Down syndrome, typically caused by Trisomy 21, is the most common chromosomal abnormality resulting in intellectual disability affecting 1 in 600-800 pregnancies worldwide. Respiratory problems are the leading cause of hospitalizations and excess mortality in DS, accounting for 42% of admissions through age 2 years. Respiratory issues include pulmonary vascular disease, recurrent respiratory infection, sleep-disordered breathing, airway abnormalities, or subpleural cysts. Abnormalities like craniofacial anomalies, developmental delay, chronic aspiration, and hypotonia contribute to the severity of respiratory issues. Independent of congenital heart defect status, the lungs of DS children have widened alveolar ducts, and fewer and enlarged alveoli. These alveolar changes along with connective tissue abnormalities are believed to contribute to the development of subpleural cysts found in up to 20-36% of DS children. The clinical significance of these cysts is variable. It is important for radiologists to be familiar with subpleural cysts associated with DS as it may prevent misdiagnosis with other serious conditions. Additionally, subpleural cysts may increase the risk for pneumothorax or parenchymal damage during mechanical ventilation or surgery. Generally, subpleural cysts are poorly seen on radiographs and have been primarily identified using CT. We present a 5 year old male with DS, born at 36 weeks gestation, who presented to the emergency room with cough, rhinorrhea, and fever. He had no history of respiratory issues and received routine vaccinations. Chest radiograph revealed bilateral apical predominant subpleural cystic lucencies, perihilar fullness, and peribronchial cuffing. He was diagnosed with acute upper respiratory infection and discharged home with symptomatic management and outpatient follow-up. Sedated CT of the chest two weeks later had findings of diffuse bilateral subpleural and perilymphatic cysts, small subpleural calcifications, and mild scattered interlobular septal thickening. Since he did not have respiratory issues at baseline or after his illness, there was less concern for progressive disease requiring intervention and he was managed with conservative monitoring. Our case highlights the importance of recognizing pulmonary manifestations frequently associated with DS to improve disease recognition and prevention of complications. Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Bezzant Braydan, Guo Grace, Roberie Dustin

Keywords: Cystic Lung Disease

Pilomatricomas (PM), benign neoplasms of the hair follicle matrix cells, present in the pediatric population with a slight female predominance. These neoplasms are the second most commonly excised pediatric skin mass and comprise up to 10% of superficial masses evaluated by pathologists. Typically, they present as a slow growing, solitary, painless, superficial mass in the head and neck. We present a unique case of trauma preceding rapid development of an abnormally large PM. No cases with such characteristics currently exist in the literature. A preschool aged girl presented with a two-month history of an enlarging superficial scalp mass following local trauma. The parents reported that she was running, fell, and hit her head on the ground. The patient reported minor pain, discoloration and local swelling, but was otherwise well with no loss of consciousness. One week post-injury, the family noticed a persistent “mosquito-bite sized bump” at the site of scalp trauma. Over the next two months, the “bump” steadily enlarged to the size of a ping pong ball, prompting evaluation. The patient denied associated pain, itching, or drainage. Exam noted a well-appearing girl with a round, well-marginated, firm, painless 3.0 cm mass at the left frontotemporal scalp. Given the reported trauma, CT was performed and demonstrated a superficial scalp mass measuring 2.8 x 3.1 cm with internal calcifications and no underlying fracture or bony involvement. Sonographic evaluation showed a well-marginated, heterogeneous mass with a hypoechoic rim and internal doppler flow revealing spectral arterial and venous waveforms. MRI revealed a peripherally enhancing mass with foci of internal susceptibility. Core needle biopsy yielded fragments of epithelium composed of follicular matrix cells and aggregates of shadow cells. A successful surgical excision was performed yielding the final pathologic diagnosis of a PM. She had an uncomplicated postoperative course. Our case illustrates a unique case of PM, in which there was an atypical history of preceding trauma and rapid enlargement, resulting in clinical uncertainty. Unfortunately, PM’s are frequently misdiagnosed or under-considered by radiologists on initial ultrasound evaluation, despite being a common entity. Our case underscores the importance of maintaining a high suspicion for PM when evaluating a superficial mass in pediatric patients. This may reduce unnecessary and invasive procedures in the pediatric patient population. Read More

Meeting name: SPR 2023 Annual Meeting & Postgraduate Course , 2023

Authors: Wallworth Taylor, Husson Christopher, Rooks Veronica, Roberie Dustin

Keywords: Pilomatrixoma, Calcifying Epithelioma of Malherbe