Kohlschütter-Tönz syndrome
| Classification according to ICD-10 | |
|---|---|
| G40.8 | Other epilepsies |
| ICD-10 online (WHO version 2019) | |
The Kohlschütter-Tönz syndrome is a very rare congenital disease with the main features amelogenesis imperfecta (a congenital enamel hypoplasia), seizures , and mental deterioration.
Synonyms are: amelo-cerebro-hypohidrotic syndrome; Epilepsy - Dementia - Amelogenesis imperfecta
The first description comes from 1974 by the German pediatrician Alfried Kohlschütter (born July 3, 1940 in Essen), the Swiss pediatrician Otmar Tönz (born November 7, 1926 in St. Gallen; † August 28, 2016 in Lucerne) and employees.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
Of the disease are mutations in ROGDI - gene on chromosome 16 locus p13.3 based encoding a leucine zipper encoded protein or in the SLC13A5 gene on chromosome 17 locus P13.1 coding for a transporter tricarboxylate plasma coded.
Clinical manifestations
Clinical criteria are:
- Manifestation in newborns to infancy
- Amelogenesis imperfecta with teeth turning yellow
- epileptic seizures
- cognitive decline
diagnosis
The diagnosis results from the combination of clinical findings and the human genetic examination
literature
- A. Tucci, E. Kara, A. Schossig, NI Wolf et al .: Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. In: Human Mutation . Volume 34, number 2, February 2013, pp. 296-300, doi: 10.1002 / humu.22241 , PMID 23086778 , PMC 3902979 (free full text).
- A. Schossig, N. Wolf et al. a .: Epileptic encephalopathy and tooth enamel defect (Kohlschütter-Tönz syndrome). In: Medical Genetics. 19, 2007, p. 422, doi: 10.1007 / s11825-007-0053-z
Individual evidence
- ↑ a b c Amelo-cerebro-hypohidrotic syndrome. In: Orphanet (Rare Disease Database).
- ↑ https://query-staatsarchiv.lu.ch/detail.aspx?ID=1825962
- ^ A. Kohlschütter, D. Chappuis, C. Meier, O. Tönz, F. Vassella, N. Herschkowitz: Familial epilepsy and yellow teeth - a disease of the CNS associated with enamel hypoplasia. In: Helvetica paediatrica acta. Volume 29, Number 4, October 1974, pp. 283-294, PMID 4372200 .
- ↑ Kohlschutter-Tonz syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ Anna Schossig, Agnès Bloch-Zupan u. a .: SLC13A5 is the second gene associated with Kohlschütter – Tönz syndrome. In: Journal of Medical Genetics. 54, 2016, p. 54, doi: 10.1136 / jmedgenet-2016-103988 .
