• Annals of Saudi medicine · Nov 2019

    Case Reports

    Rare otologic presentation of cat eye syndrome.

    • Latifah Alamer, Shaksi Bassant, Rami Alhazmi, and Musaed Alzahrani.
    • From the Department of Otolaryngology, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
    • Ann Saudi Med. 2019 Nov 1; 39 (6): 441-443.

    AbstractWe encountered an extremely rare case where a patient with cat eye syndrome (CES) who presented with symptoms of posterior semicircular canal dehiscence (PSCD). CES is a rare genetic disorder, resulting from duplication of chromosome 22. Patients may present with variable phenotypes, including characteristic of coloboma, heart defect, periauricular skin pit/tag, microtia, anal atresia and mildly retarded mental development in some cases. PSCD is also a disease of the inner ear, where patients present with third window signs and symptoms due to lack of bony coverage. PSCD is usually associated with a high riding jugular bulb and fibrous dysplasia. In this study, we report a new otologic finding in CES patient as an association of PSCD and high jugular pulp. We describe the work up and its findings and the management of this patient. SIMILAR CASES PUBLISHED:: None.

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