Pediatric focal calvarial lesions: an illustrated review.

Focal skull lesions in children can be diagnostically challenging with a wide variety of potential etiologies. Understanding the diverse pathologies and recognizing their associated clinical and imaging characteristics is crucial for accurate diagnosis and appropriate treatment planning. We review pertinent anatomy of the scalp and calvarium and review different pathologies that can present with focal skull lesions in pediatric patients. These include neoplastic, non-neoplastic tumor-like, congenital, post traumatic, and vascular-associated etiologies. We review the key clinical and imaging features associated with these pathologies and present teaching points to help make the correct diagnosis. It is important for radiologists to be aware of the common and rare etiologies of skull lesions as well as the clinical and imaging characteristics which can be used to develop an accurate differential to ensure a timely diagnosis and initiate appropriate management.

Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report.

Von Hippel Lindau(VHL)syndrome presents with cerebellar and spinal hemangioblastomas, renal cell cancer, neuroendocrine pancreatic tumor, and pheochromocytoma and it is caused by germline mutations in the VHL gene. Pathogenic germline variants in the succinate dehydrogenase A (SDHA) gene are associated with paraganglioma and pheochromocytoma. Here we report co-occurrence of germline pathogenic variants in both VHL and SDHA genes in a patient who presented with pancreatic neuroendocrine tumor. As these genes converge on the pseudo-hypoxia signaling pathway, further studies are warranted to determine the significance of co-occurrence of these variants in relation to tumor penetrance, disease severity, treatment response and clinical outcomes in this selected group of patients.

Not all benign: disease course, complications, and sequalae of chronic recurrent multifocal osteomyelitis in children.

PURPOSE OF REVIEW: Advances in pathogenesis of chronic recurrent multifocal osteomyelitis in children (CRMO) have shaped therapeutic strategies. The use of whole-body MRI (WBMRI) and improved awareness of CRMO has increased rates and timeliness of CRMO diagnoses. In this review, we highlight the findings from recently published CRMO cohorts and describe the course, complications, and long-term sequalae of CRMO. It is important for clinicians to be aware of the potential for long-term sequelae in order to optimize therapy and avoid complications. RECENT FINDINGS: Despite recent advances in defining disease pathogenesis, children with CRMO continue to suffer from complications and deformities. Involvement of the spine can be asymptomatic and is not as rare as previously suggested. This can result in damaging outcomes, such as vertebral fractures and permanent deformities. A subset of patients has polycyclic disease course and some continue to have active disease for years and well into adulthood, with significant impacts on quality of life. SUMMARY: These recent findings have considerable implication on clinical practice regarding diagnosis, treatment, and monitoring of the disease. Collectively, they support the need for continued monitoring of the disease and screening using comprehensive imaging, such as WBMRI.

Development of a Scoring Tool for Chronic Nonbacterial Osteomyelitis Magnetic Resonance Imaging and Evaluation of its Interrater Reliability.

OBJECTIVE: Serial magnetic resonance imaging (MRI) examinations are often needed in chronic nonbacterial osteomyelitis (CNO) to determine the objective response to treatment. Our objectives in this study were (1) to develop a consensus-based MRI scoring tool for clinical and research use in CNO; and (2) to evaluate interrater reliability and agreement using whole-body (WB)-MRI from children with CNO. METHODS: Eleven pediatric radiologists discussed definitions and grading of signal intensity, size of signal abnormality within bone marrow, and associated features on MRI through monthly conference calls and a consensus meeting, using a nominal group technique in July 2017. WB-MRI scans from children with CNO were deidentified for training reading and an interrater reliability study. The reading by each radiologist was conducted in a randomized order. Interrater reliability for abnormal signal and severity were assessed using free-marginal κ statistics. RESULTS: Radiologists reached a consensus on grading CNO-specific MRI findings and on describing bone units based on anatomy. A total of 45 sets of WB-MRI scans, including 4 sets of non-CNO MRI examinations, were selected for the final reading. The mean κ of each category of bones was > 0.7 with majority > 0.9 demonstrating substantial/almost perfect interrater reliability of readings among radiologists. The agreement on signal intensity and the size of signal abnormality within the most commonly affected bones (femur and tibia) were lower than those of other bones. CONCLUSION: The chronic nonbacterial osteomyelitis magnetic resonance imaging scoring (CROMRIS) tool is a comprehensive standardized scoring tool for MRI in children with CNO. Our interrater study demonstrated good interrater reliability and agreement of readings.

Neurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities.

The neural crest is an important transient structure that develops during embryogenesis in vertebrates. Neural crest cells are multipotent progenitor cells that migrate and develop into a diverse range of cells and tissues throughout the body. Although neural crest cells originate from the ectoderm, they can differentiate into mesodermal-type or endodermal-type cells and tissues. Some of these tissues include the peripheral, autonomic, and enteric nervous systems; chromaffin cells of the adrenal medulla; smooth muscles of the intracranial blood vessels; melanocytes of the skin; cartilage and bones of the face; and parafollicular cells of the thyroid gland. Neurocristopathies are a group of diseases caused by the abnormal generation, migration, or differentiation of neural crest cells. They often involve multiple organ systems in a single person, are often familial, and can be associated with the development of neoplasms. As understanding of the neural crest has advanced, many seemingly disparate diseases, such Treacher Collins syndrome, 22q11.2 deletion syndrome, Hirschsprung disease, neuroblastoma, neurocutaneous melanocytosis, and neurofibromatosis, have come to be recognized as neurocristopathies. Neurocristopathies can be divided into three main categories: dysgenetic malformations, neoplasms, and combined dysgenetic and neoplastic syndromes. In this article, neural crest development, as well as several associated dysgenetic, neoplastic, and combined neurocristopathies, are reviewed. Neurocristopathies often have clinical manifestations in multiple organ systems, and radiologists are positioned to have significant roles in the initial diagnosis of these disorders, evaluation of subclinical associated lesions, creation of treatment plans, and patient follow-up. Online supplemental material is available for this article. ©RSNA, 2019.

Ectopic primary olfactory neuroblastoma of the nasopharynx: A case report and review of the literature.

Olfactory neuroblastoma (ONB, also called esthesioneuroblastoma) is a rare malignant tumor of neuroectodermal olfactory cells. We report a case of an undifferentiated ONB with unfavorable histology arising ectopically in the nasopharynx. The patient was a 15-year-old male who presented with a right-sided painful neck mass, nasal obstruction, and weight loss. Awareness of the ectopic ONBs, although exceedingly rare, is important when considering differential diagnoses of sinonasal tumors as treatment and prognosis may differ from other lesions.

Pediatric idiopathic retroperitoneal fibrosis.

Retroperitoneal fibrosis (RPF) is a very rare disease that is even more rare in the pediatric population. Even less common are idiopathic pediatric cases of retroperitoneal fibrosis, with a majority of reported pediatric retroperitoneal fibrosis cases being associated with secondary etiologies. We present an 11-year-old Caucasian female that was diagnosed with idiopathic retroperitoneal fibrosis using magnetic resonance imaging (MRI) to work-up severe bilateral hydronephrosis that was identified with retroperitoneal ultrasound. Given the uncommon nature of this serious condition, we present this case to illustrate the importance for physicians to include retroperitoneal fibrosis in the differential diagnosis of a pediatric patient presenting with obstructive urinary findings and understand the utility of using MRI to diagnosis and monitor this disease.

Stump Appendicitis.

Abdominal pain is a frequent problem encountered in the emergency department, and acute appendicitis is a well-recognized diagnosis. Laparoscopic appendectomy has become one of the most common surgical procedures in the United States. Patients with a history of appendectomy may experience recurrent right lower quadrant abdominal pain from an infrequently encountered complication that may occur when the residual appendix becomes obstructed and inflamed. We describe two cases of stump appendicitis in pediatric patients with a review of clinical and imaging findings and surgical management.

Multimodality Imaging Spectrum of the Extranodal Lymphomas in the Head and Neck-A Pictorial Review.

Lymphoma is the second most common malignant neoplasm of the head and neck region, involving the nodal and/or extranodal sites or both in a variable fashion. Lymphoma may mimic a variety of tumors in this region depending on the subsite involved. The usual presentation of lymphomatous disease is presence of multiple enlarged, often conglomerate, lymph nodes without significant necrosis. Extranodal lymphomas demonstrate more complex radiologic features, but careful evaluation can identify distinct imaging patterns to suggest extranodal lymphomatous disease from other more common lesions. Knowledge of these imaging features can help raise suspicion for lymphoma as a differential consideration. This can be of critical importance since further work-up and management can be vastly different between lymphomatous disease and other disease entities. The authors present a pictorial review of the spectrum of imaging findings in extranodal head and neck lymphomas.

IgG4-related disease in an adolescent with radiologic-pathologic correlation.

Immunoglobulin G4-related disease (IgG4RD) is an immune-mediated condition characterized by lymphoplasmacytic infiltrates and fibrosis of affected organs. IgG4RD may affect many different organs either individually or together in a multiorgan condition and, thus, incorporates a wide range of fibroinflammatory phenotypes with shared pathologic features. Although IgG4RD most commonly occurs in late adulthood, it may affect children and adolescents. Only one case of IgG4RD presenting as isolated submandibular gland involvement has been reported in the pediatric population. Radiographic features of IgG4RD are often nonspecific making diagnosis challenging, but it is important for radiologists to be familiar with this diseased as its inclusion the differential for diffuse salivary enlargement may be the first step in making an accurate diagnosis. Here, we report a case of a child presenting with bilateral submandibular gland swelling to increase awareness of this condition in the pediatric population. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Image Sharing in Radiology-A Primer.

By virtue of its information technology-oriented infrastructure, the specialty of radiology is uniquely positioned to be at the forefront of efforts to promote data sharing across the healthcare enterprise, including particularly image sharing. The potential benefits of image sharing for clinical, research, and educational applications in radiology are immense. In this work, our group-the Association of University Radiologists (AUR) Radiology Research Alliance Task Force on Image Sharing-reviews the benefits of implementing image sharing capability, introduces current image sharing platforms and details their unique requirements, and presents emerging platforms that may see greater adoption in the future. By understanding this complex ecosystem of image sharing solutions, radiologists can become important advocates for the successful implementation of these powerful image sharing resources.

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment. We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance. We map the ectopia lentis locus in this family to the pericentromeric region on chromosome 1 (1p13.2-q21.1). The linkage region contains well more than 60 genes. Mutation screening of four candidate genes revealed a homozygous nonsense mutation in exon 11 of ADAMTSL4 (p.Y595X; c.1785T-->G) in all affected individuals that is absent in 380 control chromosomes. The mutation would result in a truncated protein of half the original length, if the mRNA escapes nonsense-mediated decay. We conclude that mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and that ADAMTS-like4 plays a role in the development and/or integrity of the zonular fibers.