Manifestation of a Vestibular Schwannoma in a Patient With PHACE Syndrome

This case study reports a 6-week-old female with PHACE syndrome and a vestibular schwannoma, an exceedingly rare combination not previously documented in medical literature. PHACE syndrome, characterized by posterior fossa malformations, large facial hemangiomas, and arterial anomalies, manifested in the patient with an enlarging facial hemangioma obstructing her left eye. Imaging studies revealed left cerebellar hypoplasia, absent right vertebral artery, absent left A1 portion of the anterior cerebral artery, and a suspected acoustic neuroma in the left cerebellopontine angle. Additionally, a possible thyroid hemangioma and a small hepatic hemangioma were observed. The presence of a vestibular neuroma in PHACE syndrome, typically associated with Neurofibromatosis Type 2 or sporadic cases, poses a unique challenge. This unusual presentation raises critical considerations for differential diagnosis, given that vestibular schwannomas are not a known feature of PHACE syndrome. The coexistence of vascular anomalies and a vestibular schwannoma complicates imaging interpretation and may influence diagnostics and treatment choices. This case underscores the complexity and rarity of such presentations, highlighting the need for further research to understand the etiology and treatment of vestibular schwannomas in PHACE syndrome patients, given the absence of prior documented cases of this combination.