Awada A, al Rajeh S, al Qorain A, al Ghassab G
Department of Neurology, King Faisal University, Arabie Saoudite.
Rev Neurol (Paris). 1990;146(4):306-7.
Reports on Wilson's disease from Arab countries in the Middle East are rare, while the high frequency of consanguineous marriages should increase the prevalence of autosomal recessive diseases. The case of a 20-year old woman, born from first degree cousins in a relatively isolated area of Saudi Arabia, is reported. The presentation initially led to the diagnosis of catatonic schizophrenia but neurological deterioration occurred rapidly. Brain CT was normal 2 months after the clinical onset of the disease but showed necrosis of both putamens 15 months later. Diagnostic difficulties and the rapid brain CT changes are commented.
中东阿拉伯国家关于威尔逊氏病的报告很少见,而近亲结婚的高频率本应增加常染色体隐性疾病的患病率。本文报告了一名20岁女性的病例,她出生于沙特阿拉伯一个相对隔绝地区的近亲(一级表亲)家庭。该病例最初被诊断为紧张型精神分裂症,但随后迅速出现神经功能恶化。疾病临床发作2个月后脑部CT检查结果正常,但15个月后显示双侧壳核坏死。文中对诊断困难及脑部CT的快速变化进行了讨论。