- 期刊
Marinesco-Sjögren Syndrome: Report of One Case
Marinesco-Sjögren症候群：一病例報告
摘要
茲報告一例三歲男童罹患Marinesco-Sjögren syndrome，此乃一種較罕見的隱性遺傳的神經退化性疾病。其症狀為嬰兒前期即出現精神動作發育遲緩，肌肉張力低下，並且於坐及站姿均有運動失調。視力不良也在二歲左右被證實為先天性白內障。其雙親為表兄妹之近親結婚，家中六位小孩另有二位罹患本症。病患的腦部電腦斷層顯示小腦萎縮，腦幹誘發電位亦顯示中樞性病灶。其肌電圖及肌肉切片均顯示肌肉病變型式。患孩在接受人工水晶體植入術後出院並接受復健治療。
關鍵字
無資料並列摘要
A three-year-old Taiwanese boy with Marinesco-Sjögren syndrome is reported. Psychomotor retardation had been noticed since early infancy with hypotonia, muscle weakness, delayed motor milestones and imbalance in sitting and standing. Bilateral visual impairment proved to be congenital cataract. Speech was limited to a few words. The parents were consanguineous, and there are two similarly affected siblings. The brain computed tomography revealed cerebellar atrophy. The evoked potential studies indicated a central origin or brainstem lesion. The histopathologic study of the muscle showed variation in fiber size and regenerating fibers. The patient received intraocular lens implantation and was discharged under a home rehabilitation program.
延伸閱讀
- Tan, C. K., Tsai, F. J., Lin, C. C., Wu, J. Y., Yu, M. T., Hsu, S. L., Shi, Y. R., Chang, J. C. Y., & Lai, S. W. (2000). Wolf-Hirschhorn症候群：一病例報告. Acta Paediatrica Taiwanica, 41(1), 39-42. https://doi.org/10.7097/APT.200002.0039
- Lin, J. C., Kuo, S. Y., Lai, C. H., Chang, M. L., Chu, S. J., & Chang, D. M. (1999). Marfan症候群的症狀表現及治療：一病例報告. Journal of Medical Sciences, 19(6), 360-364. https://www.airitilibrary.com/Article/Detail?DocID=10114564-199906-201305290004-201305290004-360-364
- Yang, M. T., Yang, C. C., Chu, L. W., Lee, W. T., Young, C., & Wang, P. J. (2002). Schwartz-Jampel症候群：一病例報告. Acta Paediatrica Taiwanica, 43(4), 220-223. https://doi.org/10.7097/APT.200208.0220
- 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
- 吳志修、楊怡和（1993）。Lermoyez氏症候群－病例報告。中華民國耳鼻喉科醫學會雜誌，28(6)，395-398。https://doi.org/10.6286/1993.28.6.395