One Case Report and Literature Review of Alexander’s Disease Caused by a Mutation in the GFAP Gene | Biomedgrid LLC

Background: Based on a case of tic as the primary symptom of Alexander disease I type, enhancing understanding clinical manifestations and characteristics of the genotypes and improving the level of diagnosis and treatment of Alexander disease I type. Methods: Combined one with gene diagnosed type I Alexander disease child in October 2018 in admission to neonatal ward of Children's Hospital of Soochow University, the clinical diagnosis and treatment process of patient and related literature reports were analyzed retrospectively, follow-up was conducted in February 2019, the etiology, clinical manifestations, genotypic characteristics, diagnosis and treatment were discussed. Results: One 20-day-old boy, the main symptom was convulsion, improve related laboratory inspection, finally, GFAP gene detection was passed, (ngqx1801877701-1) chr17: 42989062 showed heterozygous mutation of c.884A>G (p.d295g), It has not been reported at home or abroad, and the child can be diagnosed with Alexander disease I type, moreover, the father of the patient had heterozygous mutation (ngqx1801877802-1) chr17: 42989062 with c.844A>G (p.d295g), after the treatment of symptomatic support, the patient's condition improved. Conclusion: Alexander disease I type early disease, early diagnosis and under the support in symptomatic treatment, attaches great importance to the late follow-up and rehabilitation training is the key to improve the prognosis