Management of Pediatric Patients with X-Linked Stapes Gusher Syndrome

Abstract

Objectives:

Present outcomes of children with X-linked stapes gusher (XLSG) syndrome managed at a single institution.

Methods:

A retrospective evaluation of children with radiographically confirmed XLSG was undertaken. Additionally, an analysis of surgical complications and speech perception outcomes in the published literature was carried out.

Results:

Eight male children with XLSG identified in the first year of life were included in the single institutional review. All demonstrated varying levels of mixed hearing loss with present acoustic reflexes. There was no associated medical comorbidities or intellectual disability. The average pure tone average (PTA) at initiation of care was 90 ± 14 dB HL. All patients were initially managed with conventional amplification and 4 went on to receive cochlear implants (mean age 7 years). Speech perception abilities were variable amongst the implanted children (PBK range = 8-84%) despite radiographically confirmed electrode placement. One patient was too young to test. Children using amplification alone (n = 4) also demonstrated variable results. Literature review identified 21 other XLSG patients with cochlear implants (1 bilateral). Surgical complications included 4 postoperative cerebrospinal fluid leaks, 4 electrodes placed into the internal auditory canal, 2 electrode extrusions, and one device failure. Speech perception testing revealed 12 patients with open set abilities, 3 with closed set abilities, and 5 with only sound detection.

Conclusions:

Some children with XLSG can be managed with amplification alone. Cochlear implantation, while possible, presents issues with electrode placement, cerebrospinal fluid management and variable outcomes. Careful planning is needed in children with XLSG to minimize risk and optimize outcomes.