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

Abstract excerpt

BACKGROUND: 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. CASE PRESENTATION: A 5-year-old male presented with a severe headache and was diagnosed with intracerebral and subarachnoid hemorrhage caused...

Topics

• Humans
• Alagille Syndrome
• Male
• Intracranial Aneurysm
• Child, Preschool
• Phenotype