Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

Abstract

Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).1 Clinical presentation of AD includes infantile AD, characterized by psychomotor retardation, seizures, pyramidal signs, and megalencephaly; juvenile AD, characterized by bulbar/pseudobulbar signs, hyperreflexia, lower limb spasticity, ataxia, loss of intellectual function, and macrocephaly; and adult-onset AD, characterized by progressive bulbar symptoms, ataxia, palatal myoclonus, bladder dysfunction, and spastic paraparesis.1 The authors thank the patient and her family for participating in this research. They thank Alyssa Tran, Deanna Erwin, and Alex Espana in the Molecular and Human Genetics Department, Baylor College of Medicine for administrative assistance.