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.