Oral sirolimus for the treatment of juvenile xanthogranuloma: Report of two pediatric cases.

Juvenile xanthogranuloma (JXG) with extensive cutaneous or visceral organ involvement is often associated with high morbidity and treatment commonly involves surgical excision, radiotherapy, systemic steroids, or chemotherapy. Sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, is an oral antitumor and immunosuppressive therapy used to treat various neoplastic disorders, including histiocytic disorders. We report two pediatric cases of JXG successfully treated with oral sirolimus monotherapy, and postulate that sirolimus may induce rapid disease resolution and long-term remission for patients with both skin-limited and multisystemic JXG. Our findings warrant further investigation of the relationship between the mTOR pathway and JXG.

Utilizing ultrasound in suspected necrotizing enterocolitis with equivocal radiographic findings.

BACKGROUND: To examine the use of abdominal ultrasound (AUS) as a diagnostic adjunct in the diagnosis of necrotizing enterocolitis (NEC) in cases where abdominal radiography (AXR) is equivocal in order to reduce unnecessary antibiotic use in neonates. METHODS: Retrospective study (2017-2019) of infants undergoing NEC evaluation with equivocal AXR findings (n = 54). Paired AXR and AUS were reviewed with respect to presence or absence of pneumatosis. Concordance of AUS findings with decision to treat for NEC was evaluated. RESULTS: Among 54 infants where AXR was equivocal, AUS demonstrated presence of pneumatosis in 22 patients (41%), absence of pneumatosis in 31 patients (57%), and was equivocal in 1 patient. All patients with pneumatosis on AUS were treated for NEC. Of 31 patients without pneumatosis on AUS, 25 patients (78%) were not treated for NEC. Patients without pneumatosis on AUS received a significantly shorter mean duration of antibiotics compared to those with pneumatosis (3.3 days (+/- 4.8 days) vs 12.4 days (+/- 4.7 days)); p < 0.001). Of those patients not treated, none required treatment within 1 week following negative AUS. CONCLUSION: AUS is a valuable tool for evaluating the presence or absence of pneumatosis in the setting of equivocal AXR. Absence of pneumatosis on AUS informs clinical decision making and reduces unnecessary treatment and antibiotic usage.

Diagnosis of EVALI in Adolescents During the COVID-19 Pandemic: A Case Series.

OBJECTIVE: Electronic-cigarette or vaping use-associated lung injury (EVALI) is an illness that requires further awareness for appropriate diagnosis and management. This series is a retrospective chart review of EVALI cases admitted from June to December 2020 at a large academic children's hospital in New York. METHODS: Notably during this time, the coronavirus disease 2019 (COVID-19) global pandemic rendered the world under strict quarantine mandates. We discuss 7 patients, all of whom were seen in a clinic, urgent care, or emergency department before presentation to our hospital. RESULTS: Patients presented with respiratory, gastroenterology, and constitutional complaints typically seen with EVALI and COVID-19. However, given their complex presentations in the setting of the COVID-19 pandemic, EVALI was not considered as pertinent history was not elicited. CONCLUSIONS: With the COVID-19 pandemic as a setting for these cases, we emphasize the importance of eliciting a complete psychosocial history for all adolescents because without vaping disclosure, EVALI will go undiagnosed. It is also imperative to ensure consistent outpatient follow-up, although difficult because of limited access or hesitation and fear of acquiring COVID-19 in health care settings during the pandemic, and to stress vaping cessation, both of which are crucial in preventing further complications.

Pediatric Peritoneal Epithelial Malignant Mesothelioma Case Report.

We present a 14-year-old boy with peritoneal epithelial malignant mesothelioma (PEMM). While pathology is required to make this diagnosis, radiology plays a crucial role throughout the clinical course of this disease. The key imaging characteristics of peritoneal mesothelioma have been previously well-described in the adult population, but there are rare reports in the pediatric population. This pediatric report highlights the multidimensional use of imaging in this disease, from the initial evaluation to therapeutic supplementation and subsequent follow-up.

Primary thromboprophylaxis to prevent thrombotic events in pediatric oncology patients with a malignant mediastinal mass.

Children with malignant mediastinal masses have increased thrombotic events (TE). Eligible subjects with malignant mediastinal masses between January 2000 and December 2017 were evaluated for TE, with 19 among 76 subjects receiving enoxaparin thromboprophylaxis. There were 13 TEs among 76 subjects for an incidence of 17.1%. Mediastinal compression directly led to TE in 9.2% of subjects who also had statistically significant superior vena cava compression at diagnosis. Primary thromboprophylaxis did not significantly affect TE occurrence; however, larger studies are warranted to consider strategic thromboprophylaxis guided by radiological monitoring of dynamic vascular compression to improve TE outcomes.

Structured Neonatal Point-of-Care Ultrasound Training Program.

OBJECTIVE: Point-of-care ultrasound (POC US) has been increasingly used by intensive care physicians. Growing use of POC US necessitates defining distinct clinical indications for its application, as well as structured POC US training programs. Homogeneous approach to POC US education combined with rigorous quality assurance should further enable POC US to become standard-of-care clinical tool. This study aimed to present the first, innovative, and structured POC US program in neonatal-perinatal medicine field. In addition, we reviewed the availability of the POC US training programs across different medical specialties. STUDY DESIGN: Available English-language publications on POC US training programs in general and neonatal-perinatal medicine were reviewed in this study. DISCUSSION: Mounting body of evidence suggests improved procedural completion rates, as well as clinical decision making with the use of POC US. However, limited research supported the existence of structured, comprehensive POC US programs. It was recognized that medical institutions need to develop syllabuses, teach, and credential increasing number of health care professionals in the use of POC US. We defined intuitive educational strategy that encompasses POC US clinical indications, educational curriculum, scanning protocols, competence evaluation, and finally credentialing process. In addition, we offered description of the imaging quality assurance, as well as POC US coding, and reimbursement. CONCLUSION: Future efforts need to be dedicated to the ongoing development of neonatal POC US as a clinical instrument. It should allow for eventual paradigm change and improved effectiveness in management of critically ill neonates.

Congenital Rhabdomyosarcoma Presenting as a Neck Mass at Birth.

Rhabdomyosarcoma is a malignant tumor of the soft tissues which preferentially affects the pediatric population. Neonatal rhabdomyosarcoma is rare, and much of the published literature concerning this entity consists of isolated case reports and small case series. Recent work involving the classification of rhabdomyosarcoma has helped to delineate prognostic information based on gene rearrangements. Here, we present a case of congenital rhabdomyosarcoma seen in utero which manifested as a neck mass at birth and was found to harbor a favorable gene fusion.

The Utility of MRI in the Diagnosis of Takayasu Arteritis.

Takayasu Arteritis (TA) is an inflammatory disorder involving the thoracoabdominal aorta and its branches and the pulmonary arteries, with eventual vascular stenosis, occlusion, or aneurysm formation. Conventional angiography has been the reference imaging standard for diagnosis of TA. The purpose of this case report is to demonstrate the utility of MR imaging and MR angiography in the diagnosis of Takayasu Arteritis in a pediatric patient. The patient is a 15-year-old female patient presenting with anemia, hypertension, and acute kidney injury. Initial chest CT demonstrated ectasia of the ascending and focal stenosis of the descending thoracic aorta, prompting further evaluation with MRI and MRA. MRI/MRA demonstrated mural thickening with luminal stenosis of the aorta and aortic branch vessels. These imaging findings were suggestive of a large vessel arteritis and along with the clinical presentation and laboratory abnormalities the diagnosis of Takayasu Arteritis was suggested. Several case series in adults have described the cross-sectional findings of TA. However, this case report demonstrates the utility of MRI/MRA in the evaluation of TA in children and in the course of follow-up, as it provides a noninvasive method for evaluating a child without ionizing radiation or iodinated contrast.

Cystic Lung Disease in Down Syndrome: A Case Report and Literature Review.

Subpleural lung cysts (SPC) are seen in children with Down syndrome (DS). The incidence and the long term course of these lesions are not known. It is important for pediatricians and pediatric radiologists to be aware of these lung lesions since the DS patients' longevity has increased and they have greater frequency to encounter the clinicians. Autopsy and the radiology series have shown that these lesions are often found in association with congenital heart disease, particularly the endocardial cushion defect and prematurity.

Impact of Music in Reducing Patient Anxiety During Pediatric Ultrasound.

The use of noninvasive ultrasound examinations can potentially result in significant anxiety in the pediatric population. The purpose of this study was to assess the influence of music during pediatric ultrasound examinations to reduce anxiety measured by heart rate. A total of 44 patients were recruited; 21 controls and 23 experimental. Each participant was randomized to either music or no music (control) after parental consent was obtained. Pulse oximeters were used to monitor heart rate at 15 second intervals for a total of 1 minute, with mean values calculated prior to entering the procedure room, during the middle of the procedure, and after the procedure was completed. The total scan time was determined from the initial image acquisition until the last image recorded by the ultrasound technologist. At the completion of each procedure, the ultrasound technologist scored the ease of performance for the scan on a subjective scale of 1-10 based on prior experience. When utilizing music during pediatric ultrasounds examinations, our study demonstrated significantly decreased heart rate variability from pre-procedural to post-procedural periods. There was no statistical significant difference in total scan time or ultrasound technologist scoring between the two groups. This study demonstrates that music is an inexpensive and effective means of reducing anxiety during pediatric ultrasound as indicated by heart rate.

Clinical and Imaging Features of a Congenital Midline Cervical Cleft in a Neonate: A Rare Anomaly.

Congenital midline cervical cleft (CMCC) is a rare congenital anomaly. CMCC and its complications and treatment have been well described in ENT, dermatology, and pediatric surgery literature. However, to our knowledge, the imaging work-up has not been reported in the literature thus far. We present a case of CMCC in a neonate with description of clinical presentation and imaging features.

Deep Venous Thrombosis of the Leg, Associated with Agenesis of the Infrarenal Inferior Vena Cava and Hypoplastic Left Kidney (KILT Syndrome) in a 14-Year-Old Child.

Agenesis of the inferior vena cava (IVC) is a rare anomaly which can be identified as incidental finding or can be associated with iliofemoral vein thrombosis. IVC agenesis has a known association with renal anomalies which are mainly confined to the right kidney. We describe a case of a 14-year-old male who presented with left leg swelling and pain. Ultrasonography confirmed the presence of left leg deep vein thrombosis (DVT). No underlying hematologic risk factors were identified. A CT scan was obtained which demonstrated absent infrarenal IVC and extensive thrombosis in the left deep venous system and development of collateral venous flow into the azygous/hemiazygous system, with extension of thrombus into paraspinal collaterals. An additional finding in the patient was an atrophic left kidney and stenosis of an accessory left renal artery. Agenesis of the IVC should be considered in a young patient presenting with lower extremity DVT, especially in patients with no risk factors for thrombosis. As agenesis of the IVC cannot be corrected, one should be aware that there is a lifelong risk of lower extremity DVT.

Separation of the proximal humeral epiphysis in the newborn: rapid diagnosis with ultrasonography.

Separation of the proximal humeral epiphysis (SPHE) is a well-known occurrence and may occur secondary to trauma, infection, and nonaccidental trauma. Since most newborns do not have the proximal humeral epiphysis ossified at birth, the diagnosis may be difficult to make on routine radiographs. Ultrasonography of the shoulder in the newborn is rapid, noninvasive, and nonionizing imaging techniques which can diagnose SPHE. In this report, we describe and emphasize the diagnostic utility of state-of-the-art ultrasonography for the diagnosis of SPHE.

Peritoneal inclusion cysts in female children: pathogenesis, treatment, and multimodality imaging review.

We report the multimodality imaging findings of peritoneal inclusion cysts in two adolescent females each with a prior history of abdominal surgery. The few reports of peritoneal inclusion cysts in the pediatric population have largely focused on the clinical and pathological features of this entity. We wish to emphasize the imaging findings of peritoneal inclusion cysts on multiple modalities, the advantage of MRI in confirming the diagnosis, and the need to keep considering this diagnosis in patients who present with a pelvic cystic mass, with a history of surgery, even if remote. Additionally, we review the pathology, pathophysiology, differential diagnosis, and treatment options of peritoneal inclusion cysts.

Development of Localized Pulmonary Interstitial Emphysema in a Late Preterm Infant without Mechanical Ventilation.

Pulmonary interstitial emphysema (PIE) is not an uncommon finding in premature infants with respiratory distress who need respiratory support by mechanical ventilation. PIE has been reported in a few cases of neonates in whom either no treatment other than room air was given or they were given continuous positive end-expiratory pressure (CPAP) support. We present a case of a premature neonate who presented with respiratory distress, in whom PIE and spontaneous pneumothorax (PTX) developed while on CPAP therapy only. The patient was treated conservatively with subsequent resolution of the radiological findings and clinical improvement. No surgical intervention was required. It is important to know that PIE may develop independently of mechanical ventilation. We would like to add this case to the literature and describe the pertinent plain film and computed tomography (CT) findings of this entity, the possible mechanism of development, and the differential diagnosis. A review of the literature is also provided.

Clinical utility of corpus callosum measurements in head sonograms of preterm infants: a cohort study.

OBJECTIVE: To assess the clinical usefulness of measurement of corpus callosum (CC) size in head ultrasound (HUS) to predict short-term neurodevelopmental (ND) outcomes in preterm infants. We hypothesised that including CC measurements in routine HUS will be an additional tool for early identification of infants at risk of adverse short-term ND outcome, over and above the predictive power of perinatal morbidities. DESIGN: Retrospective cohort study. SETTING: Level III neonatal intensive care unit (NICU) and outpatient NICU follow-up clinic of an academic medical centre in New York City. PARTICIPANTS: 929 HUS of 502 infants with gestational age of 23-36 weeks in African-American infants were initially studied. Exclusion criteria included those who died, had gross abnormalities in HUS, infants with race other than African-American, infants with suboptimal quality of HUS, late preterm infants and infants who did not participate in ND follow-up. A total of 173 infants completed the study. INTERVENTIONS: CC size (length and thickness) was measured in a subset of 87 infants who had routine HUS between 23 and 29 weeks (0-6 postnatal weeks). Relevant clinical variables were collected from chart reviews. ND assessments were completed in outpatient follow-up clinics. A statistical model was developed to assess the clinical utility and possible predictive value of CC measurements for adverse short-term ND outcome, while adjusting for perinatal morbidities. PRIMARY AND SECONDARY OUTCOME MEASURES: CC size and ND status. RESULTS: Measurements of CC size did not add substantial predictive power to predict short-term ND outcome beyond the information provided by the presence of morbidities related to prematurity. CONCLUSIONS: No association was found between morbidities related to prematurity and short-term ND outcome and CC size in preterm infants. CC measurements in HUS early in life did not have an additional value in predicting short-term ND outcome, therefore did not seem to provide further clinical utility.

Hirschsprung disease presenting as sigmoid volvulus: a case report and review of the literature.

While sigmoid volvulus is commonly seen in older patients, it is rarely encountered in children and younger adults. Consequently, heightened awareness of this entity is required to avoid a delay in diagnosis. Among the pediatric and adult cases of colonic volvulus previously reported in the English literature, 23 of the affected individuals have also been diagnosed with Hirschsprung disease (HD). This report describes a 12-year-old male with a history of chronic constipation who presented with vomiting and abdominal distension and was found to have sigmoid volvulus with previously unrecognized HD. The case presentation is followed by a review of the literature describing colonic volvulus secondary to HD in children.

An unusual fibrohistiocytic lesion of the pelvis presenting as vaginal bleeding in a prepubertal female: a clinical, pathological, and immunohistochemical study.

We report a case of a 5-year-old female who presented with vaginal bleeding of unexplained etiology. There was no evidence of precocious puberty by history and physical examination. Endocrine laboratory studies were in the normal range for a prepubertal female. On vaginoscopy, a friable, granulomatous mass that bled easily was discovered within the vaginal vault. Pelvic sonography and magnetic resonance imaging of the pelvis was significant for a left adnexal mass. Surgical exploration and histological analysis revealed an unusual fibrohistiocytic proliferation. This unusual case broadens the differential diagnosis for vaginal bleeding in the prepubertal child (Table1).