Phace syndrome: case report

*Correspondence: [e-mail].

Abstract

Case Presentation: The PHACE Syndrome is a disease characterized by alterations of the posterior fossa, cervicofacial hemangioma, arterial anomalies, cardiac defects, ocular alterations, sternal or abdominal cleft or ectopia cordis. There is an incidence of 1: 1,000,000 and its prevalence is higher in the Caucasian and Hispanic population with a predominance among women compared to men with a ratio of (9:1).

Discussion: The child, a 6-month-old infant, was admitted to the HCSA in POA- RS. She already has a neonatal diagnosis of congenital heart disease associated with facial hemangioma, but the possibility of PHACE Syndrome had never been suggested. After clinical investigation and discussion of the case with a multidisciplinary team, including radiology and ophthalmology, a diagnosis compatible with PHACE syndrome was considered, since in addition to the parietotemporal hemangioma on the left, it presented heart disease affecting the ventricular septum (VSD), cerebellar hypoplasia in the left hemisphere and vernis, associated with Hypoplasia of the right vertebral artery with agenesis of its V4 segment. The Hemangioma is a typical marker of the syndrome, and hypoplasia or agenesis of the cerebellar vermis is the most common brain alteration, also seen in the patient in question. Those with this syndrome may have delays in neuro psychomotor development, seizures, and strokes not found in the patient in question. It is possible to make an early diagnosis in the prenatal period by ultrasound and the clinic can be perceived at birth, and despite all the findings in the patient in the prenatal period, the hypothesis of this syndrome had not yet been suggested. In this case, we observed the involvement of two of the major systems and one minor that comprise the PHACE syndrome, and this is in line with the prevalence of females, which corresponds to 88% of the reported cases.

Final Comments: The PHACE syndrome is a rare and little-explored neurocutaneous pathology, it presents alterations involving several organs and mainly neurological alterations such as seizures, delay in neuro psychomotor development, migraine, and swallowing dysfunction, having an important psychosocial impact for the patient as well as all the family. This syndrome remains underdiagnosed due to the scarce number of reported cases. The case described is important, as it corroborates the awareness of professionals for early diagnosis, making the treatment as appropriate as possible.

 

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Publication History

Article published online:
12 May 2025