Phace Syndrome in Children: Two Case Reports

Area of Science:

• Pediatric Neurology
• Medical Genetics
• Developmental Biology

Background:

• PHACE(S) syndrome is a complex disorder characterized by posterior fossa brain malformations, facial hemangiomas, arterial cerebrovascular anomalies, cardiovascular defects, eye abnormalities, and sternal or supra-umbilical raphe defects.
• Diagnosis relies on specific criteria, including large infantile hemangiomas and associated major or minor malformations.

Observation:

• This report details two pediatric cases of PHACE(S) syndrome.
• The cases presented with distinct clinical manifestations, highlighting the varied presentation of the syndrome.

Findings:

• Diagnostic imaging, including Gadolinium MRI, MRA of the brain and neck, and echocardiography, is essential for identifying the neurological and cardiovascular abnormalities characteristic of PHACE(S) syndrome.
• The two cases underscore the importance of recognizing the spectrum of clinical presentations.

Implications:

• Prompt and accurate diagnosis of PHACE(S) syndrome through advanced imaging is vital for timely intervention.
• Understanding the diverse clinical presentations aids in early detection and management of associated risks, improving patient outcomes.