N/A

Inner ear pathology is well documented in associated with Down’s Syndrome (DS), including absence or dehiscence of the semicircular canals. Up to 30% of children with DS demonstrate nystagmus. Tullio’s phenomenon is typified by vertigo, nystagmus, or oscillopsia induced by sound or middle ear pressure (e.g. applied pressure to the tragus). We examined an 8-month-old with DS and infantile nystagmus produced in a single position while breastfeeding. Temporal bone scanning revealed complete opacification of the mastoid and middle ear, associated with thinning of the semicircular canals.

Case Study

An 8-month-old boy with DS was referred to Neuro-Ophthalmology for right beating nystagmus present when breastfeeding. On exam, he had features typical of Down’s Syndrome. He had generalized hypotonia but active movement in all four extremities with physiologic reflexes. Eye examination showed orthophoric in primary position with smooth tracking and active fixational eye movements. His pupils were small, 3mm, and reactive.  Eye movements were memorialized on film and showed nystagmus only while feeding on the right breast. The nystagmus was right beating. This was not present in other positions, nor could it be reproduced with use of a pacifier. CT scan of the temporal bones showed complete opacification of the left mastoid air cells and the left middle ear cavity without ossicular erosion. There was thinning of the bony plate overlying the posterior aspects of the bilateral posterior semicircular canals.

This case represents infantile nystagmus while breastfeeding. It seems plausible that this dependent nystagmus represents Tullio’s Phenomenon, the consequence of position, breastfeeding, and opacification of the middle ear. The possibility of superimposed bony abnormality may be an additive risk factor.