De Souza C M, Souza J, Furtado C M G, Cleto J L T, Antoniuk S A, Raskin S
Rua Saldanha Marinho, 1782, Curitiba Parana 80730-180 Brazil; Tel: +55-41-33066838, e-mail:
Oral Health Dent Manag. 2014 Sep;13(3):728-30.
Kohlschütter-Tönz syndrome is a rare neurodegenerative disorder presenting with intractable seizures, developmental regression, and characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta. Recently, mutations in ROGDI were identified in part of Kohlschütter-Tönz syndrome cases, but the siblings reported here do not have a mutation in the ROGDI gene, showing that there is genetic heterogeneity in Kohlschütter-Tönz syndrome.
Report two siblings that have Kohlschütter-Tönz syndrome.
Early onset of seizures and lack of the ability to walk without support may be signs of non-ROGDI mutations in Kohlschütter-Tönz syndrome patients.
科尔施许特-滕茨综合征是一种罕见的神经退行性疾病，表现为顽固性癫痫发作、发育倒退以及提示釉质发育不全的特征性牙釉质发育不良。最近，在部分科尔施许特-滕茨综合征病例中发现了ROGDI基因突变，但此处报告的这对兄弟姐妹并无ROGDI基因突变，这表明科尔施许特-滕茨综合征存在遗传异质性。
报告两例患有科尔施许特-滕茨综合征的兄弟姐妹。
癫痫发作早发且无法在无支撑的情况下行走可能是非ROGDI基因突变的科尔施许特-滕茨综合征患者的体征。
