Overlap Diagnostic Odyssey and Full Mouth Rehabilitation of a Juvenile Patient With IFIH1-Related Disorder: A Case of Aicardi-Goutières and Singleton Merten Syndromes Overlap

Abstract

Objective: This case report describes the prosthetic rehabilitation of a 15-year-old female patient with a rare IFIH1-related interferonopathy, presenting features from both Aicardi-Goutières Syndrome (AGS) and Singleton-Merten Syndrome (SMS). The report highlights the unique dental and maxillofacial challenges, and the multidisciplinary treatment approach required in such patients. Methods: The patient underwent a comprehensive prosthetic rehabilitation, which included two stages of extractions, followed by the fabrication of a complete upper denture and a two-implant-retained mandibular overdenture. Pre- and post-treatment assessments, including panoramic radiographs and cone beam computed tomography (CBCT), were utilized to guide treatment. Results: Initial assessments revealed root formation anomalies, multiple impacted teeth, internal resorption, and associated dental anomalies. Following extractions and ridge augmentation, two freestanding implants were successfully placed in the anterior mandible, with no complications during osseointegration. The patient reported satisfaction with the function, esthetics, and stability of her dental prostheses. Conclusions: This case underscores the importance of a multidisciplinary approach for managing dental anomalies and bone fragility in patients with IFIH1-related disorders. Early genetic diagnosis and thorough treatment planning are critical for successful prosthetic rehabilitation and optimal patient outcomes.