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Persistent stapedial artery in PHACE syndrome.
R Quatre1, P Manipoud2, S Schmerber3
1Clinique universitaire d'oto-rhino-laryngologie et de chirurgie cervico-faciale, pôle PALCROS, CHU de Grenoble, hôpital Nord, Grenoble cedex 9 CS 10217, France; Pôle médecine, université Grenoble Alpes, domaine de la Merci, La Tronche 38700, France; Service d'oto-rhino-laryngologie et de chirurgie cervico-faciale, centre hospitalier Métropole Savoie, Chambéry 73000, France.
Summary
PHACE syndrome can involve persistent stapedial artery, a rare arterial anomaly. Early hearing tests are crucial for children with PHACE syndrome to prevent speech and language delays.
Area of Science:
- Vascular anomalies
- Pediatric genetics
- Craniofacial abnormalities
Background:
- PHACE syndrome is a complex disorder involving multiple congenital anomalies.
- Key features include posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and eye abnormalities.
Observation:
- A 6-year-old girl with PHACE syndrome and left hemifacial hemangioma presented with hearing loss.
- A computed tomography scan revealed a left persistent stapedial artery (PSA).
Findings:
- Persistent stapedial artery (PSA) is an uncommon embryonic artery remnant.
- PSA can be associated with PHACE syndrome, representing one type of arterial anomaly.
Implications:
- This case highlights PSA as a potential vascular anomaly within PHACE syndrome.
- Regular audiometric screening is essential for early detection of hearing loss in PHACE patients.
- Prompt management of hearing loss is critical to mitigate impacts on speech and language development.
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