A case of Leigh syndrome presented with paroxysmal body swing
Jia Zhang,
Jing Gan,
Jianjun Wang
Affiliations
Jia Zhang
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China; Key Laboratory of Obstetrics & Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education, Sichuan University, Chengdu, Sichuan, China; Key Laboratory of Development and Maternal and Child Diseases of Sichuan Province, China
Jing Gan
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China; Key Laboratory of Obstetrics & Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education, Sichuan University, Chengdu, Sichuan, China; Key Laboratory of Development and Maternal and Child Diseases of Sichuan Province, China
Jianjun Wang
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China; Key Laboratory of Obstetrics & Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education, Sichuan University, Chengdu, Sichuan, China; Key Laboratory of Development and Maternal and Child Diseases of Sichuan Province, China; Corresponding author. No. 20, Section Three, South Renmin Road, Chengdu, 610041, China.
Background: Leigh syndrome (LS) is a heterogeneous neurodegenerative disease that is the most common manifestation of mitochondrial disease in children. Methods: We report a case of Leigh syndrome with paroxysmal body swing in a 1-year-old boy. Results: The boy presented with paroxysmal body swing, and the electroencephalogram showed no epileptic discharge during the paroxysmal episode. It was determined to be a nonepileptic seizure, which was the first LS phenotype described. After treatment with a vitamin cocktail, the paroxysmal body swing improved. Conclusion: LS should be considered for children with onset of infantile and paroxysmal body swing combined with developmental regression, and early mitochondrial genetic testing can aid in diagnosis and guide early intervention.
