Chen Szu-Ta, Fan Pi-Chuan, Hwu Wuh-Liang, Wu Mei-Hwan
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
J Child Neurol. 2008 Dec;23(12):1447-50. doi: 10.1177/0883073808318541. Epub 2008 Sep 4.
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.
肌阵挛性癫痫伴破碎红纤维（MERRF）综合征是主要的线粒体脑肌病之一，可累及多个器官，由线粒体A8344G DNA突变引起。骨单发性纤维发育不良是一种无症状的发育障碍，据报道是由成骨细胞中c-fos过度表达所致。线粒体A8344G突变已被证明可增加MERRF杂交细胞系中的c-fos表达。作者描述了一名10岁2个月大患有MERRF综合征和A8344G突变的男孩。在诊断为MERRF后5个月，视力障碍出现并迅速恶化。脑部磁共振成像显示蝶骨纤维发育不良对视神经造成压迫，组织学检查证实了这一点。文献中从未提及MERRF患者出现纤维发育不良。这种罕见的关联可能是因为漏诊，也可能是巧合。对于有局灶性症状的MERRF患者，应注意检查其骨骼系统。
