Manolache Oana, Damean G.1, Marinescu B., Martu D., Cozma S.

Introduction: GJB2 mutations are reported as the most common genetic factor involved in sensorineural hearing loss. The enlargement of the vestibular aqueduct represents the most frequent inner ear malformation seen in people with sensorineural hearing loss occured in early childhood. The association of these two impairing conditions is considered very rarely.
Methods: We present a case of a 9 years old girl, diagnosed with assymetric sensorineural hearing loss due to
the fluctuations of hearing in the best ear, which induced periodically communication difficulties.
Results: The audiological subjective and objective assessments showed in last 5 years a stable profound deafness on the left ear and different hearing thresholds, from severe to profound, on the right ear. Despite of the good results with hearing aid on the right side, the instability of the hearing with often periods of impossibility of communication, recommended the cochlear implantation on the opposite ear. The fluctuating nature of the hearing loss raise the issue of differential diagnosis of causes. The imagistic results (MRI and CT scan) sugest a bilateral enlarged vestibular aqueducts with no other inner ear abnormalities. The genetic tests showed a biallelic GJB2 mutation. In this special case, the recommended cochlear implantation offered to the patient the necessary constant hearing for communication.
Conclusions: Fluctuating sensorineural hearing loss in children is a condition that may damage the communication and language acquisition. The ensurence of a constant auditory input in these situations requires cochlear implantation in the most damaged ear. This case presents a rare combination of two causes that can cause deafness. In this situation is almost impossible to determine the exact etiology of the disease.

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