A Very Rare Syndrome of Tooth Enamel; Kohlschütter–Tönz Syndrome: A Case Report and Review

Year 2021, Volume: 10 Issue: 1, 53 - 58, 28.01.2021

Halil Erhan Ersoy , Süleyman Bozkaya , Emre Barış , Nur Mollaoğlu

Abstract

Kohlschütter–Tönz Syndrome (KTS) is a very rare syndrome described by Kohlschütter in 1974. It is characterized by amelogenesis imperfecta, persistent epileptic seizures, spasticity and developmental delay. In this case report, we present a 9 year-old boy who was diagnosed as KTS together with a literature review. Dental history and clinical examination revealed that patient suffered from severe enamel defects of teeth, along with drug-resistant epileptic seizures and mental retardation since the age of five months. He had a dental examination and extractions under nitrous oxide sedation because of mental retardation. Literature review performed up to now indicates a total of 52 KTS patients that have been reported in the literature. This is the first reported KTS case from Turkey. For this reason, it can make a great contribution to the dental clinics in the context of raising awareness and informing the parents of such syndromic patients in proper.

Keywords

Amelogenesis imperfecta, Drug resistant epilepsy, Kohlschütter-Tönz Syndrome

Diş Minesini İlgilendiren Nadir Bir Sendrom; Kohlschütter-Tönz Sendromu: Olgu Sunumu ve Literatür Derlemesi

Abstract

Kohlschütter-Tönz Sendromu (KTS), amelogenezis imperfekta, ilaca dirençli epileptik nöbetler, spastisite ve gelişimsel gerilik ile karakterize olan ve 1974 yılında Kohlschütter tarafından tanımlanmış, oldukça nadir görülen bir sendromdur. Bu makalede Türkiye’den ilk KTS vakası bildirilmektedir. Bu olgu raporunda, bir yıl önce KTS tanısı konulmuş olan 9 yaşında bir erkek çocuk literatür derlemesi ile birlikte sunulmaktadır. Bu vakada alınan anamnez ve klinik muayenede hastanın dişlerinde şiddetli mine defekti olduğu ve beş aylıktan itibaren ilaca dirençli epileptik nöbetler ve mental retardasyon şikayetlerine sahip olduğu saptanmıştır. İleri derece mental retardasyon nedeniyle dental muayene ve diş çekim işlemleri nitröz oksit sedasyonu altında yapılarak hasta takip altına alınmıştır. Yapılan literatür taramalarında, tüm dünyada günümüze kadar toplam 52 KTS vakası bildirilmiş olduğu saptanmıştır. Vakamız Türkiye’den bildirilen ilk KTS vakasıdır. Bu nedenle Diş Hekimliği kliniğinde, farkındalık yaratmak ve hasta ebeveynlerinin doğru bilgilendirilebilmesi bağlamında büyük katkı sağlayacaktır.

Keywords

Amelogenezis imperfekta, Kohlschütter–Tönz Sendromu, İlaca dirençli epilepsi

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