P3.G138: Clinical Presentation and Management of PHACE Syndrome in a Pediatric Patient: A Case Report

Introduction: PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa anomalies, hemangiomas, arterial anomalies, cardiac defects, and eye abnormalities. Diagnosis relies on specific major and minor criteria, with updated guidelines emphasizing the diagnostic significance of individual criteria. Oral propranolol has emerged as a safe and effective treatment option, with recommendations for thorough cerebrovascular and cardiac evaluations prior to initiation. Patients often require long-term propranolol therapy, and discontinuation may lead to rebound growth.

Case Description: We present a case of a 3-year-old female, dominican, delivered via cesarean section at 41 weeks, with prenatal exposure to alcohol and marijuana. Although initially without anomalies, at 20 days of age, she developed facial hemangiomas in the frontotemporal and frontonasal regions, leading to bilateral eye obstruction and subsequent ulceration and bleeding of the lips. She exhibited macrocephaly and hydrocephalus, successfully managed at 7 months with a ventriculoperitoneal shunt. Imaging studies revealed mega cisterna magna, periorbital soft tissue alterations, dysgenesis of the corpus callosum, and possible Dandy-Walker malformation. At 12 months, she received a diagnosis of PHACE syndrome due to a facial hemangioma exceeding 5 cm, posterior fossa anomalies, and ocular alterations. By 20 months, she demonstrated delayed motor development, stereotyped movements, hypotonia, and convergent strabismus, along with posterior vitreous detachment and mild optic nerve excavations in both eyes. Currently, at 4 years old, she presents herself with profound developmental delays, including the inability to ambulate or communicate verbally. Propranolol therapy significantly reduced her cutaneous hemangiomas, with dosage adjustments based on weight changes. She receives multidisciplinary care, including occupational therapy and orthopedic support. Due to financial constraints, the family was unable to afford all recommended imaging and laboratory studies.

Discussion: PHACE syndrome predominantly affects females, with approximately 400 documented cases globally. It is characterized by the presence of extensive facial hemangiomas in 20-30% of cases, often concomitant with dental root anomalies, enamel hypoplasia, and infrequent yet high-risk for recurrence and post-treatment ulceration lip hemangiomas. Diagnosis hinges on a combination of clinical evaluation and imaging modalities, commonly employing MRI and echocardiography. Historically, treatment involved oral corticosteroids, but propranolol has emerged as the preferred option due to efficacy and tolerability, although long-term outcomes are unclear. Complications, such as cerebrovascular anomalies leading to strokes, necessitate meticulous monitoring. Discontinuation of propranolol should be carefully monitored, given the potential for recurrence and tumor progression. Subsequent research efforts are imperative for unraveling the genetic basis of the syndrome and advancing treatment modalities.

Conclusion: This case highlights the complex presentation and management of PHACE syndrome, underscoring the need for early diagnosis and multidisciplinary care. Treatment requires caution due to risks to vital structures. Further research is crucial to understanding genetic mechanisms and improving treatment strategies.