探讨婴儿神经轴索营养不良的诊断学特征。

回顾性分析2020年5月15日济宁市第一人民医院儿童康复科收治的1例婴儿神经轴索营养不良患儿的临床资料，并复习相关文献。

患儿女性，13月龄，主要临床表现为精神运动发育倒退，肌张力减低，双侧巴宾斯基征阳性；颅脑磁共振成像T₂加权像显示双侧苍白球高信号，肌电图显示神经源性损害。应用家系全外显子测序检测发现，患儿磷脂酶A2第6型(PLA2G6)基因外显子区域存在两处变异位点：c.1771 C>T(p.R591W)和c.2150 T>C(p.L717P)，确诊为婴儿神经轴索营养不良。Sanger测序验证显示2个突变分别来源于母亲和父亲，为复合杂合突变；c.1771 C>T为已报道的致病性突变，c.2150 T>C为首次报道，且在正常人群中未检测到，软件预测有害。

婴儿神经轴索营养不良主要表现为精神运动发育倒退，肌张力减低和病理征阳性，高通量测序技术可作为婴儿神经轴索营养不良的首选确诊手段。

To explore the diagnostic features of infantile neuroaxonal dystrophy (INAD).

The clinical data of a 13 month female baby with INAD who was diagnosed in the Department of Pediatric Rehabilitation of First People′s Hospital of Jining on May 15, 2020 were retrospectively analyzed, and relevant literatures were reviewed.

The infant was mainly presented with progressive psychomotor deterioration, truncal hypotonia and positive pathological signs. The cerebral magnetic resonance imaging (MRI) showed signal hyperintensity of the globus pallidus in T₂-weighted images (T₂WI). An electromyography also showed denervation in the peripheral nervous system. The diagnosis was confirmed by molecular genetic study of the phospholipase A2 type 6 (PLA2G6) gene, and there were two missense mutations, c. 1771 C>T (p.R591W) and c. 2150 T>C (p.L717P). The results of Sanger sequencing showed that the 2 mutations were from her mother and father respectively and were compound heterozygous mutations. The c. 1771 C>T site had been reported to be a pathogenic mutation. The c. 2150 T>C which was first reported had not been detected in the nomal population and predicted to be harmful.

INAD has the main clinical manifestations of psychomotor regression, muscular dystonia, and positive pathological signs.Next-generation sequencing technologies can be considered to be the preferred means of clinical diagnosis of INAD.