Multiple mitochondrial dysfunction syndrome 2 caused by BOLA3 gene mutation: a case report and literature review
10.3760/cma.j.cn113694-20220823-00639
- VernacularTitle:BOLA3基因突变致多发性线粒体功能障碍综合征2型1例并文献复习
- Author:
Kaili SHI
1
;
Danchun CHEN
;
Ying LI
;
Wenxiong CHEN
;
Long ZHANG
;
Weiqiang XIAO
;
Ningdong PANG
Author Information
1. 广州市妇女儿童医疗中心神经内科，广州510623
- Keywords:
Mitochondrial diseases;
Lactic acid;
Mutation;
Case reports;
BOLA3 gene
- From:
Chinese Journal of Neurology
2023;56(4):385-391
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report cases of multiple mitochondrial dysfunction syndrome 2 (MMDS2) caused by BOLA3 gene mutation, hoping to help clinical diagnosis. Methods:The medical records of a child with MMDS2 admitted to the Department of Neurology, Guangzhou Women and Children′s Medical Center in November 2021 were analyzed, and the clinical, imaging characteristics and prognosis of MMDS2 were summarized by literature review.Results:This 1 year and 9 months old male had a disease that started in childhood, with motor function regression and hyperlactatemia. Head magnetic resonance imaging indicated white matter lesions, and gene examination indicated the homozygous variation of BOLA3 gene c.295C>T(p.Arg99Trp). The diagnosis of MMDS2 was clear for the child. After treatment, the clinical symptoms and imaging of the child recovered significantly. Through literature review, 13 children with MMDS2 reported in 7 English literatures were reviewed. These cases had similar manifestations with the case reported in this study. Among them, 1 case recovered and 8 cases died in infancy. Conclusions:MMDS2 patients often show nervous system dysfunction such as motor regression, elevated lactate and white matter lesions, which often cause multiple system disorders. Some children die early, but some of them can be recovered.
