NKX6-2 encodes a transcription factor involving the genesis and development of oligodendrocytes.Mutations in the NKX6-2 gene are related to a severe variant of hypomyelinating leukodystrophy, namely the NKX6-2-related spastic ataxia type 8 (SPAX8). As of March 24, 2020, there are 36 cases of SPAX8 involving 11 mutations of the NKX6-2 gene, which has not been reported in Chinese population.This article for the first time reported a 31-month-old Chinese boy diagnosed as SPAX8 caused by a novel mutation of the NKX6-2 gene at c. 234dup(p.Leu79Alafs*? ) admitted to the Department of Rehabilitation, Guangdong Women and Children Hospital in October 2019 retrospectively.He presented severe global psychomotor delay, spasticity, nystagmus, hearing impairment and trichiasis, ametropia of both eyes, and retinal degeneration of the right eye, which have not been reported in previous cases.His elder sister presented relevant manifestations, but did not perform the genetic testing.Through this case report and literature review, the genotype and phenotype of SPAX8 were expanded.

Objective:To compare the efficacy of augmentation suture and direct suture in treatment of acute Achilles tendon ruptures so as to provide evidences for the selection of surgical methods.Methods:A systematic search was conducted in PubMed, Web of Science, EMBASE, CNKI and Wanfang database for studies of augmentation suture versus direct suture of acute Achilles tendon ruptures. Literatures were retrieved from January 1990 to January 2019. Literatures were screened according to the pre-set inclusion and exclusion criteria, and the rating of included literature was strictly evaluated by the Cochrane System Evaluation Manual and Newcastle-Ottawa scale (NOS). The relevant data were analyzed using RevMan 5.3 to compare patient satisfaction, rerupture rate, infection rate, ankle's range of motion and other complications (postoperative calf atrophy, plantar flexion, plantar flexion strength).Results:Eight articles involving 558 patients were identified including 273 patients in augmentation suture group and 285 patients in direct suture group. There were no significant differences between two groups in aspects of patient satisfaction ( OR=1.00, 95% CI 0.54-1.84, P>0.05), rerupture rate ( OR=0.75, 95% CI 0.34-1.66, P>0.05), infection rate ( OR=1.73, 95% CI 0.76-3.94, P>0.05), ankle's range of motion ( OR=0.97, 95% CI 0.33-2.87, P>0.05) and other complications rate ( OR=1.93, 95% CI 0.91-4.09, P>0.05). Meantime, the two groups showed similar effect on postoperative calf atrophy and average isokinetic calf muscle strength ( P>0.05). There was a significant difference in plantar flexion of injured limbs after augmentation suture( P<0.05). Conclusion:Compared with direct suture, augmentation suture cannot improve patient satisfaction or reduce complication rate in repair of acute Achilles tendon ruptures.