PHACES syndrome with congenital hypothyroidism

Area of Science:

• Medical Genetics
• Pediatric Neurology
• Neonatology

Background:

• PHACE syndrome is a complex multisystem disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and other cardiac defects, eye abnormalities, and sternal clefting or supraumbilical raphe.
• While facial hemangiomas are common in PHACE syndrome, the co-occurrence with a Dandy-Walker cyst, especially when detected antenatally, is rare.

Observation:

• A 20-day-old neonate presented with a significant facial hemangioma.
• Imaging revealed a Dandy-Walker cyst, which had been identified during prenatal screening.
• The neonate also exhibited congenital hypothyroidism, a comorbidity rarely associated with PHACE syndrome.

Findings:

• The case highlights an unusual presentation of PHACE syndrome with antenatally detected Dandy-Walker cyst and congenital hypothyroidism.
• This presentation expands the known spectrum of anomalies associated with PHACE syndrome.

Implications:

• Early and accurate diagnosis of PHACE syndrome is crucial for timely intervention and management of associated anomalies.
• This case underscores the importance of considering rare presentations and associated comorbidities in neonates with facial hemangiomas.
• Further research into the genetic and developmental pathways underlying PHACE syndrome may elucidate the mechanisms behind these rare associations.