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Phace Syndrome in Children: Two Case Reports.

Kaoutar Imrani¹, Siham El Haddad¹, Nazik Allali¹

¹Radiology department, Pediatric teaching hospital-Mohammed V University-Rabat-Morocco, Rabat, Morocco.

Radiology Case Reports

|October 27, 2021

Summary

PHACE(S) syndrome is a rare condition affecting brain, heart, and facial development. Early diagnosis via imaging is crucial for managing associated neurological and cardiovascular risks in infants.

Keywords:

Children Imaging Phace

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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.