Unusual Coarctation—the PHACE Syndrome: Report of Three Cases

Abstract

PHACE syndrome should be considered in the differential diagnosis of aortic coarctation associated with aortic arch hypoplasia.

Corkscrew aortic arch in PHACES syndrome: Multimodal imaging of an unusual morphology of tortuous aortic arch in a rare but well-defined syndrome

“…[23] This diffuse aortocraniocerebral vasculopathy results from abnormal neural crest cell migration and peculiarly common in females. [17]…”

A case of neurocutaneous syndrome associated with facial hemangioma: PHACE syndrome

“…Luo et al [3] observed neurologic deficits in four of eight patients with PHACE syndrome and suggested that some patients may develop progressive arterial occlusive disease, cerebral infarction, and aneurysm with subsequent rupture [4][5][6]. Because of this, pediatricians must be aware of PHACE syndrome and carefully search for additional brain anomalies in patients referred for facial hemangiomas with neuroimaging of the brain.…”

“…606519) is a neurocutaneous syndrome that comprises of posterior fossa brain malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, eye anomalies, and ventral developmental defects, specifically sternal defects and/or supraumbilical raphe [1]. The cardinal finding of PHACE syndrome is the posterior fossa anomalies and facial hemangiomas [1][2][3][4][5][6]. It is important to distinguish between Sturge-Weber syndrome and PHACE syndrome.…”

Postmortem Vascular Pathology in PHACES Syndrome: A Case Report

“…We found one case report [10] of the death of a 5-year-old girl with PHACES from multiple cerebral infarctions. Another case report [11] described the death of a 15-year-old female in the postoperative period of her tetralogy and coarctation repairs. In our case, the patient died from acute aortic rupture due to suppurative mural necrosis, likely secondary to bacterial seeding of the stented aorta.…”