Data Management And Sharing System of China National Clinical Research Center for Neurological Diseases
A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
First author：Li Tao-Ran
Corresponding author：Lv Rui-Juan
essential_information
- Person in charge：Li Tao-Ran
- Data Sources： OTHERS
- Number of papers：OTHERS20190828
- Published time：2019-04-18
2019-04-18
Published articles
Journal：Front Neurol
Publication type: Case Report
IF(IF): 4.003
PMID: 31105631 Link To Pubmed Full text Download
Background And Purpose
Method
In the present study, we report a family of patients with very rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. The 24-year-old proband presented with seizures 6 years ago and developed refractory status epilepticus on admission. She had acute encephalopathy accompanied by lactic acidosis, symmetrical putamen and scattered cortical lesions.
Conclusion
Furthermore, we reviewed the previously reported patients with the m.10191T>C mutation and summarized their characteristics. Recognizing the characteristics of these patients will help us improve the clinical understanding of LS or Leigh-like syndrome.
Main results
The video electroencephalogram suggested focal-onset seizures. She harbored the heteroplasmic m.10191T>C mutation in her blood and fibroblasts. Her aunt was diagnosed with mitochondrial disease at the age of 42, and had the heteroplasmic m.10191T>C mutation in her fibroblasts. Her aunt's son (cousin) died of respiratory failure at the age of 8, and we suspected he was also a case of LS.