Journal Article

The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series

Fahoum, Kholoud, Absawi, Mervat Khoury, Srouji, Samer, Kablan, Fares, Shama, Ali, Slutzky-Goldberg, Iris, Redenski, Idan

2025

Overview

Background Kohlschutter-Tonz syndrome (KTSZ) is a rare, autosomal recessive neurodegenerative disorder. Patients suffer from a triad of developmental delays, epilepsy, and amelogenesis imperfecta (AI). Most reports of KTSZ patients focus on the genetic pattern of the disease and medical features, dental care is not considered a primary part of the initial intervention. Thus, the aim of the current work was to evaluate the impact that dental treatment plans had on both patients and caregivers. Case presentation We present a series of five pediatric patients, aged 4-14 years, and diagnosed with KTSZ. All patients were from Druze origin and carried the same ROGDI gene mutation. Patients were suffering from oral and dental disease due to a lack of prior dental treatment as well as dental manifestations of KTSZ and AI in the form of delayed eruption, small teeth, and yellowish discoloration with hypoplastic enamel. Patients were referred to the Department of Pediatric Dentistry at the Galilee Medical Center and underwent dental treatment under general anesthesia (GA) which included both periodontal and prosthodontic treatment. Post-operatively, patient sreturned for routine follow-up visits every three months to maintain oral hygiene and provide preventive dental care. To assess the impact of dental interventions under GA on the patients’ and their legal guardians, The Early Childhood Oral Health Impact Scale (ECOHIS) was completed by guardians to two months before and two months after dental treatment. Reports indicated a clear improvement both in patients and family domains of ECOHIS post-operatively. Conclusions Comprehensive dental treatment under GA significantly improved KTSZ patients symptoms and functions, as well as parent distress.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Adolescent / Aesthetics / Amelogenesis imperfecta / Amelogenesis Imperfecta - complications / Amelogenesis Imperfecta - genetics / Anesthesia, General / Ataxia / Case Report / Child / Child development / Child, Preschool / Convulsions & seizures / Dental enamel / Dental insurance / Dental treatment / Epilepsy / Epilepsy - complications / Female / General anesthesia / Genes / Genetic disorders / Guardians / Halitosis / Humans / Intellectual disabilities / Internal Medicine / Intervention / Kohlshutter-tonz syndrome / KTSZ / Male / Medicine / Medicine & Public Health / Mutation / Oral hygiene / Pain / Patients / Pediatric research / Pediatrics / Physiological aspects / Quality of life / Questionnaires / ROGDI / Self image / SLC13A5 / Social interaction / Statistical analysis / Strabismus / Syndrome / Teeth / Therapeutics, Dental