13-year-old female patient with unilateral conductive hearing loss

Introduction PHACE is an acronym for a syndrome with brain malformations in the posterior (back) cranial fossa, large facial hemangiomas, anatomic anomalies of the cerebral arteries, coarctatio aortae and other cardiac (cardiac) defects and ocular (eye) anomalies. When anomalies of the sternum are also present, the condition is referred to as PHACES.

Case presentation We present the case of a 13-year-old girl with a unilateral sound conduction abnormality at J1 and a history of known PHACES syndrome. Subjectively, no complaints are reported. Ear microscopy revealed an overall intact tympanic membrane with soft-part structure in the anterior lower quadrant. Sound audiometry revealed a discrete conductive disturbance of 10dB pantonally. An internally performed CT showed an aberrant tympanic course of the ACI with contact to the ossicular chain. Retrospectively, an MRI examination with angiosequence performed 11 years earlier had shown the above findings.

Conclusion PHACES syndrome belongs to a very rare disease with a prevalence of 1:100000 and occurs as an x-linked inheritance especially in the female sex. Hearing loss is a very rare associated symptom and often manifests as sensoneurinal hearing loss. Accordingly, our case presentation is intended to draw attention to a possible transmission disorder due to vascular anomalies. For hearing improvement, should the conductive hearing loss continue to increase, we offer the patient a bone conduction hearing system.

Publication History

Article published online:
27 June 2023