Histopathological basis of hearing impairment in Wolf-Hirschhorn syndrome

Laryngoscope. 2004 Aug;114(8):1426-30. doi: 10.1097/00005537-200408000-00021.


Objectives/hypothesis: To perform histological examination of temporal bones acquired from an infant with Wolf-Hirschhorn syndrome with an emphasis on identifying abnormalities that might be responsible for hearing impairment in this disorder.

Study design: Retrospective case review.

Methods: Temporal bones were taken at autopsy from a 10-month-old infant with Wolf-Hirschhorn syndrome. The right-side temporal bone was studied by microdissection. The middle ear was examined, and the inner ear sensory organs dissected for study by light microscopy. The left-side temporal bone was embedded in celloidin, and sections were cut for microscopic examination.

Results: Chronic otitis media was observed in both ears. Inflammation, effusion, and adhesions were present in the middle ear space. The malleus was malformed, and the chorda tympani nerve was found to pass through the bone of the malleus bilaterally. There was an area of sharply defined outer hair cell loss in the lower basal turn of the right-side organ of Corti, and defects were noted in the bone of the apical osseous spiral lamina in both cochleae.

Conclusion: In addition to the presence of otitis media, the likelihood of congenital abnormalities of the middle and inner ear should be considered in the assessment of patients with Wolf-Hirschhorn syndrome with hearing impairment.

MeSH terms

  • Abnormalities, Multiple* / pathology
  • Chorda Tympani Nerve / abnormalities
  • Chorda Tympani Nerve / pathology
  • Chromosome Deletion
  • Chromosome Disorders* / pathology
  • Chromosomes, Human, Pair 4
  • Ear, Inner / abnormalities
  • Ear, Inner / pathology
  • Ear, Middle / abnormalities
  • Ear, Middle / pathology
  • Hearing Disorders / pathology*
  • Humans
  • Infant
  • Male
  • Otitis Media / pathology
  • Syndrome
  • Temporal Bone / pathology