Familial rare cases of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) misdiagnosed as multiple sclerosis

Abstract

Background: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurodegenerative disease characterized by cerebral white matter abnormalities, which leads to progressive cognitive and motor dysfunction that usually presents in a middle-age. We present the pedigree, clinical, and imaging findings of familial cases with similar clinical features suggestive of progressive multiple sclerosis. Among our cases, two had died and the remaining one case is still alive, but with clinical symptoms getting worse, such as unable to verbally express themselves, unable to take care of themselves, worsening social relations and work abilities. Conclusion: Because the clinical features and neuroimaging findings of inflammatory and neurodegenerative disorders of the nervous system often overlap, the definitive diagnostic test for ALSP (Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia) is genetic testing to identify CSF1R gene mutations. Although genetic testing is currently unavailable, it is advisable in clinical practice to apply diagnostic criteria and pay close attention to family history and characteristic neuroimaging findings when evaluating patients with progressive motor, cognitive, and language decline in order to suspect this condition.