Abstract
Chinese Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease. Two boys aged 3 years and 4 years and 2 months respectively, were admitted to the hospital due to delayed mental and motor development. There were no abnormalities at birth, and both children had low muscle strength and tension on admission. One child was not able to stand alone and had impaired vision. Electromyography showed neurogenic damage, and head MRI revealed cerebellar atrophy. High-throughput sequencing revealed compound heterozygous mutations in the PLA2G6 gene in the two children. The mutations (IVS11-1G>T and c.1984C>G) in one child were new mutations, and immunohistochemistry showed a reduction in the protein expression of PLAG6 in the muscular tissue of this child. INAD has the main clinical manifestations of psychomotor developmental regression and cerebellar atrophy. High-throughput sequencing can help with clinical diagnosis. 婴儿神经轴索营养不良（INAD）是一种罕见的神经退行性疾病。该文报道2例男性患儿，年龄分别为3岁、4岁2个月，均以精神运动发育落后/倒退就诊，出生史无异常，目前肌力、肌张力均低下，其中1例患儿已不能独站，且视力下降。肌电图示神经源性损害；头颅MRI示小脑萎缩。全外显子组测序发现2例患儿PLA2G6基因均存在复合杂合突变，其中1例患儿携带的IVS11-1G > T、c.1984C > G突变为新突变，免疫组化示该患儿肌肉组织中PLA2G6蛋白表达量降低。INAD主要临床表现为精神运动发育落后/倒退、小脑萎缩等，基因测序可协助临床确诊。