A case report: Alagille syndrome.
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.
Ukarapol
N
N
Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Thailand.
Wongsawasdi
L
L
Sittiwangkul
R
R
D016738:Alagille Syndrome / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant; D011379:Prognosis; D018570:Risk Assessment