https://scholars.lib.ntu.edu.tw/handle/123456789/525965
標題: | Fibrous dysplasia in a child with mitochondrial A8344G mutation | 作者: | Chen S.-T. PI-CHUAN FAN WUH-LIANG HWU MEI-HWAN WU |
公開日期: | 2008 | 卷: | 23 | 期: | 12 | 起(迄)頁: | 1447-1450 | 來源出版物: | Journal of Child Neurology | 摘要: | Myoclonic epilepsy associated with ragged red fibers (MERRF) syndrome is one of the major mitochondrial encephalomyopathies, with the involvement of various organs, which could be caused by mitochondrial A8344G DNA mutation. Monostotic fibrous dysplasia of bone, an asymptomatic developmental disorder, was reported to result from c-fos overexpression in osteogenic cells. Mitochondrial A8344G mutation has been shown to increase c-fos expression in a MERRF cybrid cell line. The authors describe a boy aged 10 years and 2 months with MERRF syndrome and A8344G mutation. Visual disturbance developed and deteriorated rapidly 5 months after the diagnosis of MERRF. A brain magnetic resonance imaging revealed optic nerve compression by sphenoid fibrous dysplasia, which was confirmed by histology. Fibrous dysplasia has never been mentioned in MERRF patients in the literature. This rare association may be because of underestimation, or it could be a coincidence. Care should be taken to explore the skeletal system in MERRF patients with focal symptoms. ? 2008 Sage Publications. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-57749205365&doi=10.1177%2f0883073808318541&partnerID=40&md5=970753da1d8672a901e144de725891d2 https://scholars.lib.ntu.edu.tw/handle/123456789/525965 |
ISSN: | 0883-0738 | DOI: | 10.1177/0883073808318541 | SDG/關鍵字: | adenosine; carnitine; carvedilol; guanosine; mitochondrial DNA; protein c fos; ubidecarenone; article; case report; clinical feature; disease association; disease course; echocardiography; electrocardiography; electroencephalography; family history; fibrous dysplasia; gene mutation; gene overexpression; genetic screening; heart left ventricle hypertrophy; histopathology; human; human tissue; immunohistochemistry; laboratory test; male; MERRF syndrome; mutational analysis; nerve compression; neurologic examination; nuclear magnetic resonance imaging; optic nerve injury; optical coherence tomography; osteoblast; physical examination; priority journal; restriction fragment length polymorphism; school child; visual disorder; Wolff Parkinson White syndrome; Child; DNA, Mitochondrial; Humans; Male; MERRF Syndrome; Mitochondrial Encephalomyopathies; Mutation |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。