LPIN2基因突变致Majeed综合征1例

A case of Majeed syndrome caused by LPIN2 gene mutation

Majeed综合征是一种十分罕见的常染色隐性遗传病,该病由LPIN2基因突变所致,临床上可表现为反复骨痛、贫血、皮疹。本文报道了1例因“反复关节疼痛”就诊的5岁1月龄患儿。基因检测提示LPIN2基因存在复合杂合突变:c0.675_678dupTGGA和c.2443-1G>C,考虑患儿临床表现符合Majeed综合征,且对非甾体药物治疗效果不佳,故诊断。本病尚无特效治疗,预后不明。

Majeed syndrome is a very rare autosomal recessive disorder caused by mutations in the LPIN2. Clinically,it can manifest as recurrent bone pain, anemia, and rash. This article reports a case of a 5-year-old 1-month-old child who presented with “recurrent joint pain”. Genetic testing revealed compound heterozygous mutations in LPIN2: c0.675_678dupTGGA and c.2443-1G>C. Considering that the clinical manifestations of the child were consistent with Majeed syndrome, and the treatment effect of non-steroidal drugs was not good, the diagnosis was made. There is no effective treatment for this disease, and the prognosis is unclear.