Satoyoshi E
Neurology. 1978 May;28(5):458-71. doi: 10.1212/wnl.28.5.458.
A syndrome of progressive muscle spasm, alopecia, and diarrhea was seen in 15 patients. The syndrome was characterized by painful intermittent muscle spasm, alopecia, amenorrhea, and malabsorption, and was sometimes associated with epiphyseal destruction and retarded growth. Symptoms began at age 10 and were more common in women than men. Muscle cramps affected the limbs first and then, several years after onset, the neck, trunk, and masticatory muscles. The course was progressive and led to malnutrition. Four patients died from 5 to 18 years after onset. Autopsy revealed polypoid changes throughout the gastrointestinal tract.
15名患者出现了进行性肌肉痉挛、脱发和腹泻综合征。该综合征的特征为疼痛性间歇性肌肉痉挛、脱发、闭经和吸收不良，有时还伴有骨骺破坏和生长发育迟缓。症状始于10岁，女性比男性更常见。肌肉痉挛首先影响四肢，然后在发病数年后影响颈部、躯干和咀嚼肌。病程呈进行性发展，导致营养不良。4例患者在发病后5至18年死亡。尸检显示整个胃肠道有多发性息肉样改变。
