A case report: Alagille syndrome.

Abstract

Alagille syndrome consists of 5 major features comprising paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects and peripheral pulmonic stenosis. The female patient in this report met 4 of the 5 major features except ocular abnormality. The first clinical presentations were prolonged jaundice and generalized ecchymoses. She was treated by plasma replacement and vitamin supplement, particularly vitamin K1, which produced clinical improvement. This report also reviews the literature of Alagille syndrome.

• Authors: N Ukarapol, L Wongsawasdi, R Sittiwangkul
• Journal: Journal of the Medical Association of Thailand = Chotmaihet thangphaet (J Med Assoc Thai) Vol. 83 Issue 4 Pg. 451-4 (Apr 2000) ISSN: 0125-2208 [Print] Thailand
• PMID: 10808707 (Publication Type: Case Reports, Journal Article)

Topics

• Alagille Syndrome (diagnosis, therapy)
• Female
• Humans
• Infant
• Prognosis
• Risk Assessment