Satoyoshi综合征1例报道及文献复习

A case report and review of Satoyoshi syndrome

目的 报道国内首例 30岁 Satoyoshi综合征女性患者的临床特征。方法 体格检查、血液生化检查和影像学检查。结果 本例患者除具有进行性发作性痛性痉挛、脱发、腹泻外 ,还有闭经、乳腺增生等。血液生化检查显示血皮质醇、甲状旁腺素水平降低。头颅 MR显示双侧额顶深部小点状信号改变。结论 对临床表现为进行性痛性痉挛、脱发、腹泻的患者 ,要考虑 Satoyoshi综合征的诊断。

Objective To study the clinical features of the first case with Satoyoshi syndrome in China. Methods To analyse the clinical,laboratory and imaging manifestations of a patient with Satoyoshi syndrome (30 years old,female). Results The clinical findings included the major features of the syndrome,namely progressive painful muscle spasm or cramps,alopecia and diarrhea. Amenorrhea and breast hyperplasia were also present. MRI showed speckled signal changes in bilateral frontal and parietal lobes. Conclusion It is necessary for a neurologist to be aware of Satoyoshi syndrome whenever he observes progressive muscle spasm combined with alopecia and diarrhea.