摘要法国‐加拿大型Leigh综合征(Leigh syndrome,French‐Canadian type,LSFC)是一种罕见的常染色体隐性遗传性严重神经系统疾病,于婴儿期起病.我们新报道1例中国地区的LSFC临床特征和基因突变特点.患者,8月龄,男性,临床表现为发育落后、肌张力低、竖头不稳、不能独坐、认知障碍、额头稍小、双眼内斜、癫痫等,基因检测发现患儿LRPPRC基因存在c.2989G>A(新发现)和c.4078G>A的复合杂合突变,结合患儿的临床表现、基因突变和文献资料,患儿确诊为LSFC,行对症康复治疗.基因检测结果,可有助于LSFC患者的早期诊断和遗传咨询,帮助减轻患者及家庭负担.

abstractsLeigh 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.