Williams syndrome | Figure 1

CincyKidsRad

Cincinnati Children's Radiology

Williams syndrome

CT images from a contrast-enhanced CT of the chest show multiple features of Williams syndrome with stenosis of segmental pulmonary arteries (small arrow), tortuous peripheral pulmonary arteries (arrow), and tortuous pulmonary veins. Williams syndrome is a multisystem disorder manifesting with supravalvular aortic stenosis, developmental delay and connective tissue disorders.

Similar cases

evaluating 61yo female with cardiac issue. What is the differential diagnosis? She has pulmonary valve stenosis and/or regurgitation with poststenotic dilation. Evidence of large pulmonary artery in ax T1 and sag snapshot (arrow). Valve stenosis corroborated on sag snapshot (arrows). Most other congenital anomalies are unlikely because she is 61 except for ASD.

Follow up to last chest X-ray - that showed #Bronchiectasis. This CT shows dilated airways and the signet ring sign (red arrow) - the airway accompanying a pulmonary arterial branch should be the same diameter but in #Bronchiectasis, the airway is wider. The underlying disorder is #Cystic-fibrosis.

Coronal maximum intensity projection (image 1) and source images (image 2) from an abdominal MR angiogram show a focal area of stenosis of the mid abdominal aorta. Mid aortic syndrome can involve the renal and blank neck branches of the aorta. The syndrome is associated with entities such as Williams syndrome, tachycardia osteoarthritis, neurofibromatosis type I, and Allagile syndrome. Because the renal arteries are commonly affected, hypertension is the most common presenting symptom.

Axial contrast enhanced CT shows a large pulmonary embolism (arrow) saddling the bifurcation of the pulmonary arteries. Pulmonary embolism is uncommon in children but can occur as a result of orthopedic surgery, blood clotting disorders, obesity, oral contraceptives, and prior blood clots.