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

Xueping Zhu

doi:10.34297/ajbsr.2019.06.001019

Abstract

Alexander disease (AxD), the first known hereditary astrocyte disease, is a rare progressive leukoencephalopathy, which is an autosomal dominant genetic disease caused by mutation of GFAP gene encoding glial fibrillary acidic protein. According to the age of onset and clinical manifestations, it can be divided into two types: type I (onset age<4 years) mainly manifest as large head circumference, epileptic seizures, developmental retardation and paroxysmal aggravation, type II has late onset, manifested as autonomic dysfunction, eye movement abnormalities, palatal myoclonus and medulla oblongata symptoms [1].

Highlights

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
Alexander disease (AxD), the first known hereditary astrocyte disease, is a rare progressive leukoencephalopathy, which is an autosomal dominant genetic disease caused by mutation of GFAP gene encoding glial fibrillary acidic protein
AxD, known as Fibrinnoid leukodystrophy, is a rare nonfamilial lethal leukoencephalopathy, which may be autosomal dominant genetic disease, mostly sporadic cases [3]. This disease is associated with multiple GFAP gene mutations, which is a leukodystrophy caused by astrocyte dysfunction caused by GFAP gene mutations

Summary

Introduction

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. Before the discovery of the pathogenic gene of AxD, the diagnosis was mainly based on the pathological biopsy of brain tissue [2]. The clinical manifestations, genotype characteristics and follow-up of children with type I AxD diagnosed by GFAP gene analysis and clinical characteristics in the Children’s Hospital of Soochow University in 2018 were retrospectively analyzed. The patient belonged to cesarean section, with 36+ 6 weeks of gestational age, no history of hypoxia and asphyxia after birth, birth weight of 2500g, gestational diabetes mellitus during pregnancy, extremities convulsions after birth, and more and more frequent convulsions in the past 18 days.

Results

Discussion

Conclusion