A Suspected Case of Wildervanck Syndrome

A 5-year-old male with congenital right-sided hearing loss presented to the neuro-ophthalmology clinic for strabismus evaluation. He had longstanding bilateral abduction deficits with associated esotropia, for which he underwent bilateral medial rectus recessions at age three. He had persistent limitations of bilateral abduction and adduction in a pattern consistent with bilateral Duane syndrome type III. There was ipsilateral palpebral fissure narrowing on attempted adduction. MRI revealed abnormal right inner ear structures. Temporal bone CT revealed right ear abnormalities: absent oval window; cochlea, vestibule, and semicircular canals fused into a common cavity lacking internal architecture. Wildervanck syndrome was suspected; this syndrome typically involves the triad of Duane syndrome, Klippel-Feil cervical anomaly, and congenital deafness [1]. Cervical imaging was advised but not completed by the patient. This case was unusual as the syndrome typically has a large female predominance [2]. Almost 90 cases have been reported, with the full triad being absent in some individuals [2]. Right temporal bone axial (A) and coronal (B) CT shows cochlea, vestibule, and semicircular canals fused into a single cavity (red arrow), and absent oval window with footplate of the stapes articulating with a dysmorphic round window (purple arrow). Left temporal bone axial (C) and coronal (D) CT shows hypoplastic middle and apical cochlear turns (green arrows).