A case of 2 siblings with Alagille syndrome (ALGS) was presented by a team from the Sestre Milosrdnice University Hospital Center in Zagreb, Croatia.

“The natural evolution of the disease is favorable if liver transplantation is avoided until reaching school age. In both our patients, despite severe liver disease, psychosomatic development and quality of life remained intact,” they wrote in an abstract published in the Archives of Disease in Childhood.

The siblings were a 13-year-old female and a 7-year-old male. They were both diagnosed with ALGS during infancy.

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At the age of 7 weeks, the older sibling presented with jaundice, a history of acholic stools, and dark urine. The clinical investigation confirmed cholestasis with elevated liver enzymes, bile acids, alpha-fetoprotein (AFP), and 5’-nucleotidase. The episode was managed with ursodeoxicolic acid (UDCA) and phenobarbitone.

ALGS was suspected due to dysmorphic facial features, including a prominent forehead, broad nasal bridge, triangular facies, and deep-set eyes. The diagnosis was established following the determination of posterior embryotoxon and peripheral pulmonary stenosis. Three years later, the diagnosis of ALGS was further confirmed by the observation of the presence of bile ducts at liver biopsy.

The younger sibling presented with a typical ALGS phenotype and intrahepatic cholestasis in the neonatal period. He also showed peripheral pulmonary stenosis, posterior embryotoxon, and butterfly vertebrae. At the age of 3 years he had signs of hepatic encephalopathy at brain magnetic resonance imaging (MRI) scans, but no vascular abnormalities.

During preschool years, both siblings experienced severe cholestatic liver disease, which was treated with conservative treatment for pruritus and malabsorption. The episode was stabilized by school age.

In addition, both siblings had severe hypercholesterolemia, but it was worse in the youngest. He had extremely high levels of low-density lipoprotein (LDL, up to 30,1 mmol/L) and also bile acids (634,4 umol/L). Treatment included chronic use of UDCA, fat-soluble vitamins, and medium-chain triglycerides (MCT) with a hypercaloric diet.

The abstract was presented at the 10th Europediatrics Congress held Oct. 7-9, 2021, in Zagreb, Croatia.


Ćuk MC, Perše B, Matijević P, Žaja O. 248 A longterm follow-up of two siblings with Alagille syndrome. Archives of Disease in Childhood. 2021;106(Suppl 2):A104-A105. doi:10.1136/archdischild-2021-europaediatrics.248