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笹之冈综合征

Satoyoshi syndrome.

作者信息

Wisuthsarewong W, Likitmaskul S, Manonukul J

机构信息

Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

出版信息

Pediatr Dermatol. 2001 Sep-Oct;18(5):406-10. doi: 10.1046/j.1525-1470.2001.01966.x.

Abstract

Satoyoshi syndrome is a very rare disorder of unknown etiology, characterized by progressive, intermittent, painful muscle spasms, alopecia universalis, diarrhea or unusual malabsorption, various endocrine disorders, and secondary skeletal abnormalities. This report describes a 9-year-old Thai girl who developed alopecia universalis when she was 6 years old. At age 7 years, she began to have recurrent, painful muscle spasms. The spasms progressed in time, producing recurrent patella dislocation. The laboratory investigations and radiologic study were compatible with Satoyoshi syndrome. She was treated with oral corticosteroid therapy, with marked improvement of her muscle spasms and alopecia. She underwent corrective surgery for deformities of both knees with a normal healing process.

摘要

里吉氏综合征是一种病因不明的极为罕见的疾病,其特征为进行性、间歇性的疼痛性肌肉痉挛、全秃、腹泻或异常吸收不良、各种内分泌紊乱以及继发性骨骼异常。本报告描述了一名9岁的泰国女孩,她在6岁时出现了全秃。7岁时,她开始反复出现疼痛性肌肉痉挛。随着时间的推移,痉挛逐渐加重,导致复发性髌骨脱位。实验室检查和影像学研究结果与里吉氏综合征相符。她接受了口服皮质类固醇治疗,肌肉痉挛和脱发症状明显改善。她接受了双膝畸形矫正手术,愈合过程正常。

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