Abbreviations AxD Alexander disease DNA Deoxyribonucleic acid DWI Diffusion Weighted Imaging FLAIR Fluid attenuated inversion recovery GFAP Glial fibrillary acidic protein HIV Human immunodeficiency virus MRA Magnetic resonance angiography MRI Magnetic resonance imaging T1WI T1-weighted imaging T2WI T2-weighted imaging Acknowledgements The authors would like to thank the patient’s family and the Beijing JinZhun Gene Technology Co., Ltd. The work couldn’t be done without their participation and help. Funding We receive no funding support. Availability of data and materials Not applicable. For protecting patient privacy. Authors’ contributions Study design and drafting of manuscript: YL, XZ. Clinical study perform: YL, XZ, HZ. Genetic analysis: HZ, HW. Acquisition and interpretation of data: YL, XG, AZ, LZ, XL. Critical revision of the manuscript: XH, HW, YL. All authors have read and approved the final manuscript. Competing interest The authors declare that they have no competing interests. Consent for publication Written informed consents were obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal. Ethics approval and consent to participate This case report has been approved by the Beijing Tiantan Hospital, Capital Medical University’s Research Ethics Board. Written informed consent was obtained from the patient and her families for genetic analysis and publication of this case report.