A homozygous mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy: a case report

VernacularTitle:PLA2G6基因纯合突变致婴儿神经轴索营养不良1例报告
Author: Hongzhu LU ¹ ; Rong CHEN ; Yanhui CHEN
Author Information

1. 福建医科大学附属协和医院儿科福建福州 350001
Keywords: infantile neuroaxonal dystrophy; PLA2G6 gene; infant
From: Journal of Clinical Pediatrics 2017;35(11):820-822,825
CountryChina
Language:Chinese
Abstract: 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.