Superior Canal Dehiscence Syndrome Affecting 3 Families

Superior Canal Dehiscence Syndrome Affecting 3 Families: This case series describes the features of superior canal dehiscence syndrome in the multiple affected members of 3 families and explores the prospect of a genetic origin.

Jason D. Pou, MD¹; Michael J. Marino, MD¹; Rizwan Aslam, DO¹

Author Affiliations

• ¹Department of Otolaryngology–Head and Neck Surgery, Tulane University School of Medicine, New Orleans, Louisiana

JAMA Otolaryngol Head Neck Surg. 2017;143(7):729-730. doi:10.1001/jamaoto.2016.0497

 

FullText

A man in his 30s presented with a 1-week history of worsening blurry vision and gait instability. He had been treated approximately 4 months prior at an outside facility for cerebral infarct with resultant right lower extremity weakness. On presentation, he complained of headache and nasal congestion but denied diplopia or rhinorrhea. He had no history of head trauma or surgery. Findings from the ophthalmologic examination revealed bilateral visual acuity of 20/100 with intact visual fields. Findings from a head and neck examination were otherwise within normal limits, with cranial nerves III to XII intact. Computed tomography (CT) of the sinuses with image guidance protocol revealed a 5.6 × 2.7 × 2.0-cm, well-circumscribed expansile mass occupying the left petrous apex and sphenoid sinus (Figure, A). Magnetic resonance imaging (MRI) demonstrated that this mass was heterogeneous on T1-weighted images (Figure, B) and hyperintense on T2-weighted images. The mass did not enhance with gadolinium. The position of the internal carotid artery was not obviously displaced in either a posterior or anterior direction (Figure, A and B). Therefore, it was not entirely clear from imaging if this lesion originated in the petrous apex or sphenoid sinus. The patient was taken to the operating room in conjunction with the neurosurgery team for an endoscopic, transnasal approach to this lesion. A wide sphenoidotomy was performed, and a cystic mass was identified within the sphenoid sinus (Figure, C). On entering the capsule, a golden-brown fluid was encountered (Figure, D).

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