Genomic profiling informs diagnoses and treatment in vascular anomalies.

Vascular anomalies are malformations or tumors of the blood or lymphatic vasculature and can be life-threatening. Although molecularly targeted therapies can be life-saving, identification of the molecular etiology is often impeded by lack of accessibility to affected tissue samples, mosaicism or insufficient sequencing depth. In a cohort of 356 participants with vascular anomalies, including 104 with primary complex lymphatic anomalies (pCLAs), DNA from CD31+ cells isolated from lymphatic fluid or cell-free DNA from lymphatic fluid or plasma underwent ultra-deep sequencing thereby uncovering pathogenic somatic variants down to a variant allele fraction of 0.15%. A molecular diagnosis, including previously undescribed genetic causes, was obtained in 41% of participants with pCLAs and 72% of participants with other vascular malformations, leading to a new medical therapy for 63% (43/69) of participants and resulting in improvement in 63% (35/55) of participants on therapy. Taken together, these data support the development of liquid biopsy-based diagnostic techniques to identify previously undescribed genotype-phenotype associations and guide medical therapy in individuals with vascular anomalies.

Imaging of pediatric extragonadal pelvic soft tissue tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee White Paper.

The most common pediatric extragonadal pelvic cancers include germ cell tumors, sacrococcygeal teratomas, and rhabdomyosarcomas (arising from the urinary bladder, prostate, paratesticular tissues, vagina, uterus, and perineum). This paper describes the radiological and nuclear medicine features of these entities and provides consensus-based recommendations for the assessment at diagnosis, during, and after treatment.

Radiation in Pediatric Imaging: A Primer for Pediatricians.

Medical imaging in children makes up a considerable percentage of all imaging procedures performed in the United States. Although in recent years there has been a 15% to 20% reduction in the exposure to ionizing radiation from medical imaging in the US population, the total number of computed tomography (CT) scans has increased from 2006 to 2016, and about 85% of all medical ionizing radiation in children is due to CT. [Pediatr Ann. 2020;49(9):e370-e373.].

Whole-Body PET/MRI Applications in Pediatric Oncology.

OBJECTIVE. Fluorine-18-labeled FDG PET/CT and MRI are current imaging standards for staging and assessing tumor response and recurrence of pediatric extracranial solid tumors. PET/MRI combines anatomic and physiologic imaging in a single session with reduced radiation compared with CT. Pediatric protocols are primarily whole-body protocols because of the behavior and type of cancers unique to children. This article will focus on the practice and utility of whole-body PET/MRI for pediatric oncologic imaging. CONCLUSION. The strengths of PET/MRI over PET/CT are compelling and include decreased radiation exposure, decreased number of sedation and general anesthesia events, single-day one-stop visits, and simultaneous imaging with two stand-alone advanced imaging techniques essential to staging and assessing treatment response in pediatric oncology.

Diagnostic performance and role of the contrast enema for low intestinal obstruction in neonates.

PURPOSE: We aim to evaluate the diagnostic performance and relationship between clinical characteristics, imaging findings, and final diagnosis for the neonatal contrast enema (CE). METHODS: Retrospective 10-year review of all neonatal CEs including imaging findings, clinical information, indication, and final diagnosis from discharge summaries, surgical reports, and pathology (reference standard). Two blinded pediatric radiologists reinterpreted 366 CEs for obstruction, microcolon, rectosigmoid index (RSI), serrations, meconium, ileal cut-off, transition zone, diagnosis, and level of confidence. CE diagnostic performance was calculated versus reference standard. RESULTS: Diagnoses included Hirschsprung disease (HD) (15.8%), small left colon syndrome (14.8%), small intestinal atresia/colonic atresia (SIA/CA) (12.6%), meconium ileus (MI) (4.4%), and normal (48.9%). CE had a moderate specificity (87.7%) and low sensitivity (65.5%) for HD; abnormal RSI and serrations showed high specificities (90.3%, 97.4%) but low sensitivities (46.6%, 17.2%). CE showed high specificity (97.4%) and low sensitivity (56.3%) for MI blinded to cystic fibrosis status. Microcolon was specific (96.6%) but not sensitive (68.8%) for MI. CE showed highest PPV (73.1%) (specificity 95.6%, sensitivity 82.6%) for SIA/CA. Microcolon with an abrupt cut-off was specific (99.1%) but not sensitive (41.3%) for atresias. CONCLUSION: Neonatal CE demonstrates high specificities and low to moderate sensitivities across all diagnoses, with lowest performance in HD. CLINICAL TRIAL REGISTRATION: None.

Imaging surveillance for children with predisposition to renal tumors.

Effective surveillance is necessary for early detection of tumors in children with cancer predisposition syndromes. Instituting a surveillance regimen in children comes with practical challenges that include determining imaging modality and timing, and considering cost efficiency, accessibility, and the significant consequences of false-positive and false-negative results. To address these challenges, the American Association for Cancer Research has recently published consensus recommendations that focus on surveillance of cancer predisposition syndromes in children. This review condenses the imaging surveillance recommendations for syndromes that carry a predisposition to renal tumors in childhood, and includes summaries of the predisposition syndromes and discussion of considerations of available imaging modalities.

Whole-body magnetic resonance imaging of pediatric cancer predisposition syndromes: special considerations, challenges and perspective.

Cancer predisposition syndromes increase the incidence of tumors during childhood and are associated with significant morbidity and mortality. Imaging is paramount for ensuring early detection of neoplasms, impacting therapeutic interventions and potentially improving outcome. While conventional imaging techniques involve considerable exposure to ionizing radiation, whole-body MRI is a radiation-free modality that allows continuous imaging of the entire body and has increasingly gained relevance in the surveillance, diagnosis, staging and monitoring of pediatric patients with cancer predisposition syndromes. Nevertheless, widespread implementation of whole-body MRI faces several challenges as a screening tool. Some of these challenges include developing clinical indications, variability in protocol specifications, image interpretation as well as coding and billing practices. These factors impact disease management, patient and family experience and research collaborations. In this discussion we review the aforementioned special considerations and the potential direction that might help overcome these challenges and promote more widespread use of whole-body MRI in children with cancer predisposition syndromes.

Progressive pseudorheumatoid dysplasia: a report of three cases and a review of radiographic and magnetic resonance imaging findings.

Progressive pseudorheumatoid dysplasia (PPD) is a rare disorder of postnatal skeletal and cartilage development that often presents with similar clinical findings to juvenile idiopathic arthritis. Patients with PPD display findings of progressive cartilage loss and secondary osteoarthritis over serial imaging studies and have an absence of elevation of inflammatory markers. Awareness of the imaging features of PPD on radiographs and magnetic resonance imaging (MRI) may be important for early diagnosis and surveillance of the disease.

MRI of the bowel - beyond inflammatory bowel disease.

MR enterography is traditionally used to evaluate inflammatory bowel disease (IBD) both at initial presentation and at follow-up. MR enterography can also be used to evaluate non-IBD conditions such as polyps or other masses of the gastrointestinal tract. In this article, we emphasize how to recognize bowel conditions beyond IBD on conventional abdominal MRI without a specific enterographic technique. In this overview we discuss common and uncommon pediatric bowel conditions beyond IBD seen on MRI including infectious and inflammatory conditions, congenital diseases and tumor and tumor-like conditions. Radiologists should become familiar with the salient imaging features of these bowel conditions to help guide management.

Contrast-enhanced voiding urosonography (ceVUS) with the intravesical administration of the ultrasound contrast agent Optison™ for vesicoureteral reflux detection in children: a prospective clinical trial.

BACKGROUND: Contrast-enhanced voiding urosonography (ceVUS) is widely used outside the United States to diagnose vesicoureteral reflux (VUR) in children and is highly sensitive while avoiding exposure to ionizing radiation. At the onset of this study, two ultrasound (US) contrast agents were available in the United States. Pediatric safety data for intravenous administration was published for one, Optison™. OBJECTIVE: This study aimed to evaluate the diagnostic performance and safety of ceVUS using Optison™ and compare its diagnostic efficacy with voiding cystourethrogram (VCUG) for VUR detection and grading in children. MATERIALS AND METHODS: The United States Food and Drug Administration and institutional Investigational New Drug authorizations were obtained to conduct a prospective comparative study of ceVUS with Optison™ and VCUG. CeVUS was performed with intravesical administration of 0.2% Optison™/normal saline solution. A standard VCUG followed. Safety assessment included physical examination, and heart rate, pulse oximetry and adverse reactions monitoring before, during and immediately after the examinations. A follow-up questionnaire was completed by telephone 48-h after the studies. RESULTS: Sixty-two pelviureteric units were studied in 30 patients with a mean age of 3.5 years (range: 0.1-17 years) including 21 girls and 9 boys. No severe adverse events occurred. All patients had normal heart rate and blood oxygenation saturation prior to, during and after the studies. At the 48-h follow-up, one patient (3.3%) reported transient dysuria. Taking the VCUG as the reference standard, ceVUS had a sensitivity of 91.7% (95%; confidence interval [CI]: 61.5%-99.8%) and specificity of 98% (95%; CI: 89.4%-99.9%). The concordance between ceVUS and VCUG for VUR detection and grading was 84.3% and 81.8%, respectively. VUR grades were discrepant in 4/11 refluxing pelviureteric units, with VCUG upgrading VUR in 2. CONCLUSION: Detection of VUR with Optison™ ceVUS was comparable to VCUG without exposure to ionizing radiation. CeVUS with Optison™ is a well-tolerated diagnostic procedure with a favorable safety profile.

Failed Intussusception Reduction in Children: Correlation Between Radiologic, Surgical, and Pathologic Findings.

OBJECTIVE: The objective of this study was to identify causes of irreducible intussusception after contrast enema and to correlate imaging findings with surgical and histopathologic findings. MATERIALS AND METHODS: Between 2005 and 2013, a total of 543 children underwent reduction of intussusception with the use of an enema technique (hereafter referred to as "enema reduction"). The medical records of 72 children (56 boys [mean age, 24.8 months; range, 3.8 months to 10.9 years] and 16 girls [mean age, 14.2 months; range, 1.5 months to 6.9 years) who underwent unsuccessful reduction and were treated surgically were retrospectively analyzed. The data collected included information on the cause of intussusception, the risk factors noted on ultrasound, operative management, outcome, and the length of the hospital stay. The imaging findings for these patients were compared with findings for statistically similar age-matched control subjects. RESULTS: Ultrasound detected 56 of 57 cases of intussusception, but it failed to detect the lead point in three cases and failed to detect ischemic necrosis in seven cases. Positive predictors of failed enema reduction were the presence of a distal mass and observation of the dissecting sign. Of the 72 patients who underwent surgical treatment of intussusception, 26 (36.1%) underwent laparoscopy, 38 (52.8%) underwent laparotomy, and eight (11.1%) underwent conversion from laparoscopy to laparotomy. Surgical reduction was performed in 61.1% of cases, small bowel resection in 19.4%, ileocecectomy in 12.5%, and self-reduction in 69%. Pathologic lead points (noted in 25% of cases) included lymphoid hyperplasia (n = 7), Meckel diverticulum (n = 3), Burkitt lymphoma (n = 3), enteric duplication cyst (n = 2), juvenile polyp (n = 2), and adenovirus appendicitis (n = 1). The length of the hospital stay was significantly longer after laparotomy. CONCLUSION: The distalmost location of the intussusception mass and presence of the dissecting sign on images obtained during contrast enema have a higher positive predictive value for failed reduction. Screening ultrasound decreases the number of unnecessary contrast enemas performed; however, classic pathologic lead points, such as Burkitt lymphoma and Meckel diverticulum, may be difficult to diagnose with the use of ultrasound. Laparotomy and laparoscopy are equally safe and efficacious in reducing intussusception, with the length of the hospital stay after laparoscopy significantly shorter than that noted after laparotomy. Most failed enema reductions are idiopathic, and pathologic lead points are noted in 25% of cases.

Comparison of gonadal radiation doses from CT enterography and small-bowel follow-through in pediatric patients.

OBJECTIVE. CT enterography is superior to small-bowel follow-through (SBFT) for diagnosis of inflammatory bowel disease (IBD). It is widely assumed that the radiation dose from CT enterography is greater than that from SBFT in the pediatric patient. This study was designed to compare gonadal doses from CT enterography and SBFT to verify the best imaging choice for IBD evaluation in children. This study also challenges the assumption that CT enterography imparts a higher radiation dose through comparison of calculated radiation doses from CT enterography and SBFT. MATERIALS AND METHODS. Patients 0-18 years old who underwent either CT enterography or SBFT over a 2-year period were included. The CT enterography group consisted of 39 boys and 51 girls, whereas the SBFT group consisted of 89 boys and 113 girls. CT enterography was performed at 120 kVp and approximately 132 mAs (range, 54-330 mAs) using weight-based protocols. SBFT used automated control of kilovoltage and tube current-exposure time product. Patient demographics and technical parameters were collected for CT enterography and SBFT, data were cross-paired between CT enterography and SBFT, and gonadal dose was calculated. RESULTS. Mean (± SD) CT enterography testis and ovarian doses were 0.93 ± 0.3 cGy (n = 39) and 0.64 ± 0.2 cGy (n = 51), respectively. Mean SBFT testis and ovarian doses were 2.3 ± 1.6 cGy (n = 89) and 1.49 ± 0.3 cGy (n = 113), respectively. Mean fluoroscopy time for SBFT was 2.6 ± 2 minutes. Gonadal dose for CT enterography was significantly lower than that for SBFT in boys and girls (p < 0.001). SBFT dose was lower in girls than boys (p < 0.001), whereas CT enterography dose was higher in boys than girls (p < 0.001). CONCLUSION. Gonadal dose for CT enterography was lower than that for SBFT for boys and girls of all sizes and age. Controlled exposure time made CT enterography dose more consistent, whereas the range of dose for SBFT was highly operator dependent and related to extent of disease. Thus, for IBD, CT enterography is preferred over SBFT for all children.

Intestinal obstruction secondary to infantile polyarteritis nodosa.

Polyarteritis Nodosa (PAN) is a rare systemic necrotising vasculitis of medium and small-sized arteries. Patients typically present with systemic symptoms. Obstructive intestinal symptoms are described but usually resolve with treatment of the underlying vascular disease. We report a case of a one year old boy with multiple ischemic small bowel strictures secondary to infantile PAN, who was treated with resection of the affected segments by single port laparoscopy.

Identifying and managing intracranial complications of sinusitis in children: a retrospective series.

BACKGROUND: Of patients admitted to hospital with sinusitis, about 3% have an intracranial complication. We describe the clinical features, laboratory data, imaging findings, and outcomes of pediatric patients with intracranial complications of sinusitis. METHODS: A retrospective chart review of all pediatric patients < 21 years of age admitted for intracranial complications of sinusitis to a tertiary hospital over a 10-year period. RESULTS: A total of 13 patients with a mean age of 13.3 ± 3.7 years presented with headache (92%), fever (85%), nausea/vomiting (62%), sinus tenderness (31%), and lethargy (23%). Physical examination findings included Pott puffy tumor (46%), orbital cellulitis (46%), altered level of consciousness (46%), new-onset seizure (31%), hemiparesis (23%), nuchal rigidity (23%), visual disturbance (23%), and slurred speech (15%). Computed tomography and magnetic resonance imaging demonstrated 16 instances of epidural and subdural empyema, and 1 brain abscess. One child had sagittal sinus thrombosis. CONCLUSIONS: Our findings suggest that acute sinusitis in combination with severe intractable headache, varying degrees of altered level of consciousness, focal neurologic deficits, and/or signs of meningeal irritation should raise clinical suspicion for potential intracranial complications of sinusitis. These signs and symptoms should prompt early and aggressive evaluation and management, including neuroimaging studies, neurologic and otolaryngologic consultations, and intravenous antibiotics.

The accuracy of chest radiographs in the detection of congenital heart disease and in the diagnosis of specific congenital cardiac lesions.

BACKGROUND: Congenital heart disease (CHD) is a significant cause of morbidity and mortality in pediatric patients. Traditional teaching holds that specific types of CHD can be diagnosed on the chest radiograph (CXR) through pattern recognition. OBJECTIVE: To determine the accuracy of radiologists in detecting CHD on the CXR. MATERIALS AND METHODS: This study was a blinded retrospective review of chest radiographs from 281 patients (<12 years) by five pediatric radiologists from three institutions. Thirteen groups were evaluated that included 12 categories of CHD and a control group of patients without heart disease. Radiographs were assessed for heart size, heart and mediastinal shape and vascularity. Clinical information, angiography, echocardiograms and surgery were used as the gold standard for definitive diagnosis. RESULTS: The average accuracy of the five readers in distinguishing normal from CHD patients was 78% (range of 72% to 82%). The overall measure of accuracy in distinguishing specific congenital cardiac lesions among 13 groups of patients was 71% (range of 63% to 79%). CONCLUSION: CXR alone is not diagnostic of specific cardiac lesions, with a low accuracy of only 71%. We believe that less emphasis should be placed on the use of radiographs alone in diagnosing specific congenital cardiac lesions.

Systemic arterial pneumatosis in a neonate with necrotizing enterocolitis.

Ultrasound is exquisitely sensitive for the identification of portal vein pneumatosis, which in neonates is commonly caused by necrotizing enterocolitis. We describe the ultrasound finding of systemic arterial pneumatosis in a case of necrotizing enterocolitis associated with congenital heart disease. A combination of a patent ductus venosus and an extracardiac right-to-left shunt via the great vessels through a patent ductus arteriosus provided a pathway for the pneumatosis from the portal vein to the abdominal aorta.

Thoracic outlet syndrome in a child--transaxillary resection of anomalous first rib.

Thoracic outlet syndrome (TOS) is extremely rare in children. Only several pediatric cases have been reported, and all presented with neurologic symptoms. The authors report on a 6-year-old boy with an asymptomatic left subclavian artery aneurysm caused by compression of the subclavian artery by an anomalous first rib with poststenotic aneurysmal dilatation. This was successfully managed by transaxillary resection of the anomalous rib. This represents the youngest reported case of TOS and the first description of a vascular manifestation of TOS in the pediatric population. Access to the costoscalene triangle utilizing a transaxillary approach was straightforward and afforded excellent exposure, even in a child.