Leigh syndrome (French Canadian type) caused by compound heterozygous mutations of LRPPRC gene: a case report

VernacularTitle: LRPPRC基因复合杂合突变致French-Canadian型Leigh综合征一例
Author: Xiaoming LIU ¹ ; Xuan YUE ; Jiao CHEN ; Haixia WANG
Author Information

1. Department of Neurology, Xuzhou Children′s Hospital, Xuzhou, Jiangsu 221006, China
Publication Type:Case Reports
Keywords: Leigh syndrome, French-Canadian type; LRPPRC gene; Gene sequencing; Infant
From: Chinese Journal of Neurology 2019;52(11):941-944
CountryChina
Language:Chinese
Abstract: Leigh syndrome (French-Canadian type, LSFC) is a rare autosomal recessive hereditary severe neurological disorder that begins in infancy. Herein we report a case with LSFC in China. The patient was 8 months old, male, whose clinical manifestations included delayed development, low muscle tone, unstable vertical head, inability to sit alone, cognitive impairment, slightly smaller forehead, oblique eyes, epilepsy, etc. Gene sequencing results showed that the LRPPRC gene in the infant had complex heterozygous mutations of c.2989G>A (newly reported) and c.4078G>A. Combined with the clinical manifestations, gene mutations and literatures, the infant was diagnosed as LSFC, and symptomatic rehabilitation was performed. The results of genetic testing can contribute to the early diagnosis and genetic counseling of LSFC patients, and help reduce the burden on the patients and their families.