Malignant Rhabdoid Tumor and Related Pediatric Tumors: Multimodality Imaging Review with Pathologic Correlation.

Malignant rhabdoid tumors (MRTs) are rare but lethal solid neoplasms that overwhelmingly affect infants and young children. While the central nervous system is the most common site of occurrence, tumors can develop at other sites, including the kidneys and soft tissues throughout the body. The anatomic site of involvement dictates tumor nomenclature and nosology. While the clinical and imaging manifestations of MRTs and other more common entities may overlap, there are some site-specific distinctive imaging characteristics. Irrespective of the site of occurrence, somatic and germline mutations in SMARCB1, and rarely in SMARCA4, underlie the entire spectrum of rhabdoid tumors. MRTs have a simple and remarkably stable genome but can demonstrate considerable molecular and biologic heterogeneity. Related neoplasms encompass an expanding category of phenotypically dissimilar (nonrhabdoid tumors driven by SMARC-related alterations) entities. US, CT, MRI, and fluorodeoxyglucose PET/CT or PET/MRI facilitate diagnosis, initial staging, and follow-up, thus informing therapeutic decision making. Multifocal synchronous or metachronous rhabdoid tumors occur predominantly in the context of underlying rhabdoid tumor predisposition syndromes (RTPSs). These autosomal dominant disorders are driven in most cases by pathogenic variants in SMARCB1 (RTPS type 1) and rarely by pathogenic variants in SMARCA4 (RTPS type 2). Genetic testing and counseling are imperative in RTPS. Guidelines for imaging surveillance in cases of RTPS are based on age at diagnosis. ©RSNA, 2024 Supplemental material is available for this article.

Biliary Disorders, Anomalies, and Malignancies in Children.

Biliary abnormalities in children are uncommon, and the spectrum of biliary disorders is broader than in adult patients. Unlike in adults, biliary disorders in children are rarely neoplastic and are more commonly rhabdomyosarcoma rather than cholangiocarcinoma. Pediatric biliary disorders may be embryologic or congenital, such as anatomic gallbladder anomalies, anomalous pancreaticobiliary tracts, various cholestatic processes, congenital cystic lesions, or genetic conditions. They may also be benign, such as biliary filling anomalies, biliary motility disorders, and biliary inflammatory and infectious disorders. Distinguishing these entities with a single imaging modality is challenging. US is the primary imaging modality for initial evaluation of biliary abnormalities in children, due to its wide availability, lack of ionizing radiation, and low cost and because it requires no sedation. Other examinations such as MRI, CT, and nuclear medicine examinations may provide anatomic and functional information to narrow the diagnosis further. Hepatobiliary-specific contrast material with MRI can provide better assessment of biliary anatomy on delayed images than can traditional MRI contrast material. MR cholangiopancreatography (MRCP) allows visualization of the intra- and extrahepatic biliary ducts, which may not be possible with endoscopic retrograde cholangiopancreatography (ERCP). Suspected biliary atresia requires multiple modalities for diagnosis and timely treatment. Determining the type of choledochal cyst calls for a combination of initial US and MRCP. Many benign and malignant biliary masses require biopsy for definitive diagnosis. Knowledge of the imaging appearances of different pediatric biliary abnormalities is necessary for appropriate imaging workup, providing a diagnosis or differential diagnosis, and guiding appropriate management. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material.

Acutely presenting congenital chest lesions: a primer for the radiologist.

Congenital chest lesions encompass several important entities. Without prompt intervention, many of these can culminate in serious complications. Timely and accurate radiologic interpretation of these entities is integral to patient management. Imaging can help characterize and prognosticate several of these entities, and may both suggest the need for and guide therapy. We overview the clinical presentation, associated complications, imaging characteristics, and prognostic indicators-both postnatal and antenatal-of the spectrum of emergently presenting congenital chest lesions. We also outline current and evolving management strategies, whether fetal, peripartum, or postnatal. The ultimate goal is to help radiologists formulate timely and effective diagnoses of these entities and boost the relevance of their input towards clinical decision-making.

CT Findings of Pediatric Handlebar Injuries.

Direct bicycle handlebar injuries are a significant cause of chest and abdominal trauma and morbidity in the pediatric population. However, these injuries have been underemphasized. While blunt abdominal trauma has been described well, the literature is limited in reviewing trauma imaging specifically related to direct handlebar injuries in the pediatric population. Major chest injuries include lung contusions, pneumatoceles, and pneumothorax. In the abdomen, injuries to the pancreas, small bowel, mesentery, liver, and spleen are the more common abdominal injuries attributed to direct handlebar trauma. Traumatic abdominal wall hernias and groin injuries, which may be associated with vascular injuries, are other known injuries. The challenge is in both clinical and radiographic diagnosis. The physical findings are often underwhelming, and laboratory values in many studies are shown to be not very sensitive or specific. As a result, there is a risk of delay in imaging, diagnosis, and treatment of significant and sometimes life-threatening injuries. CT is considered the standard examination to delineate intra-abdominal trauma, with a reported sensitivity of 60%-88% and a specificity of 97%-99%. Moreover, CT helps in grading some types of injury and helps guide the surgical treatment course. It is important for radiologists who perform imaging in adults and children to be aware of the significance of direct handlebar injuries and their imaging findings. ©RSNA, 2020.

Magnetic resonance imaging of the pediatric mediastinum.

The mediastinum, the central anatomical space of the thorax, is divided by anatomical landmarks but not by physical boundaries. The mediastinum is a conduit, a space through which cranial nerves, important nerve branches, the sympathetic chain, vascular structures, and visceral structures, the trachea and esophagus pass. This arrangement allows contiguous extension or communication of disease along facial planes and through potential spaces to and from the head and neck or cervical spine, to and from the superior mediastinum, between superior and inferior mediastinal levels, and between inferior mediastinal spaces into the intra- and retroperitoneal spaces. Magnetic resonance imaging (MRI) of the mediastinum in children poses technical challenges, in particular cardiac and respiratory motion, and diagnostic challenges, including a broad range of tissue types and possible diagnoses. In this paper we review mediastinal anatomy, MRI sequences and protocol choices and include a short discussion of features and MRI findings of some of the congenital and acquired pathologies that are most often encountered in the pediatric mediastinum.

Imaging of pediatric renal transplants and their complications: a pictorial review.

Renal transplantation is the treatment of choice for end-stage renal disease in children. As a technically demanding surgery with complex medical management, it is associated with a number of complications. Anatomic imaging including ultrasonography with color and spectral Doppler and functional assessment with renal perfusion scintigraphy are complementary for the detection and characterization of posttransplant complications. Complications can be characterized by the time of appearance after transplantation (immediate, early, or late) or the anatomic site of origin (perinephric, vascular, urologic, or renal parenchymal). Perinephric fluid collections include hematomas and seromas, abscesses, lymphoceles, and urinomas. Noninfected collections frequently resolve spontaneously but should be monitored to exclude progression. Vascular complications are more prevalent in pediatric patients because of the small vessel caliber and include vascular thrombosis and stenosis. Arteriovenous fistulas and pseudoaneurysms can complicate biopsy and are typically transient. Common urologic complications include urine leak and urinary tract obstruction. Renal perfusion scintigraphy can be invaluable in elucidating the nature of such complications. Renal parenchymal abnormalities include acute tubular necrosis, rejection, and toxic effects of medication. Imaging features of renal parenchymal abnormalities can overlap, and the primary role of imaging is to exclude alternative causes of renal dysfunction. Renal and nonrenal mass lesions are more common in immunosuppressed patients after transplantation. Familiarity with the normal imaging appearance of the renal allograft and the appearances of common complications facilitates accurate diagnosis and timely treatment, with the ultimate goal of increasing graft survival. This goal is particularly crucial in children, given their greater number of projected life years.

FDG PET of the brain in pediatric patients: imaging spectrum with MR imaging correlation.

Positron emission tomography (PET) of the brain is an important problem-solving tool in pediatric neuroimaging, neurology, and neurosurgery. Fluorine 18 fluorodeoxyglucose (FDG) PET or dual-modality PET and computed tomographic (CT) imaging (PET/CT), with magnetic resonance (MR) imaging correlation, can be used to evaluate childhood epilepsy and pediatric brain tumors, areas in which PET adds value in patient management. FDG PET has been widely used in pediatric temporal lobe epilepsy, most commonly manifesting as mesial temporal sclerosis, which demonstrates hypometabolism at interictal PET and hypermetabolism during seizures. Recently, FDG PET has shown added value for patients with extratemporal epilepsy, in whom FDG PET can help identify cortical foci of interictal hypometabolism that are undetectable or difficult to detect with MR imaging. These findings can then guide additional investigations and surgery. FDG PET also enhances medical decision making in children with brain tumors, in whom FDG PET can be used to (a) improve the diagnostic yield of stereotactic biopsies by detecting metabolically active areas of tumor, (b) help guide the surgeon in achieving total tumor resection, and (c) increase detection of residual or recurrent tumor. Technologic advances in the past decade have allowed fusion of PET and MR images, combining the high resolution of MR imaging with the low-resolution functional capability of PET. As dual-modality integrated PET/MR imaging systems become available, CT coregistration for PET can be eliminated, thus reducing patient radiation exposure. Increasing familiarity with normal and abnormal appearances of FDG PET brain images correlated with MR images can enhance diagnostic yield and improve the care of children with epilepsy and brain tumors.

Calcifying nested stromal-epithelial tumor of the liver: Case report of a rare primary liver tumor.

Calcifying nested stromal epithelial tumor is a very rare primary liver tumor in children. To our knowledge, few cases have been reported in literature. We describe the imaging appearance and histopathologic features of this tumor incidentally detected in a 2-year-old girl. This tumor should be considered in the differential when a large heterogeneous liver tumor with central scar and coarse/chunky calcifications is identified at imaging in the absence of elevated alpha-fetoprotein in a child.

Congenital lung abnormalities: embryologic features, prenatal diagnosis, and postnatal radiologic-pathologic correlation.

Congenital lung abnormalities are being detected more frequently at routine high-resolution prenatal ultrasonography. The most commonly encountered anomalies include lung agenesis-hypoplasia complex (pulmonary underdevelopment), congenital pulmonary airway malformations, congenital lobar overinflation, bronchial atresia, bronchogenic cysts, congenital high airway obstruction syndrome, scimitar syndrome, and bronchopulmonary sequestration. Recognizing the antenatal and postnatal imaging features of these abnormalities is necessary for optimal prenatal counseling and appropriate peri- and postnatal management. Supplemental material available at http://radiographics.rsna.org/lookup/suppl/doi:10.1148/rg.306105508/-/DC1.

Gastric Gastrointestinal Stromal Tumor Incidentally Detected With Meckel Scintigraphy.

A 17-year-old boy presented with fatigue, hypoxia, palpitations, and anemia (hemoglobin 3.5 g/dL). The search for the etiology of the bleeding began with a Meckel scan. A photopenic region in the gastric body and a region of abnormal tracer uptake in the right midabdomen were unexpected findings. Further investigation with ultrasound and computed tomography revealed a gastric mass, which proved to be a gastrointestinal stromal tumor at pathology. The right-sided tracer uptake resulted from stasis in the collecting system of a malpositioned right kidney, a cause of false uptake in a Meckel scan.

Antenatal diagnosis of intestinal malrotation on fetal MRI.

We report a case of intestinal malrotation without any associated GI tract complications diagnosed antenatally by fetal MRI. Antenatal US revealed a midline stomach. Subsequent fetal MRI confirmed the midline stomach and, in addition, revealed all loops of small bowel to the right of the midline and all large bowel to the left. All these features were consistent with intestinal malrotation. There was no abnormal bowel wall thickening, bowel dilatation, ascites or polyhydramnios. To our knowledge, this is a unique case of intestinal malrotation without associated GI tract complications diagnosed antenatally on fetal MRI.

Fetal genitourinary anomalies--a pictorial review with postnatal correlation.

An accurate diagnosis of fetal genitourinary abnormality is essential because some genitourinary abnormalities are associated with pulmonary hypoplasia, which ultimately affects the neonatal outcome. Adrenal masses are rare; however, presence of any lesion located at the superior pole of the kidney should raise the possibility of an adrenal mass. Fetal genital anomalies are rare as well and some of the most difficult to diagnose. A combination and pattern of findings allows for specific diagnosis of renal tract abnormalities. This article reviews the imaging appearance of fetal genitourinary abnormalities with perinatal imaging correlation where available.