Ramos Jennifer,  Squires Judy

Final Pr. ID: Poster #: EDU-085

Pneumomediastinum is a radiological finding that may be seen following thoracic trauma, yet its importance and follow-up imaging recommendations are not standardized. Additionally, there is limited evidence linking traumatic pneumomediastinum to injury that will require treatment.

To evaluate the rate of the positivity of esophagrams performed for post-traumatic pneumomediastinum and to determine the appropriate investigative procedures needed. Read More

Authors:  Ramos Jennifer , Squires Judy

Keywords:  Pneumomediastinum, Esophagram, Chest Computed Tomography (CT)

Zember Jonathan,  Turkbey Evrim,  Bulas Dorothy,  Bost James,  Liang Jason,  Rubenstein Kevin,  Gould Nicholas,  Montealegre Sanchez Gina,  Barron Karyl,  Debiasi Roberta,  Delaney Meghan,  Arrigoni Lauren,  Wessel David,  Notarangelo Luigi

Final Pr. ID: Poster #: SCI-042

The radiologic findings of SARS-CoV-2 infection have been well described in the literature over the past several years. Although the myriads of acute disease processes have also been extensively documented, the long-term complications of SARS-CoV-2 infection and multisystem inflammatory syndrome in children (MIS-C) are unknown, including conditions carrying potentially significant morbidity, such as pediatric post-acute sequelae of COVID-19 (PASC). This study establishes a prospective, longitudinal cohort of SARS-CoV-2 infected individuals versus uninfected controls to characterize long-term outcomes following pediatric SARS-CoV-2 infection, including cardiopulmonary imaging evaluation with chest radiography (CXR) or chest computed tomography (CT). This study was funded by the National Institute of Allergy and Infectious Diseases (NIAID), NIH. Read More

Authors:  Zember Jonathan , Turkbey Evrim , Bulas Dorothy , Bost James , Liang Jason , Rubenstein Kevin , Gould Nicholas , Montealegre Sanchez Gina , Barron Karyl , Debiasi Roberta , Delaney Meghan , Arrigoni Lauren , Wessel David , Notarangelo Luigi

Keywords:  Chest Computed Tomography (CT), Chest, Infection

Hwang James,  Chen Danling,  Kuehne Alexander,  Benyakoub Amine,  Tu Long,  Lisse Sean,  Ehrlich Lauren

Final Pr. ID: Poster #: CR-061

Filamin A (FLNA) is a widely expressed X-linked dominant gene that encodes Filamin A, a protein that crosslinks actin filaments and plays a crucial role in the structure of the cell cytoskeleton. With such a broad role, FLNA mutations are especially consequential and can result in cardiovascular malformations, intellectual disability, skeletal dysplasia, and neuronal migration abnormalities. Additionally, recent literature has linked FLNA mutation to pediatric-onset interstitial lung disease.
A three-month-old female with a history of atrial septal defect, patent ductus arteriosus, pulmonary valve dysplasia, micrognathia, and recent hospitalization for parainfluenza infection causing respiratory failure presented to the emergency department with worsening hypoxemia and respiratory distress. Initial chest radiograph demonstrated an interval increase in bilateral patchy opacifications suggestive of worsening multifocal infection. The patient was subsequently admitted. The patient’s clinical status failed to improve after multiple days of admission. A non-contrast CT study of the chest revealed multiple regions of air trapping, atelectasis, coarsened interstitial markings, and diffuse septal thickening, differential diagnosis included interstitial lung disease versus congenital alveolar abnormality. Of note, MR imaging of the brain obtained showed diffuse nodularity along the subependymal lining of the lateral ventricles and temporal horns, compatible with gray matter heterotopia. This prompted genetic testing which revealed Filamin A deficiency.
Filamin A mutation typically presents radiographically with hyperinflation of the lungs with scattered atelectasis, which can be complicated by concomitant pneumonia. This appearance can mimic pulmonary emphysema and bronchopulmonary dysplasia. Cardiac anomalies are a common manifestation of the mutation; notably, our patient had a history of a dysplastic pulmonary valve, ASD and PDA. CT imaging patterns vary and can present as a combination of cystic and diffuse ground-glass changes, hyperinflation, and emphysema. After extensive consultation, our patient transitioned to palliative care and ultimately passed away at 5 months of age. Maintaining a high index of suspicion for this rare but important entity is crucial to accurately diagnosing this inherited mutation, treating affected patients appropriately, and providing patients and their families with essential information regarding prognosis and inheritance patterns. Read More

Authors:  Hwang James , Chen Danling , Kuehne Alexander , Benyakoub Amine , Tu Long , Lisse Sean , Ehrlich Lauren

Keywords:  Interstitial Lung Disease, Genetics, Chest Computed Tomography (CT)