Abstract：
BACKGROUND: KohlschüttereTönz syndrome (KTS), also called amelo-cerebro-hypohidrotic syndrome, is a very rare genetic condition, described for the first time by Kohlschutter, which typically manifests as a triad of symptoms: amelogenesis imperfecta, infantile onset epilepsy, and intellectual disability. 47 cases were reported in English language literature since 1974-2021.
METHODS: A 7-year-old girl was referred for dental evaluation. Oral examination revealed yellowish color of all the teeth due to enamel hypoplasia. The radiographic exam revealed a thin layer of enamel with decreased radiopacity of the enamel compared to that of dentin. The diagnosis of amelogenesis Imperfecta was established. In addition to that, the child\'s parents reported that she had spasticity, epileptic seizures and psychomotor developmental delay. The association of all these features leads us to conclude to KTS.
CONCLUSIONS: It seems that numerous cases of KTS are still undiagnosed in the world, so this paper highlights the common clinical features of Kohlschütter-Tönz Syndrome helping to an early diagnosis and more research about this condition.
METHODS: A 7-year-old girl was referred for dental evaluation. Oral examination revealed yellowish color of all the teeth due to enamel hypoplasia. The radiographic exam revealed a thin layer of enamel with decreased radiopacity of the enamel compared to that of dentin. The diagnosis of amelogenesis Imperfecta was established. In addition to that, the child\'s parents reported that she had spasticity, epileptic seizures and psychomotor developmental delay. The association of all these features leads us to conclude to KTS.
CONCLUSIONS: It seems that numerous cases of KTS are still undiagnosed in the world, so this paper highlights the common clinical features of Kohlschütter-Tönz Syndrome helping to an early diagnosis and more research about this condition.
摘要：
背景：KohlschüttereTönz综合征（KTS），也被称为阿米洛-大脑-低汗症综合征，是一种非常罕见的遗传病，Kohlschutter第一次描述,这通常表现为三位一体的症状:牙釉质不全症，婴儿发作性癫痫，智力残疾。自1974-2021年以来，英语文献中报告了47例病例。
方法：一名7岁女孩接受牙科评估。口腔检查显示，由于牙釉质发育不全，所有牙齿呈黄色。射线照相检查显示，与牙本质相比，釉质的射线不透性降低了。建立了牙釉质发生不全症的诊断。除此之外,孩子的父母报告说她有痉挛状态，癫痫发作和精神运动发育迟缓。所有这些功能的关联使我们得出KTS的结论。
结论：似乎世界上仍有许多KTS病例未被诊断，因此，本文重点介绍了Kohlschütter-Tönz综合征的常见临床特征，有助于早期诊断和更多关于这种情况的研究。
方法：一名7岁女孩接受牙科评估。口腔检查显示，由于牙釉质发育不全，所有牙齿呈黄色。射线照相检查显示，与牙本质相比，釉质的射线不透性降低了。建立了牙釉质发生不全症的诊断。除此之外,孩子的父母报告说她有痉挛状态，癫痫发作和精神运动发育迟缓。所有这些功能的关联使我们得出KTS的结论。
结论：似乎世界上仍有许多KTS病例未被诊断，因此，本文重点介绍了Kohlschütter-Tönz综合征的常见临床特征，有助于早期诊断和更多关于这种情况的研究。
