Page 108 - Portuguese Journal - SPORL - Vol 61. Nº1
P. 108
Image 1 Image 2
Right pinna dysplasia and EAC agenesis Left preauricular appendage and EAC stenosis
degree. At 4 months of age the patient was membranous portion of the left EAC, with its
referred to our center for diagnostic and bottom filled by soft tissue densities (image 5).
therapeutic management. In addition, bilateral ossicular chain dysplasia
The audiological study using auditory evoked with bilateral malleus and incus fusion is
potentials (air and bone conduction) showed described (image 6), and on the right ear a
moderate-severe bilateral transmission fusion of both to the lateral wall of the tympanic
hearing loss with thresholds of 60-70 dB cavity. Both stapes are clearly observed (image
in (air) and 10 dB (bone) (image 3). Evoked 7). We observe also hypoplasia of mastoid
brainstem potentials using a Sentiero cells and tympanic cavity bilaterally (image
Advanced transducer (SOH100360) with EC- 6). A dilation of the subarcuate duct was also
03 (air) and B71 (bone) headset both with observed bilaterally (Figure 8). There is no
alternating "chirp" stimulus. No acoustic other alterations. The cochleas, vestibule and
otoemissions were performed due to semicircular canals are unremarkable. And
craniofacial malformations and alterations in both facial nerves are normal (image 9)
both external auditory canals. A bilateral adaptation of bone hearing aids
The genetic study of the karyotype in peripheral coupled with an elastic band and speech
blood showed the presence of a bisatelite therapy support was chosen, which obtained
supernumerary microchromosome involving a good auditory response. In the future, when
a partial mosaic triplication of the proximal the age and conditions of the patient allow
region on the long arm of chromosome 22 it, the adaptation of bone anchored hearing
(22q11). The karyotype presented is: 47, XY, +mar implants will be considered.
[16] / 46, XY [9] (image 4), genetic alteration The comprehensive diagnostic and therapeutic
responsible for cat eye syndrome (CES). management of the patient was discussed in a
Computed tomography (CT) of temporal multidisciplinary committee with pediatricians,
bones showed agenesis of the right external pediatric surgeons, otolaryngologists and
auditory canal (EAC) in its membranous and maxillofacial surgeons.
bony portions and severe stenosis of the
108 Portuguese Journal of Otorhinolaryngology - Head and Neck Surgery
