Objective To explore the clinical and the genetic features of infantile neuroaxonal dystrophy (INAD).Methods The clinical and laboratory data,neuroimaging examination and genetic testing results of one child with INAD were retrospectively analyzed.Results A 2 years old boy presented motor and verbal dexterity regression and hypotonia.Laboratory findings revealed decreased total iron-binding capacity in serum with increased glutamic oxaloacetic transaminase (AST) and lactic dehydrogenase (LDH).Myoelectrography showed neurogenic impairments of the arms and legs,and the color doppler ultrasound of the heart,video-EEG and brain MRI results were normal.A homozygous mutation of c.1077G＞A was found in PLA2G6 gene of the infant.The infant's parents were heterozygous mutation carriers at this locus.Conclusions PLA2G6 gene mutations cause INAD.%目的 探讨婴儿神经轴索营养不良的临床特征和PLA2G6基因突变特点.方法 回顾分析1例婴儿神经轴索营养不良患儿的临床资料.结果 患儿,男,2岁,主要临床表现为行走、语言倒退,肌张力减低.血清总铁结合力稍低,天冬氨酸氨基转移酶和乳酸脱氢酶升高;肌电图检查示上下肢神经源性损害;彩色多普勒超声心动图、视频脑电图、颅脑磁共振均未见明显异常.基因检查结果提示患儿PLA2G6纯合突变c.1077 G＞A,其父母该位点均为杂合突变.结论 PLA2G6基因突变导致婴儿神经轴索营养不良.
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