Adult William's Syndrome: The Cause of an Unusual Vasculopathy and Biliary Abnormalities

Philip A Craven; Victor Wycoco; David Prentice

doi:10.7759/cureus.47695

Adult William's Syndrome: The Cause of an Unusual Vasculopathy and Biliary Abnormalities

Cureus. 2023 Oct 25;15(10):e47695. doi: 10.7759/cureus.47695. eCollection 2023 Oct.

Authors

Philip A Craven¹, Victor Wycoco², David Prentice³

Affiliations

¹ Gastroenterology and Hepatology, Royal Perth Hospital, Perth, AUS.
² Radiology, The Neurological Intervention & Imaging Service of Western Australia (NIISWA), Perth, AUS.
³ Neurosciences, Perron Institute for Neurological and Translational Science, Nedlands, AUS.

Abstract

A man in his 50s was diagnosed with William's syndrome (WS) following the investigation of severe vasculopathy and bile duct abnormalities. The vascular lesions included: right carotid artery hypoplasia, tortuous dilated left carotid artery, severe aortic hypoplasia, and pulmonary branch arterial stenoses. The bile ducts were dilated with damaged and inflamed intrahepatic ducts. The patient had been labeled with fetal alcohol syndrome as a consequence of his mother's alcohol addiction. The etiology is thought to be the combined effects and his genetic condition and prenatal alcohol exposure.

Keywords: alagille syndrome; fetal alcohol spectrum disorder; genetic syndromes; hepatology; william's syndrome.

Publication types

Case Reports