Журнал клинических случаев

A Rare Case of Bilateral Duane Syndrome Type I with Inner Ear Developmental Arrest

Abstract

Christine Vella, John Cutajar and Edith Vassallo

Background: Duane Syndrome is a congenital cranial dysinnervation disorder that primarily restricts eye movements. The majority of patients have isolated Duane syndrome with no other congenital abnormalities, however in certain cases, there are non-ocular symptoms which do not fit aspecific syndrome. In this case we describe bilateral Duane syndrome type 1(limited eye abduction) with findings of developmental arrest in the inner ear and cochlear aplasia which to our knowledge has not been reported yet.

Case presentation: This case reports a 3 year old boy who presented with watery eyes during feeding and speech delay. He had a right sided sensorineural hearing loss, with ABR being inconclusive and ASSR showed severe hearing loss. CT mastoids and MRI were performed and a diagnosis of cochlear aplasia with inner ear developmental arrest was made. The patient showed good response and improvement in speech with a soft band bone anchored hearing aid.

Conclusion: The early recognition and diagnosis of other organ anomalies associated with Duane’s syndrome is of utmost importance for the prognosis of the patient. Radiological imaging, most importantly MRI is the gold-standard for identification of inner ear abnormalities.