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Otopathologic Abnormalities in CHARGE Syndrome.

Rafael da Costa Monsanto1,2, Renata Malimpensa Knoll3, Norma de Oliveira Penido1

  • 1Department of Otolaryngology-Head and Neck Surgery, Universidade Federal de São Paulo / Escola Paulista de Medicina, São Paulo, Brazil.

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|April 20, 2021
PubMed
Summary
This summary is machine-generated.

CHARGE syndrome causes significant temporal bone abnormalities, including malformed stapes, aberrant facial nerves, and underdeveloped cochlear and vestibular structures, impacting hearing and balance.

Keywords:
CHARGE syndromecochlear implantationcongenital abnormalitiesdeafnesshearing lossinner earmiddle earotopathologytemporal bone pathologyvestibular diseases

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Area of Science:

  • Otopathology
  • Genetics
  • Developmental Biology

Background:

  • CHARGE syndrome is a complex genetic disorder with diverse clinical manifestations.
  • Otopathologic findings in CHARGE syndrome are not well-characterized.
  • Understanding temporal bone abnormalities is crucial for managing associated audiovestibular dysfunction.

Purpose of the Study:

  • To conduct a detailed otopathologic analysis of temporal bones from individuals with CHARGE syndrome.
  • To identify and quantify the prevalence of specific temporal bone abnormalities in CHARGE syndrome.
  • To correlate these findings with potential impacts on audiovestibular function.

Main Methods:

  • Otopathologic examination of 12 human temporal bones from 6 donors with CHARGE syndrome.
  • Serial sectioning and hematoxylin and eosin staining of temporal bone specimens.
  • Systematic analysis of external, middle, and inner ear structures, including nerves and ganglia.

Main Results:

  • High prevalence of stapes malformation (100%) and aberrant facial nerve course (100%).
  • Significant cochlear (100%) and vestibular (83.3%) hypoplasia, with semicircular canal aplasia.
  • Reduced cochlear and vestibular nerve density and narrowed bony canals observed in all specimens.

Conclusions:

  • CHARGE syndrome is associated with widespread temporal bone malformations.
  • These abnormalities likely contribute to severe audiovestibular deficits in affected individuals.
  • Findings highlight the need for comprehensive audiological and vestibular assessment and tailored rehabilitation strategies.