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 characteristic facies. Repeated consultations revealed mild pulmonary stenosis and bilateral embriotoxon.

Case 2: 9-month old baby girl who was admitted to our department due to the lack of appetite and weight stagnation. Her slightly elevated hepatic enzyme levels, low prothrombin level and dysmorphic facial features indicated Alagille syndrome. Ophthalmology consultation also uncovered bilateral embriotoxons, and butterfly vertebrae were diagnosed by X-ray.

Both of the patients suffer from an incomplete form of Alagille syndrome. Detailed genetic testing of the two patients is currently in progress.

Discussion: Clinical manifestation and symptom severity have great diversity in Alagille syndrome. Based on our experience, we would like to highlight the importance of detecting the embriotoxon, which is one of the most specific indicators. Other thing to highlight is that the diagnosis of the disorder should not be excluded in babies who have only mild hepatopathy since typical symptoms can develop with age. We also discuss whether other rare symptoms such as onycholysis might be associated with Alagille syndrome.