The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series
Abstract 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 fea...
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BMC
2025-07-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-024-05325-6 |
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| author | Mervat Khoury Absawi Ali Shama Kholoud Fahoum Iris Slutzky-Goldberg Fares Kablan Idan Redenski Samer Srouji |
| author_facet | Mervat Khoury Absawi Ali Shama Kholoud Fahoum Iris Slutzky-Goldberg Fares Kablan Idan Redenski Samer Srouji |
| author_sort | Mervat Khoury Absawi |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-e8ed3a4863a240f5a891146741fc4e09 |
| institution | DOAJ |
| issn | 1471-2431 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj-art-e8ed3a4863a240f5a891146741fc4e092025-08-20T03:06:05ZengBMCBMC Pediatrics1471-24312025-07-012511810.1186/s12887-024-05325-6The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case seriesMervat Khoury Absawi0Ali Shama1Kholoud Fahoum2Iris Slutzky-Goldberg3Fares Kablan4Idan Redenski5Samer Srouji6Department of Pediatric Dentistry, Galilee College of Dental Sciences, Galilee Medical CenterDepartment of Pediatric Dentistry, Galilee College of Dental Sciences, Galilee Medical CenterDepartment of Pediatric Dentistry, Galilee College of Dental Sciences, Galilee Medical CenterDepartment of Endodontics, Galilee College of Dental Sciences, Galilee Medical CenterDepartment of Oral and Maxillofacial Surgery, Galilee College of Dental Sciences, Galilee Medical CenterDepartment of Oral and Maxillofacial Surgery, Galilee College of Dental Sciences, Galilee Medical CenterDepartment of Oral and Maxillofacial Surgery, Galilee College of Dental Sciences, Galilee Medical CenterAbstract 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.https://doi.org/10.1186/s12887-024-05325-6KTSZKohlshutter-tonz syndromeROGDISLC13A5Dental treatmentAmelogenesis imperfecta |
| spellingShingle | Mervat Khoury Absawi Ali Shama Kholoud Fahoum Iris Slutzky-Goldberg Fares Kablan Idan Redenski Samer Srouji The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series BMC Pediatrics KTSZ Kohlshutter-tonz syndrome ROGDI SLC13A5 Dental treatment Amelogenesis imperfecta |
| title | The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series |
| title_full | The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series |
| title_fullStr | The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series |
| title_full_unstemmed | The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series |
| title_short | The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series |
| title_sort | impact of dental intervention under general anesthesia in kohlschutter tonz syndrome a case series |
| topic | KTSZ Kohlshutter-tonz syndrome ROGDI SLC13A5 Dental treatment Amelogenesis imperfecta |
| url | https://doi.org/10.1186/s12887-024-05325-6 |
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