https://scholars.lib.ntu.edu.tw/handle/123456789/565486
標題: | Schwartz-Jampel syndrome: Report of one case | 作者: | Yang M.-T. Chih-Chao Yang Chu L.-W. WANG-TSO LEE Young C. Wang P.-J. |
關鍵字: | Mexiletine; Myotonia; Schwartz-Jampel syndrome | 公開日期: | 2002 | 卷: | 43 | 期: | 4 | 起(迄)頁: | 220-223 | 來源出版物: | Acta Paediatrica Taiwanica | 摘要: | We report a case of Schwartz-Jampel syndrome in a 2-year-9-month-old Taiwanese girl and her clinical response to treatment. She had a history of generalized muscle stiffness and hypertrophy since birth. Clinical and electromyographic myotonia were noted. Other clinical features included short stature, unusual facial appearance, ophthalmoplegia, elbow joint contractures, and developmental hip dysplasia. Muscle stiffness and myotonia improved after infusion of lidocaine. She then received oral mexiletine and the symptoms significantly improved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0036630717&partnerID=40&md5=2d535a5f11cdf990ec4c4d638819fecb https://scholars.lib.ntu.edu.tw/handle/123456789/565486 |
ISSN: | 1608-8115 | SDG/關鍵字: | lidocaine; mexiletine; article; case report; clinical feature; disease course; electromyography; female; human; muscle stiffness; myotonia; preschool child; Schwartz Jampel syndrome; Child, Preschool; Female; Humans; Lidocaine; Mexiletine; Osteochondrodysplasias |
顯示於: | 醫學系 |
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