Scrotal fibrous hamartoma of infancy: A case report and literature review of a rare tumor of the genitourinary tract.

Fibrous hamartoma of infancy (FHI) is a rare, benign soft tissue lesion observed in infants characterized histologically by triphasic appearance of bland fibroblastic fascicles, mature adipose tissue, and nodules of primitive myxoid mesenchyme. Preoperative and intraoperative recognition of FHI presents a significant diagnostic challenge due to nonspecific imaging findings and its histologic similarities to alternate benign and malignant entities. Management requires complete local excision and clinical follow-up to monitor for recurrence. Here, we present the diagnosis, management, and two-year follow-up of a 13-month-old boy with a scrotal FHI in addition to a comprehensive literature review of this entity.

High-resolution three­dimensional contrast­enhanced magnetic resonance venography in children: comparison of gadofosveset trisodium with ferumoxytol.

BACKGROUND: Gadofosveset is a gadolinium-based blood pool contrast agent that was approved by the United States Food and Drug Administration in 2008. Its unanticipated withdrawal from production in 2016 created a void in the blood pool agent inventory and highlighted the need for an alternative agent with comparable imaging properties. OBJECTIVE: The purpose of our study is to compare the diagnostic image quality, vascular contrast-to-noise ratio (CNR) and temporal signal characteristics of gadofosveset trisodium and ferumoxytol at similar molar doses for high-resolution, three-dimensional (3-D) magnetic resonance (MR) venography in children. MATERIALS AND METHODS: The medical records and imaging data sets of patients who underwent high-resolution 3-D gadofosveset-enhanced MR venography (GE-MRV) or ferumoxytol-enhanced MR venography (FE-MRV) were retrospectively reviewed. Two groups of 20 pediatric patients (age- and weight-matched with one patient common to both groups; age range: 2 days-15 years) who underwent high-resolution 3-D GE-MRV or FE-MRV at similar molar doses were identified and analyzed. Qualitative analysis of image quality and vessel definition was performed by two blinded pediatric radiologists. Interobserver agreement was assessed with the AC1 (first-order agreement coefficient) statistic. Signal-to-noise ratio (SNR) and CNR of the inferior vena cava and aorta were measured in the steady-state venous phase. Medical records were retrospectively reviewed for any adverse reactions associated with either contrast agent. RESULTS: Measured SNR and CNR of the inferior vena cava were higher for FE-MRV than GE-MRV (P = 0.034 and P < 0.001, respectively). The overall image quality score and individual vessel scores of FE-MRV were equal to or greater than GE-MRV (P = 0.084), with good interobserver agreement (AC1 = 0.657). The venous signal on FE-MRV was stable over the longest interval measured (1 h, 13 min and 46 s), whereas venous signal on GE-MRV showed more variability and earlier loss of signal. No adverse reactions were noted in any patient with either contrast agent. CONCLUSION: Ferumoxytol produces more uniform and stable enhancement throughout the entire venous circulation in children than gadofosveset, offering a wider time window for optimal image acquisition. FE-MRV offers a near-ideal approach to high-resolution venography in children at all levels of anatomical complexity.

Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis.

Pediatric diverticular disease is extremely rare, with most cases associated with connective tissue disorders. We report an adolescent boy with syndromic features who presented with acute complicated sigmoid diverticulitis. Clinical exome sequencing analysis detected a 6.5-Mb region of homozygosity on chromosome 14, consistent with partial maternal uniparental disomy. Analysis of this region did not identify rare homozygous variants but included several imprinted genes that were candidates for the observed phenotypes. The pediatric clinical presentation of diverticulosis in this patient has not been previously described in maternal uniparental disomy of chromosome 14 and adds to the phenotypic spectrum of the syndrome.

Thyroid Dysfunction in Children Exposed to Iodinated Contrast Media.

CONTEXT: Iodinated contrast media (ICM) is routinely used in imaging studies and contains several 100-fold the recommended daily allowance of iodine. OBJECTIVE: To determine whether children exposed to ICM have a higher risk of iodine-induced thyroid dysfunction. DESIGN: This was a single-institution case-control study, examining patients with incident thyroid dysfunction aged less than 18 years from 2001 to 2015. Cases were matched 1:1 to euthyroid controls by age, sex, and race. SETTING: This was a single-institution case-control study occurring at tertiary care center. PARTICIPANTS: Cases were defined as those with thyroid dysfunction (by International Classification of Diseases, Ninth Revision diagnosis codes and/or 2 consecutive abnormal serum TSH values <6 mo apart). We analyzed 870 cases matched to 870 controls (64% female, 51% White). MAIN OUTCOMES MEASURES: Using conditional logistic regression, the association between ICM exposure and the primary outcome, thyroid dysfunction, occurring within 2 years of exposure was assessed. RESULTS: Sixty-nine patients received ICM, including 53 (6%) among cases and 16 (2%) among controls. The risk of incident hypothyroidism was significantly higher after ICM exposure (odds ratio 2.60; 95% confidence interval, 1.43-4.72; P < .01). The median interval between exposure and onset of hypothyroidism was 10.8 months (interquartile range, 6.6-17.9). In hypothyroid cases, the median serum TSH concentration was 6.5 mIU/L (interquartile range, 5.8-9.6). CONCLUSIONS: ICM exposure increases the risk of incident hypothyroidism in pediatric patients. Children receiving ICM should be monitored for iodine-induced thyroid dysfunction, particularly during the first year after exposure.