Wolland A M
Avdeling for voksenhabilitering, Medisinsk klinikk, Ullevål sykehus, Oslo.
Tidsskr Nor Laegeforen. 1995 Feb 28;115(6):721-2.
A 29 year-old woman was diagnosed as suffering from Rett's syndrome on the bases of clinical examination and a good description of the patient's early development in childhood and adolescence. The woman showed all the typical clinical symptoms and signs of Rett's syndrome. In particular, she had an aggressive and difficult epilepsy. Some of the typical symptoms and signs in childhood Rett's syndrome are less prominent when the patients become adults. It is important that doctors consider Rett's syndrome as a possible cause of mental retardation and multifunctional disability in women.
一名29岁女性经临床检查,并结合对其童年和青春期早期发育的详细描述,被诊断为患有雷特综合征。该女性表现出雷特综合征所有典型的临床症状和体征。特别是,她患有严重且难治的癫痫。当患者成年后,儿童期雷特综合征的一些典型症状和体征会不那么明显。医生应将雷特综合征视为女性智力发育迟缓及多功能残疾的一个可能病因,这一点很重要。