Myopericytoma in an Infant-Imaging Characteristics of a Rare but Benign Entity.

Teaching point: Myopericytoma is a rare soft tissue tumor but should be considered in the differential diagnosis of infants with a fast-growing perivascular tumor.

Peripheral precocious puberty in Li-Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors.

INTRODUCTION: Pure androgen-secreting adrenocortical tumors are a rare but important cause of peripheral precocious puberty. CASE PRESENTATION: Here, we report a pure androgen-secreting adrenocortical tumor in a 2.5-year-old boy presenting with penile enlargement, pubic hair, frequent erections, and rapid linear growth. We confirmed the diagnosis through laboratory tests, medical imaging, and histology. Furthermore, genetic testing detected a pathogenic germline variant in the TP53 gene, molecularly confirming underlying Li-Fraumeni syndrome. DISCUSSION: Only 15 well-documented cases of pure androgen-secreting adrenocortical tumors have been reported so far. No clinical or imaging signs were identified to differentiate adenomas from carcinomas, and no other cases of Li-Fraumeni syndrome were diagnosed in the four patients that underwent genetic testing. However, diagnosing Li-Fraumeni syndrome is important as it implies a need for intensive tumor surveillance and avoidance of ionizing radiation. CONCLUSION: In this article, we emphasize the need to screen for TP53 gene variants in children with androgen-producing adrenal adenomas and report an association with arterial hypertension.

Guidance for computed tomography (CT) imaging of the lungs for patients with cystic fibrosis (CF) in research studies.

Numerous issues must be addressed when developing standard operating procedures for clinical research studies involving chest computed tomography of lung disease in patients with cystic fibrosis (CF). Study success depends on the provision of adequate funding and the identification of personnel with the necessary expertise to conduct the study, along with clear guidelines that detail the CT operating procedure at each site, including breathing maneuvers, and image reconstruction. Close coordination of the quality assurance process between sites and the central review organization is required to maintain protocol adherence. The data transfer process must ensure the integrity and security of the data to comply with patient privacy regulations, and study outcome measures are best assessed with a scoring system or other structured method of imaging data analysis. The recommendations provided are designed to serve as a valuable reference guide for planning clinical research studies of patients with CF involving chest CT.

The quantitative link of lung clearance index to bronchial segments affected by bronchiectasis.

In adult patients with cystic fibrosis (CF), the lung clearance index (LCI) derived from the multiple breath washout relates to both acinar and conductive ventilation heterogeneity. The latter component predicts an association between LCI and the number of bronchial segments affected by bronchiectasis. Here, we experimentally demonstrated this association in patients with CF, and also examined an ancillary group of patients with non-CF bronchiectasis. We conclude that lung disease severity in terms of number of bronchial segments results in an associated LCI increase, likely constituting a portion of LCI that cannot be reversed by treatment in patients with CF lung disease.

Pulmonary disease in cystic fibrosis: assessment with chest CT at chest radiography dose levels.

PURPOSE: To investigate a computed tomographic (CT) protocol with iterative reconstruction at conventional radiography dose levels for the assessment of structural lung abnormalities in patients with cystic fibrosis ( CF cystic fibrosis ). MATERIALS AND METHODS: In this institutional review board-approved study, 38 patients with CF cystic fibrosis (age range, 6-58 years; 21 patients <18 years and 17 patients >18 years) underwent investigative CT (at minimal exposure settings combined with iterative reconstruction) as a replacement of yearly follow-up posteroanterior chest radiography. Verbal informed consent was obtained from all patients or their parents. CT images were randomized and rated independently by two radiologists with use of the Bhalla scoring system. In addition, mosaic perfusion was evaluated. As reference, the previous available conventional chest CT scan was used. Differences in Bhalla scores were assessed with the χ(2) test and intraclass correlation coefficients ( ICC intraclass correlation coefficient s). Radiation doses for CT and radiography were assessed for adults (>18 years) and children (<18 years) separately by using technical dose descriptors and estimated effective dose. Differences in dose were assessed with the Mann-Whitney U test. RESULTS: The median effective dose for the investigative protocol was 0.04 mSv (95% confidence interval [ CI confidence interval ]: 0.034 mSv, 0.10 mSv) for children and 0.05 mSv (95% CI confidence interval : 0.04 mSv, 0.08 mSv) for adults. These doses were much lower than those with conventional CT (median: 0.52 mSv [95% CI confidence interval : 0.31 mSv, 3.90 mSv] for children and 1.12 mSv [95% CI confidence interval : 0.57 mSv, 3.15 mSv] for adults) and of the same order of magnitude as those for conventional radiography (median: 0.012 mSv [95% CI confidence interval : 0.006 mSv, 0.022 mSv] for children and 0.012 mSv [95% CI confidence interval : 0.005 mSv, 0.031 mSv] for adults). All images were rated at least as diagnostically acceptable. Very good agreement was found in overall Bhalla score ( ICC intraclass correlation coefficient , 0.96) with regard to the severity of bronchiectasis ( ICC intraclass correlation coefficient , 0.87) and sacculations and abscesses ( ICC intraclass correlation coefficient , 0.84). Interobserver agreement was excellent ( ICC intraclass correlation coefficient , 0.86-1). CONCLUSION: For patients with CF cystic fibrosis , a dedicated chest CT protocol can replace the two yearly follow-up chest radiographic examinations without major dose penalty and with similar diagnostic quality compared with conventional CT.

A rare cause of dyspnea due to chylothorax.

We report the case of an 8-year-old boy who presented to the emergency department of another hospital and was referred to our pediatric intensive care unit with dyspnea and tachypnea of recent onset. The diagnosis of massive chylothorax with mediastinal shift was made on chest radiographs and CT scan. Initial investigations revealed no definite cause for the chylothorax. On later radiography and CT imaging with 3D surface rendering, a marked bone loss of the left ribs, clavicle, and shoulder joint was shown. The diagnosis of Gorham-Stout disease associated with chylothorax was suspected and histologically confirmed.