PT  - JOURNAL ARTICLE
AU  - Zhao, Huan
AU  - Shi, Min
AU  - Yang, Fang
AU  - Yang, Xuhong
TI  - Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation
AID  - 10.17712/nsj.2022.2.20210123
DP  - 2022 Apr 01
TA  - Neurosciences Journal
PG  - 111--115
VI  - 27
IP  - 2
4099  - http://nsj.org.sa/content/27/2/111.short
4100  - http://nsj.org.sa/content/27/2/111.full
SO  - Neurosciences (Riyadh)2022 Apr 01; 27
AB  - Kearns-Sayre Syndrome (KSS) is a subtype of chronic progressive external ophthalmoplegia (CPEO). In this case, A 21-year-old man diagnosed with KSS, and presented with chronic progressive blepharoptosis (ptosis) and external ophthalmoplegia, diffuse depigmentation of the retinal pigment epithelium, and cerebellar ataxia, with a cerebrospinal fluid protein of 254 mg/dL, was reported. Genetic screening revealed a novel mutated gene in SLC25A4 in the patient as well as in his mother: NM_001151:c.170G>C in exon 2. Its imaging finding is a characteristic progressive atrophy of the right cerebellar hemisphere. In conclusion, we found a case of KSS with a novel mutated gene in SLC25A4: NM_001151:c.170G>C in exon 2 as the pathogenic mechanism, and found that KSS can be caused only when the proportion of mutations in the SLC25A4 gene reach a certain degree, and the patient with KSS showed a unique cranial imaging feature of unilateral progressive cerebellar atrophy.