Abstract
OBJECTIVES: To describe outcomes after bilateral cochlear implantation (CI) in a patient with a pathologic PTPN11 variant associated with Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML). Additionally, to assess the utility of CI in this specific population based on our outcome and previous reports. STUDY DESIGN: Retrospective case report with literature review using Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. PATIENTS: A young boy with various multiorgan abnormalities, speech and language delay, and persistent hearing loss who was found to have a heterozygous PTPN11 gene mutation at age 2. INTERVENTIONS: Bilateral tympanostomy tube placement, diagnostic imaging, and eventual staged bilateral CI. MAIN OUTCOME MEASURES: Objective audiometric testing and developmental milestone attainment. RESULTS: Bilateral CI was successfully completed over a 2-month period. The patient illustrated significant improvement in objective audiologic measurement. However, he continues to sign as his main form of communication without significant speech progression. CONCLUSIONS: Early diagnostic and therapeutic intervention in patients with NS/NSML can help improve long-term audiologic and speech development. Given the heterogeneity of NS/NSML, a multidisciplinary approach is needed for optimal outcomes.