Case 1
A 3 years old male child was brought to our Outpatient Department by his
parents with the complaints of less responsiveness to sounds and delayed
speech development. He was born to healthy, normal hearing parents by
normal vaginal delivery with a birth weight of with no perinatal risk
factors. At the time of presentation, he could speak only limited
monosyllables. There was no history of ear discharge, recurrent
meningitis or dizziness. A delay in milestones was reported. On
examination, the child was active and playful with lack of eye contact.
He had microcephaly. The rest of the clinical examination was
non-contributory. Patient was subjected to a complete audiological
evaluation. Oto Acoustic Emissions (OAEs) test showed pass in both ears.
Tympanometry showed bilateral ‘A’ type tympanogram with normal reflex.
Brainstem Evoked Response Audiometry (BERA) showed a normal wave V peak
till 30 dBnHL in both ears suggestive of bilateral normal hearing
sensitivity (Figure.1). In view of normal hearing as per audiological
investigations, a detailed psychological evaluation was sought. On
Development Screening Test, he obtained a Developmental Age of 18 months
(Development Quotient of 50), indicative of mild developmental delay. On
ISAA (Indian Scale for Identification of Autism), he scored 84,
indicative of mild Autism. Main problem areas were identified as social
relationships, speech-language and communication. As part of further
work up, Magnetic Resonance Imaging (MRI) of brain, inner ear and
internal auditory canal (IAC) was done. Multiplanar images were acquired
using T1, T2, T2- FLAIR, FIESTA sequences by using GE discovery 750W 3T
MRI. Surprisingly, MRI revealed markedly hypoplastic middle and apical
turns of bilateral cochlea with normal basal turns with
non-visualisation of modiolus and interscalar septa in addition to
bilaterally dilated IACs (Figure 2 A-D). High Resolution Computed
Tomography (HRCT) temporal bone was done for correlation. In view of
bilateral cochlear hypoplasia type IV, audiological investigations were
repeated from a different reliable audiology clinic with congruent
results.