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Case Reports
. 2019 Nov-Dec;39(6):441-443.
doi: 10.5144/0256-4947.2019.441. Epub 2019 Dec 5.

Rare otologic presentation of cat eye syndrome

Latifah Alamer  1 , Shaksi Bassant  1 , Rami Alhazmi  1 , Musaed Alzahrani  1
Affiliations
Case Reports

Rare otologic presentation of cat eye syndrome

Latifah Alamer et al. Ann Saudi Med. 2019 Nov-Dec.

Abstract

We 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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Figures

Figure 1.
Figure 1.
Audiogram showing bilateral low frequency conductive hearing loss and high frequency sensorineural hearing loss.
Figure 2.
Figure 2.
Video head impulse test showing asymmetric gain.
Figure 3.
Figure 3.
Axial (A) and coronal (B) temporal bone CT in bone window demonstrates a superior lobulation (asterisk) emanating from the high ridIng jugular bulb. There are two focal bony dehiscences along the inferior limb of posterior SSC (black arrow) and vestibular aqueduct (white arrow). C: Coronal 3D T1 post contrast demonstrates a focal out-pouch of the right jugular bulb extending superiorly (arrow) consistent with a jugular bulb diverticulum.
See this image and copyright information in PMC

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Publication types

Supplementary concepts