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Cervico-Oculo-Acoustic Syndrome in a Male with Consanguineous Parents

  • L. Di Maio (a1) (a2), V. Marcelli (a3), C. Vitale (a1), M. Menzione (a4), A. De Giorgio (a1) (a2), F. Briganti (a1), A. Perretti (a1), E. Marciano (a3), A. Filla (a1) and G. De Michele (a1)...

Abstract:

Background:

The cervico-oculo-acoustic syndrome comprises Klippel-Feil anomaly, sensorineural deafness and Duane's retraction syndrome. Polygenic, autosomal dominant, and X-linked inheritance have been hypothesized. The disorder has rarely been reported in males.

Case Report:

A 42-year-old male, born of consanguineous parents, presented with Duane's syndrome, mixed hearing loss, C2-C3 fusion, neck stiffness, and right facial palsy. A variety of cardiac, neurological and urogenital anomalies occurred in his relatives. The electro-oculographic studies showed impaired abduction and adduction of the right eye and impaired abduction of the left eye. Vergence, vertical eye movements and peripheral vestibular responses were normal. Somatosensory evoked potentials showed absence of the N13 peak and brainstem auditory evoked potentials bilateral delay of the I-III interpeak latencies.

Conclusions:

Consanguinity of the patient's parents, not previously reported, suggests autosomal recessive inheritance, but autosomal dominant inheritance is indicated by the family history. The pattern of the oculomotor deficit is consistent with bilateral dysplasia of the abducens nuclei with preserved internuclear neurons in the right abducens nucleus. Neurophysiological investigations revealed lower brainstem and cervical cord involvement.

RÉSUMÉ: Contexte:

Le syndrome cervico-oculo-acoustique comprend le syndrome de Klippel-Feil, une surdité de perception et le syndrome de rétraction du globe oculaire de Duane. Plusieurs modes d’hérédité ont été proposés, soit une hérédité polygénique, dominante autosomique ou liée à l’X. Ce syndrome a rarement été rapporté chez un homme.

Observation:

Un homme de 42 ans, issu d’une union consanguine, a consulté pour un syndrome de Duane, une surdité mixte, une fusion de C2-C3, une raideur cervicale et une paralysie faciale. À l’histoire familiale, on notait la présence de plusieurs anomalies cardiaques, neurologiques et urogénitales dans sa parenté. Les études électro-oculographiques ont montré une abduction et une adduction anormales au niveau de l’oeil droit et une abduction anormale au niveau de l’oeil gauche. La convergence, les mouvements oculaires verticaux et les réponses vestibulaires périphériques étaient normales. Les potentiels évoqués somato-sensitifs ont révélé une absence du pic N13 et les potentiels évoqués du tronc cérébral ont montré un retard bilatéral des intervalles inter-pics I-III.

Conclusions:

La consanguinité chez les parents de notre patient, qui n’a jamais fait l‘objet d‘une publication, suggère une hérédité récessive, sans exclure la possibilité d‘une hérédité dominante autosomique à cause de l‘histoire familiale. Le type de déficit oculomoteur observé chez ce patient est compatible avec une dysplasie bilatérale du noyau du nerf moteur oculaire externe avec préservation des neurons internucléaires du noyau du nerf moteur oculaire externe droit. Les études neurophysiologiques ont révélé qu’il existait des anomalies à la region inférieure du tronc cérébral et à la moelle épinière.

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Copyright

Corresponding author

Dipartimento di Scienze Neurologiche, Edificio 17, Università “Federico II”, via Pansini 5, 80131, Napoli, Italy

References

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