AN 11-YEAR-OLD boy presented with a several-year history of slowly progressing bilateral hearing loss, which was worse in the right ear. He denied vertigo and tinnitus. Physical examination showed bilateral preauricular pits, bilateral cupped ears, and a cervical draining fistula opening close to the anterior border of the sternocleidomastoid muscle on the right side. The findings of otoscopy were normal on both sides. Audiometry (Figure 1) showed bilateral moderate to severe mixed hearing loss, which was worse in the right ear. His physical and mental development was normal for his age. Computed tomographic scans of the temporal bones showed a low middle cranial fossa floor leading to a low position of the external auditory canal and middle ear in relation to the inner ear, a normal-appearing cochlea, and a high jugular bulb encroaching the round window niche but covered by a thin bony plate (Figure 2, A and B). The internal auditory canal was abnormally large, and the horizontal trajectory of the facial nerve was overhanging the oval window and at the level of the middle cranial fossa floor (Figure 2, C). The middle ear was hypoplastic. The patient denied any previous history of renal symptoms. His mother had hearing loss and cupped ears, preauricular pits, and a cervical fistula but was otherwise healthy. The pedigree of his family is shown in Figure 3.
Messias CI, Oliveira CA. Quiz Case 2. Arch Otolaryngol Head Neck Surg. 2000;126(1):95. doi: