The importance of FDG PET/CT in the diagnostic process of the middle aortic syndrome in a 15-year-old boy patient with suspected systemic vasculitis and final diagnosis of Williams–Beuren syndrome

Abstract

The differential diagnosis in children with the systemic vasculopathy is still a challenge for clinicians. The progress in vascular imaging and the latest recommendations improve the diagnostic process, but only single reports describe the use of new imaging tests in children. The publication aims to demonstrate the important role of 18F-fluoro-2-deoxy-d-glucose (FDG) positron emission tomography combined with anatomical computed tomography angiography (PET/CTA) imaging in the case of a 15-year-old boy with chest pain, intermittent claudication, hypertension and features of middle aortic syndrome in computed tomography angiography (CTA). The patient was suspected to have Takayasu arteritis, but was finally diagnosed with Williams-Beuren syndrome. The case indicates that the FDG PET/CT imaging might be essential in the diagnostic process of middle aortic syndrome in children. We suggest that this imaging technique should be considered in the diagnostic process of systemic vasculopathy particularly in children.

Mid-Aortic Syndrome in Williams-Beuren Syndrome with an Atypical Small-Sized Deletion of Chromosome 7q11.23 Misdiagnosed as Takayasu Arteritis

“…Violetta, et al previously reported a case of MAS due to WBS, which was firstly misdiagnosed as systemic vasculitis. 11) However, there are several differences between their case and the present case. For example, our patient was asymptomatic and had no typical facial dysmorphism and structural heart disease suggesting WBS.…”