ABSTRACT

CHARGE Syndrome represents a cluster of features including coloboma, congenital heart defects, choanal athresia, growth or development retardation, genital defects and deafness.

Cochlear implantation indications for these patients are still controversial.

L.S. was a 4-year-old girl affected by CHARGE Syndrome with profound bilateral sensorineural hearing loss.

The patient used a bilateral retroauricolar prostheses for 8 months without any improvement.

The patient was underwent a multidisciplinary assessment at the S. Carlo Regional Hospital in Potenza, Italy where CT-scan and MRI showed no evidence of inner ear morphological anomalies.  

A right masthoidectomy with posterior tympanothomy was performed at the same hospital, but the patient was not implanted due to middle ear anatomical variants as a large incus, exposed facial nerve and abnormal promontory without evident round window.

At 4 years and ten months  of age, L.S. underwent a second surgery on the opposite side at Santobono-Pausilipon Pediatric Hospital in Naples,  during which a Cochlear® Freedom was implanted.

Objective data from the cochlear implant and post-operative CT showed that the implant was functioning and correctly positioned. L.S. has her regular check ups at the S.Carlo Regional Hospital in Potenza and, six months after surgery and after some stimulation strategy and settings switching she detected mild intensity environmental, lipreading interest, attention improvement and she searched for the implant at upon waking.

In our opinion cochlear implantation, despite technical, anatomical and cognitive obstacles, should be attempted in these patients in order to improve quality of life even if the expectations regarding communicative ability improvements should be kept realistic.