Ehlayel M S, Lacassie Y
Department of Pediatrics, Louisiana State University Medical Center, New Orleans 70112-2822, USA.
Am J Med Genet. 1995 Jul 17;57(4):620-5. doi: 10.1002/ajmg.1320570421.
Satoyoshi syndrome is a rare disorder of unknown cause characterized by progressive, painful intermittent muscle spasms, malabsorption, alopecia, amenorrhea, and skeletal abnormalities mimicking a skeletal dysplasia. We describe a 19-year-old Caucasian woman with characteristic manifestations starting at age 9. The report of this patient confirms that this condition is not limited to the Asian population.
笹吉综合征是一种病因不明的罕见疾病,其特征为进行性、疼痛性间歇性肌肉痉挛、吸收不良、脱发、闭经以及类似骨骼发育异常的骨骼畸形。我们描述了一名19岁的白种女性,她从9岁起出现特征性表现。该患者的报告证实了这种疾病并不局限于亚洲人群。