van Urk Paul R, van den Berg Mariëll P, van Royen Barend J, Smeets Eric E J, Curfs Leopold M G
St. Antonius Ziekenhuis, afd. Chirurgie, Nieuwegein.
Ned Tijdschr Geneeskd. 2014;158(3):A6686.
Rett syndrome is caused by mutations in the X-linked MECP2 gene, encoding MeCP2 protein. This protein is essential for the transcription and repression of other genes and is important for the development and plasticity of the central nervous system. Children with Rett syndrome initially develop normally but after a few months their development deteriorates.
The case describes a girl aged 3 years 7 months whose development had initially been normal but then stagnated and was followed by a phase of regression. Her speech was lost and she developed severe dyspraxia with stereotypic hand movements characteristic of the condition. The clinical diagnosis of Rett syndrome was confirmed through genetic testing. Later on she developed epileptic seizures and a severe scoliosis for which surgical correction and stabilisation was carried out.
Rett syndrome is a severe neurological developmental disorder that occurs almost exclusively in females and for which there is still no causal treatment. The treatment is multidisciplinary and based on clinical experience.
瑞特综合征由X连锁的MECP2基因突变引起，该基因编码MeCP2蛋白。这种蛋白质对于其他基因的转录和抑制至关重要，对中枢神经系统的发育和可塑性也很重要。瑞特综合征患儿最初发育正常，但几个月后发育恶化。
该病例描述了一名3岁7个月的女孩，其发育最初正常，但随后停滞，接着进入退化阶段。她失去了语言能力，出现了严重的失用症，并伴有该病特有的刻板手部动作。通过基因检测确诊为瑞特综合征。后来她出现癫痫发作和严重脊柱侧弯，并接受了手术矫正和固定治疗。
瑞特综合征是一种严重的神经发育障碍，几乎仅发生于女性，目前仍无病因治疗方法。治疗是多学科的，基于临床经验。
