• Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, and Yan-Lei Hao.
• Department of Neurology, Affiliated Hospital of Jining Medical College, Jining, Shandong, People's Republic of China.
• Medicine (Baltimore). 2017 Dec 1; 96 (48): e8869.

RationaleChronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus."Patient ConcernsWe report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions.DiagnosesThe patient was diagnosed as exhibiting CPEO plus syndrome.InterventionsThe patient underwent clinical, genetic, histological, and histochemical analysis. She was treated orally with CoQ10, vitamin Bs, L-carnitine, and vitamin E.OutcomesThe patient's serum creatine kinase levels, electrocardiography, and nerve conduction study results were normal; an electromyogram revealed myopathic findings. Magnetic resonance imaging showed global brain atrophy, particularly in the brainstem and cerebellum areas. A muscle biopsy showed the presence of abundant ragged red fibers. Sequencing of the mitochondrial DNA from the skeletal muscle biopsy revealed C960del mutation in 12S rRNA and homozygous mutation C2835T in 16S rRNA. She took medicines on schedule, the clinical features were similar as 2 years ago.LessonsThis is the first report of 2 rRNA mutations in a patient with MRI findings showing global brain atrophy, particularly in brainstem and cerebellum areas. Early recognition and appropriate treatment is crucial. This case highlights the cerebellar ataxia can occur in CPEO plus.

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