The Alagille syndrome – Case studies

Last year we diagnosed two cases of the very rare Alagille syndrome. The disorder is autosomal dominantly inherited. Classic symptoms are cholestasis, characteristic facies, posterior embriotoxon, congenital heart defect and butterfly vertebrae. Aim: To present the diagnostic challenges of Alagille syndrome. Cases: Case 1: 6-year old girl who has been followed-up since the age of two months because of slightly elevated hepatic enzyme levels. The clinical tests and the consultations with a cardiologist and an ophthalmologist did not confirm the diagnosis at that time. During the follow-up period she developed the…