Child's Nervous System

, Volume 34, Issue 9, pp 1717–1724 | Cite as

Hearing loss in PHACE syndrome: clinical and radiologic findings

  • Mark D. MamloukEmail author
  • Bree Zimmerman
  • Erin F. Mathes
  • Kristina W. Rosbe
Original Paper



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.


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.


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.


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.


PHACE syndrome Hearing loss Hemangioma Internal auditory canal 


Compliance with ethical standards

This study was approved by the institutional review board, which waived the requirement for informed consent.

Conflict of interest

The authors declare that they have no conflict of interest.


  1. 1.
    Garzon MC, Epstein LG, Heyer GL et al (2016) PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr 178:24–33.e22Google Scholar
  2. 2.
    Bangiyev JN, Gurgel R, Vanderhooft SL, Grimmer JF (2017) Reversible profound sensorineural hearing loss due to propranolol sensitive hemangioma in an infant with PHACE syndrome. Int J Pediatr Otorhinolaryngol 103:55–57CrossRefPubMedGoogle Scholar
  3. 3.
    Duffy KJ, Runge-Samuelson C, Bayer ML, Friedland D, Sulman C, Chun R, Kerschner JE, Metry D, Adams D, Drolet BA (2010) Association of hearing loss with PHACE syndrome. Arch Dermatol 146:1391–1396CrossRefPubMedGoogle Scholar
  4. 4.
    Hartemink DA, Chiu YE, Drolet BA, Kerschner JE (2009) PHACES syndrome: a review. Int J Pediatr Otorhinolaryngol 73:181–187CrossRefPubMedGoogle Scholar
  5. 5.
    James PA, McGaughran J (2002) Complete overlap of PHACE syndrome and sternal malformation—vascular dysplasia association. Am J Med Genet 110:78–84CrossRefPubMedGoogle Scholar
  6. 6.
    Meltzer DE, Robson CD, Blei F, Holliday RA (2015) Enlargement of the internal auditory canal and associated posterior fossa anomalies in PHACES association. AJNR Am J Neuroradiol 36:2159–2162CrossRefPubMedGoogle Scholar
  7. 7.
    Poindexter G, Metry DW, Barkovich AJ, Frieden IJ (2007) PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. Pediatr Neurol 36:402–406CrossRefPubMedGoogle Scholar
  8. 8.
    Rudnick EF, Chen EY, Manning SC, Perkins JA (2009) PHACES syndrome: otolaryngic considerations in recognition and management. Int J Pediatr Otorhinolaryngol 73:281–288CrossRefPubMedGoogle Scholar
  9. 9.
    Dilwali S, Landegger LD, Soares VY, Deschler DG, Stankovic KM (2015) Secreted factors from human vestibular schwannomas can cause cochlear damage. Sci Rep 5:18599CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Bess FH, Dodd-Murphy J, Parker RA (1998) Children with minimal sensorineural hearing loss: prevalence, educational performance, and functional status. Ear Hear 19:339–354CrossRefPubMedGoogle Scholar
  11. 11.
    Cunningham M, Cox EO (2003) Hearing assessment in infants and children: recommendations beyond neonatal screening. Pediatrics 111:436–440CrossRefPubMedGoogle Scholar
  12. 12.
    Martin KL, Arvedson JC, Bayer ML, Drolet BA, Chun R, Siegel DH (2015) Risk of dysphagia and speech and language delay in PHACE syndrome. Pediatr Dermatol 32:64–69CrossRefPubMedGoogle Scholar
  13. 13.
    Mamlouk MD, Nicholson AD, Cooke DL, Hess CP (2017) Tips and tricks to optimize MRI protocols for cutaneous vascular anomalies. Clin Imaging 45:71–80CrossRefPubMedGoogle Scholar
  14. 14.
    Mamlouk MD, Hess CP (2016) Arterial spin-labeled perfusion for vascular anomalies in the pediatric head and neck. Clin Imaging 40:1040–1046CrossRefPubMedGoogle Scholar
  15. 15.
    Wright JN, Wycoco V (2017) Asymmetric Meckel cave enlargement: a potential marker of PHACES syndrome. AJNR Am J Neuroradiol 38:1223–1227CrossRefPubMedGoogle Scholar
  16. 16.
    Krings T, Geibprasert S, Luo CB, Bhattacharya JJ, Alvarez H, Lasjaunias P (2007) Segmental neurovascular syndromes in children. Neuroimaging Clin N Am 17:245–258CrossRefPubMedGoogle Scholar
  17. 17.
    Chilosi AM, Comparini A, Scusa MF et al (2010) Neurodevelopmental disorders in children with severe to profound sensorineural hearing loss: a clinical study. Dev Med Child Neurol 52:856–862CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Mark D. Mamlouk
    • 1
    • 2
    Email author
  • Bree Zimmerman
    • 3
  • Erin F. Mathes
    • 4
  • Kristina W. Rosbe
    • 5
  1. 1.Department of Radiology, The Permanente Medical GroupKaiser Permanente Medical Center Santa ClaraSanta ClaraUSA
  2. 2.Department of Radiology and Biomedical ImagingUniversity of California, San FranciscoSan FranciscoUSA
  3. 3.Department of DermatologyUniversity of California, San Francisco, Benioff Children’s Hospital OaklandOaklandUSA
  4. 4.Departments of Dermatology and PediatricsUniversity of California, San FranciscoSan FranciscoUSA
  5. 5.Department of Otolaryngology Head and Neck Surgery, Division of Pediatric OtolaryngologyUniversity of California, San FranciscoSan FranciscoUSA

Personalised recommendations