Solitary cutaneous infantile myofibroma as a hallmark of myofibromatosis: Two cases and review of the literature.

Infantile myofibroma (IM) commonly presents as a benign cutaneous fibrous tumor in infancy. Although the majority of solitary IM regress without any morbidity, some cases have underlying bone or visceral involvement that can lead to both morbidity and mortality. In this report with review of the literature, we present two cases of solitary cutaneous IM with internal involvement and discuss screening cases of solitary IM with full body imaging.

Osteogenesis Modulation: Induction of Mandibular Bone Growth in Adults by Electrical Field for Aesthetic Purposes.

BACKGROUND: A new technique in plastic surgery termed Osteogenesis Modulation is described. This technique uses a surgically implanted, battery-operated medical device to deliver customized electrical pulses to produce mandibular bone growth. This device was designed to be a temporary, nonpermanent implant. The purpose of this study was to review both the safety and efficacy of Osteogenesis Modulation. METHODS: This study comprises two phases. Phase I involved experimental technology development and animal experiments. Phase II included technology development for clinical use and a clinical trial. In Phase II, four patients with a diagnosis of mandibular hypoplasia and microgenia underwent surgical implantation of the novel medical device over the chin bone. Once a satisfactory change of contour of mandibular bone was achieved, the devices were removed. In all patients, the devices were left in place for 12 months, then surgically removed under local anesthesia. Preoperative and long-term postoperative cephalometric controls were done. RESULTS: In all patients, symmetrical mandibular bone growth was observed with good-to-excellent aesthetic results. The overall follow-up period was 39 months. Cephalometric controls taken 3 to 6 months after the device removal showed an average increase in mandible length of 5.26mm (range, 2.83-7.60mm) CONCLUSIONS: Preliminary clinical results suggest that Osteogenesis Modulation is a safe, minimally invasive, and effective alternative treatment for the correction of mandibular hypoplasia in selected cases. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

A Novel Thoracic Ultrasound Measurement After Congenital Diaphragmatic Hernia Repair Identifies Decreased Diaphragmatic Excursion Associated With Adverse Respiratory and Surgical Outcomes.

Background and Aim: Congenital diaphragmatic hernia (CDH) is a rare defect often associated with pulmonary hypoplasia and abnormal pulmonary vascular development. Even after successful hernia repair, pulmonary disease may persist into adulthood. Impaired diaphragmatic motility may lead to compromised respiratory function long after index repair. This study investigates whether a novel ultrasound measurement, the diaphragmatic excursion ratio, can be a simple and non-invasive method to evaluate routine diaphragmatic motion after CDH repair, and whether it correlates with adverse surgical and respiratory outcomes. Materials and Methods: A cross-sectional study was conducted in consecutive patients who presented at medium-term follow-up visit between December 2017 and December 2018 after CDH repair at single pediatric hospital. Transthoracic ultrasound was performed with craniocaudal diaphragmatic excursion measured bilaterally during routine breathing. Diaphragmatic excursion ratios (diaphragmatic excursion of repaired vs. unrepaired side) were calculated and retrospectively compared with clinical data including demographics, length of stay, respiratory adjuncts, oral feeding, and need for gastrostomy. Results: Thirty-eight patients (median age at ultrasound, 24 months, interquartile range 11-60) were evaluated. Nine patients underwent primary repair, 29 had non-primary repair (internal oblique muscle flap or mesh patch). Patients with a diaphragmatic excursion ratio below the median (0.54) had longer hospital stays (median 77 vs. 28 days, p = 0.0007) more ventilator days (median 16 vs. 9 days, p =0.004), and were more likely to have been discharged on oxygen (68 vs. 16%, p = 0.001). They were also less likely to be exclusively taking oral feeds at 1-year post-surgery (37 vs. 74%, p = 0.02) and more likely to require a gastrostomy tube in the first year of life (74 vs. 21%, p = 0.003). Conclusions: Transthoracic ultrasound after CDH repair is practical method to assess diaphragm motion, and decreased diaphragm excursion ratio is associated with worse respiratory outcomes, a longer length of stay, and dependence on gastrostomy tube feeding within 1 year. Further prospective studies may help validate this novel ultrasound measurement and offer prognostic value.

Association of image-defined risk factors with clinical features, histopathology, and outcomes in neuroblastoma.

BACKGROUND: Clinical, molecular, and histopathologic features guide treatment for neuroblastoma, but obtaining tumor tissue may cause complications and is subject to sampling error due to tumor heterogeneity. We hypothesized that image-defined risk factors (IDRFs) would reflect molecular features, histopathology, and clinical outcomes in neuroblastoma. METHODS: We performed a retrospective cohort study of 76 patients with neuroblastoma or ganglioneuroblastoma. Diagnostic CT scans were reviewed for 20 IDRFs, which were consolidated into five IDRF groups (involvement of multiple body compartments, vascular encasement, tumor infiltration of adjacent organs/structures, airway compression, or intraspinal extension). IDRF groups were analyzed for association with clinical, molecular, and histopathologic features of neuroblastoma. RESULTS: Patients with more IDRF groups had a higher risk of surgical complications (OR = 3.1, p = 0.001). Tumor vascular encasement was associated with increased risk of surgical complications (OR = 5.40, p = 0.009) and increased risk of undifferentiated/poorly differentiated histologic grade (OR = 11.11, p = 0.013). Tumor infiltration of adjacent organs and structures was associated with decreased survival (HR = 8.90, p = 0.007), MYCN amplification (OR = 9.91, p = 0.001), high MKI (OR = 6.20, p = 0.003), and increased risk of International Neuroblastoma Staging System stage 4 disease (OR = 8.96, p < 0.001). CONCLUSIONS: The presence of IDRFs at diagnosis was associated with high-risk clinical, molecular, and histopathologic features of neuroblastoma. The IDRF group tumor infiltration into adjacent organs and structures was associated with decreased survival. Collectively, these findings may assist surgical planning and medical management for neuroblastoma patients.

Facial Feminization Surgery: Key CT Findings for Preoperative Planning and Postoperative Evaluation.

Facial feminization surgery is an increasingly performed component of gender affirmation surgery for transgender women. Preoperative facial CT is performed to plan the adjustment of the patient's masculine characteristics to feminine and to plan operative navigation around specific readily identifiable anatomic structures. In the upper face, surgery is performed to reduce the prominence of the brow and increase the nasofrontal angle; the radiology report should indicate the frontal sinus and supraorbital foramen anatomy. In the midface, rhinoplasty is performed to increase the nasofrontal and nasolabial angles; the radiology report should indicate the presence of a dorsal hump and septal deviation or spurring. In the lower face, the prominence of the chin and squareness of the jaw are adjusted via genioplasty and mandible contouring, respectively; the radiology report should describe the location and potential anatomic variations of the inferior alveolar nerve and mental foramina as well as the presence of dental abnormalities that directly inform the surgical approach. CT may also be performed if there is clinical suspicion for postoperative complications such as hardware fracture or osteotomy through the supraorbital or mental foramen. Familiarity with these findings will facilitate improved communication between radiologists and surgeons, thereby contributing to the care of transgender women.

Facial Feminization Surgery: Key CT Findings for Preoperative Planning and Postoperative Evaluation.

Facial feminization surgery (FFS) is an increasingly performed component of gender affirmation surgery for transgender women. Preoperative facial CT is performed to plan the adjustment of the patient's masculine characteristics to feminine, and to plan operative navigation around specific readily identifiable anatomic structures. In the upper face, surgery is performed to reduce the prominence of the brow and increase the nasofrontal angle; the radiology report should indicate the frontal sinus and supraorbital foramen anatomy. In the midface, rhinoplasty is performed to increase the nasofrontal and nasolabial angles; the radiology report should indicate presence of a dorsal hump and septal deviation or spurring. In the lower face, prominence of the chin and squareness of the jaw are adjusted via genioplasty and mandible contouring, respectively; the radiology report should describe the location and potential anatomic variations of the inferior alveolar nerve and mental foramina, as well as presence of dental abnormalities that directly inform the surgical approach. CT may also be performed if there is clinical suspicion for postoperative complications such as hardware fraction or osteotomy through the supraorbital or mental foramen. Familiarity with these findings will facilitate improved communication between radiologists and surgeons, thereby contributing to the care of transgender women.

Monitoring Arteriovenous Malformation Response to Genotype-Targeted Therapy.

Arteriovenous malformations (AVMs) have recently been reported to have a high incidence of somatic KRAS mutations suggesting potential for treatment with mitogen-activated protein kinase inhibitors. In this case report, we describe genotype-targeted treatment of a KRAS mutant metameric AVM in a patient with Cobb syndrome using the mitogen-activated protein kinase inhibitor trametinib. Therapeutic response was monitored with phase-contrast magnetic resonance angiography to quantify AVM arterial inflow as an imaging biomarker. Treatment with trametinib resulted in a substantial decrease in blood flow to the AVM, with a >75% reduction in arterial inflow after 6 months of trametinib therapy.

De novo somatic mutations and KRAS amplification are associated with cholangiocarcinoma in a patient with a history of choledochal cyst.

BACKGROUND/PURPOSE: Choledochal cysts are congenital dilations of the bile ducts, and are associated with an increased risk of malignant transformation. The purpose of this study is to report the outcomes of a large series of patients with choledochal cysts and to highlight our analysis of one patient who developed malignancy after cyst resection. METHODS: We conducted a retrospective review of patients <18 years of age with a choledochal cyst who underwent surgical resection between 1995 and 2018. Molecular testing of resected choledochal cyst specimens using the UCSF500 gene panel was performed on three patients including a 3-month-old boy and a 7-year-old girl who have remained cancer-free, and a 16-year-old girl who subsequently developed cholangiocarcinoma less than two years after resection. RESULTS: One patient of the 48 included in our study developed cholangiocarcinoma after choledochal cyst resection. We observed de novo somatic mutations in TP53 and RBM10, and KRAS amplification in this patient's tumor. CONCLUSIONS: In our series, the rate of malignancy after choledochal cyst resection was low. One patient developed de novo mutations in the remnant bile ducts after cyst resection. While it is a rare occurrence, the risk of malignancy following cyst resection supports the need for lifelong surveillance. LEVEL OF EVIDENCE: IV.

Muscle herniation as a cause of superficial lumps on the legs of a healthy teenager.

Muscular hernias, focal protrusions of muscle through fascial weaknesses, are uncommon in pediatric patients. When diagnosed, they are usually found on the legs from protrusions of tibialis anterior muscle in young male athletes. Here, we present a case of a healthy 16-year-old boy who developed asymptomatic nodules on the bilateral feet and lateral lower legs, which were confirmed by ultrasound to be focal muscle herniations. Our case highlights a rare example of bilateral muscle herniation in a pediatric patient and the utility of ultrasound as a diagnostic modality for this uncommon condition.

The Incidence and Durability of Compensatory Hypertrophy in Pediatric Patients with Solitary Kidneys.

OBJECTIVE: To evaluate the incidence and durability of compensatory hypertrophy with solitary kidneys in the setting of those with multicystic dysplastic kidney (MCDK) or Wilms tumor (WT) status postnephrectomy. PATIENTS AND METHODS: We conducted a retrospective cohort study of patients with MCDK and WT. MCDK patients were verified by sonographic findings prenatally. WT patients entered our study at time of nephrectomy. We compared the natural history of hypertrophy between the 2 cohorts via renal length measurement. We performed linear regression to predict creatinine clearance from renal length after adjusting for age and cohort status (MCDK versus WT). RESULTS: Fifty-two patients (56%) were diagnosed with WT, and 71 patients (44%) with MCDK patients met study criteria with a median age of postnatal ultrasound at 1.6 months (interquartile range 0.5-3.6). The median (IQR) follow-up time was 7.5 years. At the time of nephrectomy, 25/52 (48%) of Wilms patients had contralateral hypertrophy, while at diagnosis 22/71 (31%) of MCDK patients had contralateral hypertrophy, P = .03. Contralateral hypertrophy was a consistent finding throughout follow-up. As renal length increases by 1 cm, glomerular filtration rate increased by 7.8 mL/min/m2 (95% confidence interval 1.8-13.8, P = .01). CONCLUSION: Contralateral hypertrophy appears to be a compensatory mechanism for unilateral kidney pathology as demonstrated by MCDK and WT patients. Hypertrophy often occurs at the time of diagnosis and appears to be a permanent finding as children reach their teenage years. Additionally, in nonhydronephrotic kidneys, increases in renal length correlate with improvement in glomerular filtration rate. Overall, the majority of children with solitary kidneys demonstrate compensatory hypertrophy.

Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives.

Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome inherited in an autosomal dominant fashion that involves a germline mutation of tumor protein 53 (TP53). With the advent of more accessible and accurate genetic testing methods, along with more widespread knowledge of LFS, asymptomatic carriers can now be more easily identified. No general surveillance protocols were previously recommended other than routine physical exams and breast and colon cancer screening at younger ages, primarily due to questions involving efficacy, cost, and clinical benefits. With more data now available to support the implementation of a surveillance protocol for cancer predisposition syndromes such as LFS, preventative screening has become a national standard of care. However, as surveillance becomes more integrated into patient care, the benefits and risks must be further evaluated. We briefly describe our institutional experience with surveillance screening in LFS and describe two patients in depth where surveillance imaging brought to light false positives that led to increased utilization of resources and concern for new malignancy. Though the benefits of surveillance are clear, it is important to understand the potential for false positives involved with instituting this practice. Continued research of this topic is thus warranted, perhaps with larger prospective studies, to better capture the survival benefits of patients undergoing surveillance screening and more comprehensively understand the incidence of false positives.

The Distended Fetal Hypopharynx: A Sensitive and Novel Sign for the Prenatal Diagnosis of Esophageal Atresia.

BACKGROUND/PURPOSE: Although advances have been made in the prenatal diagnosis of esophageal atresia (EA), most neonates are not identified until after birth. The distended hypopharynx (DHP) has been suggested as a novel prenatal sign for EA. We assess its diagnostic accuracy and predictive value on ultrasound (US) and magnetic resonance imaging (MRI), both alone and in combination with the esophageal pouch (EP) and secondary signs of EA (polyhydramnios and a small or absent fetal stomach). METHODS: We retrospectively reviewed fetal US and MRI reports and medical records of 88 pregnant women evaluated for possible EA from 2000 to 2016. Seventy-five had postnatal follow-up that confirmed or disproved the diagnosis of EA and were included in our analysis. RESULTS: Seventy-five women had 107 study visits (range 1-4). DHP and/or EP were seen on US and/or MRI in 36% of patients, and 78% of those patients had EA. DHP was 24% more sensitive for EA than EP, while EP was 30% more specific. After 28weeks of gestation, DHP had a predictive accuracy for EA of 0.929 (P=0.001). CONCLUSIONS: DHP is a sensitive additional prenatal sign of EA. More accurate diagnosis of EA allows for improved counseling regarding delivery, postnatal evaluation, and surgical correction. TYPE OF STUDY: Diagnostic. LEVEL OF EVIDENCE: Level II.

ABVD Without Radiation for Newly Diagnosed Pediatric and Young Adult Patients With Hodgkin Lymphoma: A Single Center Retrospective Analysis of 28 Consecutive Patients.

Hodgkin lymphoma (HL) is the most common malignancy affecting adolescents and young adults. Treatment with a combination of chemotherapy and radiation results in cure rates of >90%. However, radiation therapy causes significant late effects and avoiding radiation entirely for patients who respond to chemotherapy is an accepted strategy. Since 2011, 28 consecutive patients diagnosed with classic HL have been treated with doxorubicin, bleomycin, vinblastine, and dacarbazine (ABVD) for 4 to 6 cycles. Patients who achieved a complete metabolic response (CMR) as assessed by [F] fluorodeoxyglucose positron emission tomography by the end of chemotherapy did not receive radiation. Among the 27 evaluable patients, 26/27 (96.2%) achieved a CMR with ABVD alone with 24/27 (88.9%) having achieved a CMR after 2 cycles. Event-free survival at 5 years is 90.5% and overall survival is 100% with a median follow-up time of 22.4 and 22.1 months, respectively. Treating pediatric and young adult HL patients with ABVD alone results in CMRs in >95% of patients. Patients who were refractory to ABVD or relapsed after treatment eventually achieved remission with a combination of standard and novel salvage therapies. This regimen demonstrates the feasibility of avoiding upfront radiation in newly diagnosed pediatric HL patients.

Can Radiologists Learn From Airport Baggage Screening?: A Survey About Using Fictional Patients for Quality Assurance.

RATIONALE AND OBJECTIVES: For both airport baggage screeners and radiologists, low target prevalence is associated with low detection rate, a phenomenon known as "prevalence effect." In airport baggage screening, the target prevalence is artificially increased with fictional weapons that are digitally superimposed on real baggage. This strategy improves the detection rate of real weapons and also allows airport supervisors to monitor screener performance. A similar strategy using fictional patients could be applied in radiology. The purpose of this study was twofold: (1) to review the psychophysics literature regarding low target prevalence and (2) to survey radiologists' attitudes toward using fictional patients as a quality assurance tool. MATERIALS AND METHODS: We reviewed the psychophysics literature on low target prevalence and airport x-ray baggage screeners. An online survey was e-mailed to all members of the Association of University Radiologists to determine their attitudes toward using fictional patients in radiology. RESULTS: Of the 1503 Association of University Radiologists member recipients, there were 153 respondents (10% response rate). When asked whether the use of fictional patients was a good idea, the responses were as follows: disagree (44%), neutral (25%), and agree (31%). The most frequent concern was the time taken away from doing clinical work (89% of the respondents). CONCLUSIONS: The psychophysics literature supports the use of fictional targets to mitigate the prevalence effect. However, the use of fictional patients is not a popular idea among academic radiologists.

From Inguinal Hernias to Spermatic Cord Lipomas: Pearls, Pitfalls, and Mimics of Abdominal and Pelvic Hernias.

Abdominal and pelvic hernias may be indolent and detected incidentally, manifest acutely with pain and distress, or cause chronic discomfort. Physical examination findings are often ambiguous and insufficient for optimal triage. Therefore, accurate anatomic delineation and identification of complications are critical for effective treatment planning. Imaging, particularly computed tomography, provides a vital understanding of the hernia's location and size, involved viscera, and severity of associated complications. Reader familiarity with the imaging appearances and anatomic landmarks of hernias is important for correct diagnosis, which may impact preoperative planning and reduce morbidity. This article reviews the appearance of anatomic structures in the abdominal wall and pelvis that are important for diagnosing common and uncommon abdominal and pelvic hernias, and it highlights key imaging features that are helpful for differentiating hernias, mimics, and their complications. Online DICOM image stacks are available for this article . ©RSNA, 2017.

Pediatric renal transplant biopsy with ultrasound guidance: the 'core' essentials.

This review provides a comprehensive and practical approach to pediatric percutaneous renal transplant biopsies, highlighting techniques and strategies to optimize adequate sample yield and ensure patient safety. In children with end-stage renal disease, transplantation is the preferred choice of therapy, providing for overall lower long-term morbidity and mortality compared with dialysis. In the ongoing management of renal transplant patients, core tissue sampling via a percutaneous renal biopsy remains the gold standard when transplant dysfunction is suspected. Indications for renal transplant biopsy and techniques/tools for adequate sample yield are discussed. Strategies for common challenges such as poor visualization and renal transplant mobility are addressed. We discuss the clinical signs, techniques and imaging findings for common complications including hematomas, arteriovenous fistulas and pseudoaneurysms. Although the percutaneous renal transplant biopsy procedure is generally safe with rare complications, care must be taken to ensure major complications are promptly recognized and treated. Adequate tissue samples obtained via renal biopsy are imperative to promptly identify transplant rejection to provide valuable information for patient diagnosis, treatment and outcomes. Radiologist and nephrologist attention to proper ultrasound techniques and optimal biopsy tools are critical to ensure tissue adequacy and minimize complications.

Hepatic steatosis after pediatric liver transplant.

Hepatic steatosis develops after liver transplantation (LT) in 30% of adults, and nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in nontransplanted children. However, posttransplant steatosis has been minimally studied in pediatric LT recipients. We explored the prevalence, persistence, and association with chronic liver damage of hepatic steatosis in these children. In this single-center study of pediatric patients transplanted 1988-2015 (n = 318), 31% of those with any posttransplant biopsy (n = 271) had ≥ 1 biopsy with steatosis. Median time from transplant to first biopsy with steatosis was 0.8 months (interquartile range [IQR], 0.3-6.5 months) and to last biopsy with steatosis was 5.5 months (IQR, 1.0-24.5 months); 85% of patients with steatosis also had for-cause biopsies without steatosis. All available for-cause biopsies were re-evaluated (n = 104). Of 9 biopsies that could be interpreted as nonalcoholic steatohepatitis (NASH)/borderline NASH, with steatosis plus inflammation or ballooning, 8 also had features of cholestasis or rejection. Among 70 patients with surveillance biopsies 3.6-20.0 years after transplant, only 1 overweight adolescent had a biopsy with NAFLD (grade 1 steatosis, mild inflammation, no ballooning or fibrosis)-despite a 30% prevalence of overweight/obesity in the cohort and 27% with steatosis on previous for-cause biopsy. Steatosis on preceding for-cause biopsy was not associated with portal (P = 0.49) or perivenular fibrosis (P = 0.85) on surveillance biopsy. Hepatic steatosis commonly develops early after transplant in children and adolescents, but it rarely persists. Biopsies that did have steatosis with NASH characteristics were all for-cause, mostly in patients with NAFLD risk factors and/or confounding causes of liver damage. Prospective studies that follow children into adulthood will be needed to evaluate if and when hepatic steatosis presents a longterm risk for pediatric LT recipients. Liver Transplantation 23 957-967 2017 AASLD.

Pediatric chest CT at chest radiograph doses: when is the ultralow-dose chest CT clinically appropriate?

PURPOSE: Computed tomography (CT) use in emergency departments represents a significant contribution to pediatric patients' exposure to ionizing radiation. Here, we evaluate whether ultralow-dose chest CT can be diagnostically adequate for other diagnoses and whether model-based iterative reconstruction (MBIR) can improve diagnostic adequacy compared to adaptive statistical iterative reconstruction (ASIR) at ultralow doses. METHODS: Twenty children underwent chest CTs: 10 standard-dose reconstructed with ASIR and 10 ultralow-dose reconstructed with ASIR and MBIR. Four radiologists assessed images for their adequacy to exclude five hypothetical diagnoses: foreign body, fracture, lung metastasis, pulmonary infection, and interstitial lung disease. Additionally, pairwise comparison for subjective image quality was used to compare ultralow-dose chest CT with ASIR and MBIR. Radiation dose and objective image noise measures were obtained. RESULTS: For exclusion of an airway foreign body, the adequacy of ultralow-dose CT was comparable to standard-dose (p = 0.6). For the remaining diagnoses, ultralow-dose CT was inferior to standard-dose (p = 0.03-<0.001). MBIR partially recovered the adequacy of ultralow-dose CT to exclude pulmonary infection (p = 0.017), but was suboptimal for the other diagnoses. Image noise was significantly lower with MBIR compared to ASIR in ultralow-dose CT (p < 0.001), although subjective preference showed only a slight advantage of MBIR (58 versus 42%). CONCLUSIONS: Ultralow-dose chest CT may be adequate for airway assessment, but suboptimal for the evaluation parenchymal lung disease. Although MBIR improves objective and subjective image quality, it does not completely restore the diagnostic adequacy of ultralow-dose CT when compared to standard-dose CT.