Frey syndrome-like developmental dysautonomia in a child with PHACE syndrome

Area of Science:

• Pediatric Neurology
• Vascular Malformations
• Developmental Biology

Background:

• PHACE syndrome is characterized by infantile hemangiomas and associated structural/vascular anomalies.
• Deep periorbital infantile hemangiomas can cause ptosis and be indicative of PHACE syndrome.
• Frey syndrome involves facial flushing and sweating, typically post-parotid surgery.

Purpose of the Study:

• To report a case of PHACE syndrome with a subtle deep periorbital infantile hemangioma.
• To describe a novel association of PHACE syndrome with Frey syndrome-like symptoms.
• To suggest a potential shared defect in neurovascular embryogenesis.

Main Methods:

• Clinical case evaluation of an infant presenting with ptosis.
• Magnetic Resonance Imaging (MRI) to assess infantile hemangioma and vascular structures.
• Observation of clinical symptoms including facial erythema and triggers.

Main Results:

• A deep right periorbital infantile hemangioma was identified, leading to ptosis.
• MRI revealed hypoplasia of the right common carotid and internal carotid arteries, supporting PHACE syndrome.
• The infant developed transient, acute-onset facial erythema triggered by feeding and stress, resembling Frey syndrome.

Conclusions:

• Subtle deep infantile hemangiomas can be associated with PHACE syndrome.
• Frey syndrome-like dysautonomia may be a previously unreported manifestation of PHACE syndrome.
• This association suggests a potential common underlying defect in neurovascular development.