Kohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review

Kohlschütter-Tönz syndrome (KTS) (OMIM#226750) is a rare autosomal recessive disorder characterized by epileptic encephalopathy, developmental delay, and amelogenesis imperfecta. Early diagnosis and management are crucial, but the complexity of symptoms, particularly dental and neurological impairments, poses significant challenges. The aim of this report is to describe the clinical findings of 2 siblings and their dental management, whose dental examination led to genetic referral and subsequent diagnosis of KTS. Dental examinations revealed enamel defects consistent with amelogenesis imperfecta, including yellow-brown discoloration, soft enamel, and diastemas in both siblings. The younger sibling, a 9-year-old boy, exhibited early-onset seizures, intellectual disability, spasticity, and a history of kidney stones. The older sibling, a 13-year-old boy, presented with more severe neurodevelopmental delay, early-onset seizures, and drug-resistant epilepsy. Genetic testing confirmed homozygous deletions in the ROGDI gene, leading to the diagnosis of KTS in both siblings. The younger sibling received successful restorative treatment under general anesthesia, while the older sibling’s oral care was managed conservatively due to contraindications for general anesthesia. These cases underscore the importance of pediatric dentists in the early identification of rare genetic disorders such as KTS, especially when dental anomalies like amelogenesis imperfecta are present. Timely referral for genetic evaluation can facilitate accurate diagnosis and appropriate care planning. Moreover, sharing clinical experiences and treatment outcomes contributes to a better understanding of this rare syndrome and helps guide future diagnostic and therapeutic strategies.

Cite this article as: Akbeyaz Şivet E, Akbeyaz İH, Berkel G, Yeşilyurt A, Sezer B, Menteş A. KohlschütterTönz syndrome: A rare clinical entity with amelogenesis imperfecta in two siblings, dental management and scoping review. Turk Arch Pediatr. 2025;60(5):546-551.