A Case Report of Adult-Onset Alexander Disease with a Tumor-Like Lesion in the Lateral Ventricle

Adult-onset Alexander disease (AOAD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP). Individuals with this disorder often present with a typical neuroradiologic pattern, including frontal white matter abnormality with contr...

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Bibliographic Details
Main Authors: Tongjia Cai, Sisi Jing, Ying Li, Jianjun Wu
Format: Article
Language:English
Published: Karger Publishers 2021-06-01
Series:Case Reports in Neurology
Subjects:
Online Access:https://www.karger.com/Article/FullText/516256
Description
Summary:Adult-onset Alexander disease (AOAD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP). Individuals with this disorder often present with a typical neuroradiologic pattern, including frontal white matter abnormality with contrast enhancement, atrophy and signal intensity changes of the medulla oblongata and upper cervical cord on MRI. Focal lesions are rarely seen in AOAD, which causes concern for primary malignancies. This study aimed to present the case of a 37-year-old male patient initially diagnosed with an astrocytoma in the lateral ventricle that was later identified as GFAP mutation-confirmed AOAD. GFAP sequencing revealed a heterogeneous missense mutation point c.236G>A. Hence, AOAD should be considered in patients with tumor-like lesion brain lesion in association with atrophy of medulla oblongata and upper cervical spinal cord, and frontal white matter abnormality with contrast enhancement.
ISSN:1662-680X