- 期刊
Schwartz-Jampel Syndrome: Report of One Case
Schwartz-Jampel症候群：一病例報告
摘要
Schwartz-Jampel症候群中一種罕見體染色體隱性遺傳的離子通道疾病。吾人介紹一位二歲九個月的女孩，從出生便表現四肢肌肉殭硬及肥大，此外尚有髖關節發育不良，面具臉，肌強直及類似機械人的走路步態。 肌電圖顯示特徵的高頻自發電位，沒有明顯強弱變化。長骨檢查顯示髖臼變淺。綜合上述各點，吾人診斷其爲Schwartz-Jampel症候群。該病人接受lidocaine後肌強直獲得改善，於是吾人嘗試口服mexiletine治療，病人症狀獲得緩解。
並列摘要
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.
延伸閱讀
- Horng, M. J., Tsai, F. J., & Tsai, C. H. (1992). Hypoglossia-hypodactylia症候群：二病例報告. Acta Paediatrica Sinica, 33(4), 300-306. https://www.airitilibrary.com/Article/Detail?DocID=00016578-199208-33-4-300-306-a
- 顏宗弦、胡克信（1997）。Kartagener氏症候群－病例報告。中華民國耳鼻喉科醫學會雜誌，32(5)，450-454。https://doi.org/10.6286/1997.32.5.450
- Ko, Y. C., Yen, M. Y., Wang, A. G., Hsu, W. M., & Liu, J. H. (2000). Wolfram氏症候群－病例報告. 中華民國眼科醫學會雜誌, 39(2), 207-212. https://doi.org/10.30048/ACTASOS.200006.0011
- Wu, H. C., Lin, L. H., Tsai, L. P., Huang, C. H., Hung, K. L., & Liao, H. T. (2006). Pallister-Killian症候群：一病例報告. Acta Paediatrica Taiwanica, 47(3), 139-141. https://doi.org/10.7097/APT.200606.0139
- 林棋民、蔡鶴峰、吳志順、馬鴻均（1995）。Peutz-Jeghers症候群：病例報告。Journal of Medical Sciences，16(3)，182-188。https://www.airitilibrary.com/Article/Detail?DocID=10114564-199512-201306200025-201306200025-182-188