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Kohlschutter-Tonz Syndrome - Report of an additional case.

ABSTRACT: Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth. The mental deterioration was associated with speech delay, impulsive behavior, attention-deficit/hyperactivity disorder, and learning problems. The physical examination revealed a reduction of lower third, slightly palpebral fissures, low ear and hair implantation, coarse hair and hypertrichosis. The intraoral examination showed alteration in teeth pigmentation diagnosed as amelogenesis imperfecta. Although rare, the present case report illustrates a syndrome that has dental anomalies and systemic alterations. It is important to recognize this syndrome as early as possible and paediatric dentist may contribute to the diagnosis and consequently to better manage the patients. Key words:Kohlschütter-Tönz syndrome, amelogenesis imperfecta, seizures, mental deterioration.

SUBMITTER: Gonzalez-Arriagada WA

PROVIDER: S-EPMC3892222 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature

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Kohlschütter-Tönz Syndrome - Report of an additional case.

González-Arriagada Wilfredo A WA Carlos-Bregni Román R Contreras Elisa E Almeida Oslei P OP Lopes Marcio A MA

Journal of clinical and experimental dentistry 20130401 2

Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth. The mental deterioration was associated with speech delay, impulsive behavior, attention-deficit/hyperactivity disorder, and learning problems. The physical examination revealed a reduction of lower third, slightly palpebral fissures, low ear and ...[more]

PMID: 24455057

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Project description:PurposeThis study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases.MethodsThis patient was registered at the Children's Hospital of Chongqing Medical University. The patient's symptoms and treatments were recorded in detail, and the patient was monitored for six years. We employed a combination of the following search terms and Boolean operators in our search strategy: Kohlschütter-Tönz syndrome, KTS, and ROGDI. These terms were carefully selected to capture a broad range of relevant publications in PubMed, Web of Science, WHO Global Health Library, and China National Knowledge Infrastructure, including synonyms, variations, and specific terms related to KTS. The pathogenicity of the variants was predicted using SpliceAI and MutationTaster, and the structures of the ROGDI mutations were constructed using I-TASSER.ResultsThis is the first case report of KTS in China. Our patient presented with epilepsy, global developmental delay, and amelogenesis imperfecta. A trio-WES revealed homozygous mutations in ROGDI (c.46-37_46-30del). The brain magnetic resonance imaging (MRI) and video electroencephalogram (VEEG) were normal. The efficacy of perampanel (PMP) in treating seizures and intellectual disability was apparent. Furthermore, 43 cases of ROGDI-related KTS were retrieved. 100% exhibited epilepsy, global developmental delay, and amelogenesis imperfecta. 17.2% received a diagnosis of attention deficit hyperactivity disorder (ADHD), and 3.4% were under suspicion of autism spectrum disorder (ASD). Language disorders were observed in all patients. Emotional disorders, notably self-harm behaviors (9.1%), were also reported.ConclusionROGDI-related KTS is a rare neurodegenerative disorder, characterized by three classic clinical manifestations: epilepsy, global developmental delay, and amelogenesis imperfecta. Moreover, patients could present comorbidities, including ADHD, ASD, emotional disorders, and language disorders. PMP may be a potential drug with relatively good efficacy, but long-term clinical trials are still needed.

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Kohlschutter-Tonz Syndrome - Report of an additional case.

Publications

Kohlschütter-Tönz Syndrome - Report of an additional case.

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