PHACE syndrome: a systematic literature review and illustrative case report of a patient with severe cerebrovascular and neurodevelopmental sequelae.
Martina Gnazzo, Laura Caiazza, Caterina Sirocchi et al.
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Case in brief
A 12-year-old girl with PHACE syndrome presented with a left V1-distribution facial hemangioma and significant cerebrovascular complications, including neonatal intraventricular hemorrhage, hydrocephalus, and a dural arteriovenous fistula. These issues led to ataxic cerebral palsy and mild intellectual disability. The case highlights the severe neurodevelopmental and cerebrovascular sequelae associated with PHACE syndrome.
What made this case unusual
The case exemplifies an unusually severe cerebrovascular phenotype, including neonatal hemorrhagic hydrocephalus and a late-developing dural arteriovenous fistula.
Diagnostic / clinical pearl
Clinicians should be aware that cerebrovascular complications in PHACE syndrome can develop years after initial diagnosis, necessitating ongoing surveillance.
Why it matters
This case emphasizes the importance of long-term follow-up and neuroradiological monitoring in patients with PHACE syndrome to manage evolving complications.