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.