Alagille Syndrome Caused by NOTCH2 Mutation Presented Atypical Pathological Changes

Background: Alagille syndrome (ALGS) is a rare multisystem disorder caused by mutations in the JAG1 or NOTCH2 gene. However NOTCH2 gene mutations were rarely found in the Alagille patients. Little is known about the clinical and pathological profiles about Alagille patients with NOTCH2 mutation.

Case Report: Our case described a 16-year-old female patient manifesting as recurrent jaundice and abnormal liver function from the second week of her birth. She presented a butterfly vertebrae and typical facial features including a prominent forehead, deep-set eyes, a pointed chin, and a straight nose with bulbous tip. Pathogenic heterozygous c.5857 C > T variant in NOTCH2 gene was found. Her liver biopsy featured by a disorder liver structure with cholestasis and fibrosis in portal area, which is different from typical bile duct paucity reported in JAG1 deficient patients.

Results: A diagnosis of ALGS was made. The patient was treated with ursodeoxycholic acid and compound embryonic bovine liver extract tablets and infusion of human serum albumin to improve her clinical and pathological symptoms.

Conclusion: Since Alagille patients with NOTCH2 mutations have been rarely reported, our case will highlight the clinical and pathological profiles of these patients.