Phenotypic characteristics and clinical management of Alagille syndrome with multiple intracranial aneurysms: a case report and literature review.

Authors

Yu Wang, Yangyang Sun, Zhenxing Yang, Jinlong Chen, Ding Wan, Dejun Huang

Published in

The Turkish journal of pediatrics. Volume 68. Issue 4. Pages 680-688. Sep 11, 2026. Epub Sep 11, 2026.

Abstract

Alagille syndrome (ALGS) is an autosomal dominant multisystem developmental disorder associated with JAG1 and NOTCH2 mutations. Although vascular involvement is recognized, life-threatening intracranial hemorrhage as the initial presentation is extremely rare.
A 5-year-old male presented with a severe headache and was diagnosed with intracerebral and subarachnoid hemorrhage caused by multiple ruptured intracranial aneurysms. Genetic testing confirmed a pathogenic JAG1 mutation, establishing the diagnosis of ALGS. The patient, who had known aortic stenosis, developed infective endocarditis-raising the possibility that infection was driving the aneurysms. After two microsurgical craniotomies, he ultimately died of multi-organ failure.
This case highlights a rare presentation of ALGS involving acute rupture of multiple intracranial aneurysms, complicated by cardiac malformation and infective endocarditis, with newly formed aneurysms highly suspected to be infection-driven. ALGS should be considered in young children presenting with early intracranial hemorrhage, particularly when cardiac anomalies coexist. Early multidisciplinary intervention may prevent the catastrophic sequelae of ALGS-associated intracranial aneurysms.

PMID:
42777203
Bibliographic data and abstract were imported from PubMed on 24 Sep 2026.

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