一名5岁女童出现生长发育迟缓、上睑下垂、眼肌麻痹及破碎红纤维，伴有常见的线粒体DNA缺失。

Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers.

作者信息

Seyrantepe V, Kale G, Topaloglu H, Alikasifoglu A, Ozgüc M

机构信息

Department of Medical Biology, Hacettepe University, Faculty of Medicine, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.

出版信息

Brain Dev. 1999 Sep;21(6):413-5. doi: 10.1016/s0387-7604(99)00035-2.

DOI:10.1016/s0387-7604(99)00035-2

PMID:10487476

Abstract

A girl aged 4 years and 10 months presented with failure to thrive, ptosis, ragged-red fibers and the common 4.9 kb mitochondrial DNA deletion. She had elevated serum lactic and pyruvic acids. The onset was at around 18 months. There were no signs of retinitis, and abnormal renal, liver or pancreatic functions. She later developed mild ophthalmoplegia at 6 years of age. Additional features of chronic progressive external ophthalmoplegia (CPEO) or Kearns-Sayre syndrome (KSS) are the conditions that should be watched and investigated in the long-term follow-up of this girl.

摘要

一名4岁10个月大的女孩出现生长发育迟缓、眼睑下垂、破碎红纤维以及常见的4.9 kb线粒体DNA缺失。她的血清乳酸和丙酮酸水平升高。发病时间约为18个月。没有视网膜病变、肾、肝或胰腺功能异常的迹象。她6岁时后来出现了轻度眼肌麻痹。慢性进行性外眼肌麻痹（CPEO）或卡恩斯-塞尔综合征（KSS）的其他特征是在对这名女孩的长期随访中应密切关注和调查的情况。