Soper R, Chaloupka J C, Fayad P B, Greally J M, Shaywitz B A, Awad I A, Pober B R
Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
J Pediatr. 1995 Jun;126(6):945-8. doi: 10.1016/s0022-3476(95)70217-2.
We describe an otherwise healthy 2-year-old patient with Williams syndrome who had a stroke as a result of intracranial multivessel focal and segmental stenotic disease. The diagnosis of Williams syndrome was confirmed by elastin gene deletion testing. Combined magnetic resonance imaging and magnetic resonance angiography, and transcranial Doppler flow studies, were used in diagnosing and monitoring the course of the disease.
