Laryngeal xanthomas in alagille syndrome: A new physical finding?

SummaryAlagille syndrome (AGS) is a rare autosomal dominant disorder characterized by bile duct paucity, often with associated liver failure. Common characteristics of AGS include cholestasis with pruritus, peculiar facies, cardiovascular defects, jaundice, embryotoxon, vertebral abnormalities, and cutaneous xanthomas. The case history is presented of a 2.5-year-old female with AGS status post-orthotopic liver transplantation and stertorous breathing. Flexible laryngoscopy and bronchoscopy revealed adenoid hypertrophy along with laryngeal xanthomas. The previously undocumented finding of laryngeal xanthomas in AGS is discussed along with possible etiologies and complications.