a 2-year follow-up period for cases without tissue diagnosis.Results: The inter-rater agreement was significantly better for the ACR TI-RADS level compared to the Kwak-TI-RADS level (P<0.001) using the percentage pairwise agreement. The ROC curves for assessing the diagnostic performance of the two methods showed no significant difference between the methods. The AUROCCs for the Kwak-TI-RADS and ACR TI-RADS levels were 0.74 (95% confidence interval [CI] 0.67-0.82) and 0.72 (95% CI 0.61-0.82), respectively.Conclusion: Both the Kwak-TI-RADS and ACR TI-RADS guidelines provide moderate malignancy risk stratification for thyroid nodules in the pediatric population, with better inter-rater agreement for the ACR TI-RADS guideline. Further work to adjust the recommendations for pediatric patients is necessary. [ABSTRACT FROM AUTHOR]

Objectives To evaluate the benefits and clinical significance of retrospectively generated spectral image-datasets with the novel detector-based Spectral CT (SDCT). Methods A total of 118 body CTs from the SDCT prototype were included. Based on the clinical indication, two radiologists were asked if they would have opted for a dual-energy mode/scan if the patient was scanned in one of the other commercially-available dual-energy scanners, which need prospective selection of dual energy mode. They also reviewed the scans, identified cases that would benefit from spectral images and evaluated these images for clinical utility and significance on a five-point scale, with 1 being the least and 5 being the highest. Results Dual-energy mode would have been prospectively selected in 20 cases (17%) for Reader 1 and 25 cases (21%) for Reader 2. Additional spectral images were requested for 94 cases (80%) and 96 cases (81%) respectively. A total of 196 and 206 spectral image-sets were utilized respectively with 97% and 96% of these image-sets useful retrospectively. The distribution of scores on the five-point scale for Readers 1 and 2 were, 1 –7% & 6%; 2 –26% & 30%; 3 –36% & 36%; 4 –27% & 21% and; 5 –4% & 7%. Clinically significant score (≥ 4) was noted in 31% and 28% respectively. Conclusions Additional spectral datasets retrospectively reconstructed from SDCT enhanced the diagnostic capabilities by reducing artifacts, improving contrast and allowing lesion characterization. [ABSTRACT FROM AUTHOR]