Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

Biallelic mutations in the elaC ribonuclease Z 2 (ELAC2) gene cause a rare mitochondrial disease, the main features of which are hypertrophic cardiomyopathy, delayed psychomotor development, and usually death during childhood. Only 20 families have been reported with this syndrome. Neither movement disorders nor psychotic features have been described as part of the spectrum of ELAC2 mutations. We describe a patient with a complex hyperkinetic syndrome and acanthocytosis, harboring biallelic ELAC2 mutations.

elaC核糖核酸酶Z2（ELAC2）基因的双等位基因突变可导致一种罕见的线粒体疾病，其主要临床特征为肥厚型心肌病、精神运动发育迟缓，患者通常于儿童期死亡。目前全球仅报道过20个罹患该综合征的家系，且尚无运动障碍或精神病性特征被纳入ELAC2突变相关表型谱的相关报道。本文报道1例携带双等位ELAC2基因突变的患者，其临床表现为复杂多动综合征合并棘红细胞增多症。