Perampanel Effectiveness in Treating ROGDI-Related Kohlschütter- Tönz Syndrome: First Reported Case in China and Literature Review

Abstract

Purpose This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature on the 43 reported cases. Methods This patient was registered at the Children’s Hospital of Chongqing Medical University. A pathogenic ROGDI variant was identified using trio whole exome sequencing (trio-WES). The patient’s symptoms and treatments were recorded in detail, and the patient was monitored for six years. 43 cases of ROGDI-related KTS were retrieved. The pathogenicity of the variants was predicted using SpliceAI and MutationTaster, and the structures of the ROGDI mutations were constructed using I-TASSER. Results The patient presented with epilepsy, global developmental delay, and amelogenesis imperfecta. A trio-WES revealed homozygous mutations in ROGDI (c.46 − 37_46-30delGGCGGGGC). The MRI and VEEG were normal. The efficacy of perampanel (PMP) in treating seizures and developmental retardation was apparent. Conclusion Our study presented the first case of ROGDI-related KTS in the Chinese population, which added to the existing knowledge of this spectrum disorder. Clinicians may contemplate PMP therapy for KTS patients with epilepsy. Co-occurring conditions of KTS included attention deficit hyperactivity disorder (ADHD), suspected autism spectrum disorder (ASD), and self-harm behaviors.