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Patients with CHARGE association: a model to study saccular function in the human.

J P Guyot1, D Vibert

  • 1Department of Otolaryngology-Head and Neck Surgery, University Hospital, Geneva, Switzerland.

The Annals of Otology, Rhinology, and Laryngology
|February 25, 1999
PubMed
Summary

CHARGE association, a condition causing congenital malformations, can lead to severe vestibular deficits. This case study shows a child with CHARGE association walked despite profound visual and vestibular impairments.

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Area of Science:

  • Otolaryngology
  • Developmental Pediatrics
  • Genetics

Background:

  • CHARGE association is a complex syndrome with diverse congenital malformations.
  • Key features include coloboma, heart defects, choanal atresia, growth/CNS anomalies, genital hypoplasia, and ear anomalies.
  • Inner ear malformations in CHARGE association often involve Mondini dysplasia and absence of the superior vestibular structures.

Observation:

  • A longitudinal case study of a child with CHARGE association up to age 10.
  • The child exhibited a complete absence of nystagmic response to standard vestibular tests (caloric, rotatory pendular).
  • A positive nystagmic response was observed during off-vertical axis rotation, indicating saccular macula stimulation.

Findings:

  • The study identified a specific inner ear dysplasia in CHARGE association, with only the saccule functioning as a vestibular organ.

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  • Severe bilateral sensorineural visual and vestibular deficits were present.
  • Despite these deficits, the child achieved independent walking at two years of age.

    • Implications:

    • This case reaffirms the saccule's role as a vestibular organ, located in the pars inferior.
    • The findings suggest that delays in motor development, such as walking, in CHARGE association may be primarily due to sensory deficits rather than central nervous system anomalies.
    • Understanding these specific sensory impairments is crucial for targeted developmental support in children with CHARGE association.