Hearing loss in PHACE syndrome: clinical and radiologic findings

Childs Nerv Syst. 2018 Sep;34(9):1717-1724. doi: 10.1007/s00381-018-3822-x. Epub 2018 May 10.


Purpose: To characterize the types of hearing loss, auditory-related imaging findings, and hemangioma characteristics in patients with Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects, and abnormalities of the Eye (PHACE) syndrome.

Methods: Retrospective medical records, audiologic data, and imaging review of all patients presenting to a tertiary care children's hospital with a proven diagnosis of PHACE syndrome from 2005 to 2016.

Results: Twelve patients were identified with hearing and imaging data. 5/12 had hearing loss, 1 had unilateral severe sensorineural loss with minor conductive component, 1 had unilateral moderate sensorineural loss with minor conductive component, 1 had mild bilateral conductive loss, 1 had bilateral hearing loss (left severe mixed and right severe sensorineural), and 1 had moderate bilateral conductive loss. All patients passed their newborn hearing screening. Of the 5 patients with hearing loss, 3 had IAC hemangiomas (1 bilateral), 3 had enlarged IACs with prominent posterior petrous bones (1 bilateral), 2 had dysgenesis of the cerebellar vermis and hemispheres, there was 1 patient each with a deformed pinna and middle ear and mastoid effusions, and 1 patient had no abnormal auditory-related imaging findings. Patients with hearing loss were more likely to have more areas of cutaneous hemangioma involvement (mean 6.4 vs 3.1, p = .05). Laterality of hearing impairment correlated with the side of cutaneous hemangioma in all patients with hearing loss. Treatment with systemic propranolol did not improve hearing.

Conclusions: Patients with PHACE are at risk for hearing loss and may demonstrate radiologic abnormalities within the ear structures, although the type of hearing loss, imaging findings, and their respective correlation vary. While our results are limited by our small sample size, comprehensive audiology evaluations (as opposed to newborn screening testing only) should be considered for PHACE patients who have extensive cutaneous hemangioma or auditory-related imaging abnormalities, such as internal auditory canal hemangiomas.

Keywords: Hearing loss; Hemangioma; Internal auditory canal; PHACE syndrome.

MeSH terms

  • Aortic Coarctation / diagnostic imaging*
  • Aortic Coarctation / physiopathology*
  • Audiometry, Evoked Response / methods*
  • Child, Preschool
  • Ear Canal / diagnostic imaging
  • Ear Canal / physiopathology
  • Eye Abnormalities / diagnostic imaging*
  • Eye Abnormalities / physiopathology*
  • Female
  • Hearing Loss / diagnostic imaging*
  • Hearing Loss / physiopathology*
  • Hemangioma / diagnostic imaging
  • Hemangioma / physiopathology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Neurocutaneous Syndromes / diagnostic imaging*
  • Neurocutaneous Syndromes / physiopathology*
  • Retrospective Studies

Supplementary concepts

  • PHACE association