Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: Clinical and imaging characteristics.

摘要: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare white matter degenerative disease characterized by both glial injury due to defect in the CSF1R gene. In this report, we describe ALSP previously healthy 40-year-old woman presenting insidiously progressive confusion, memory loss, loss of social inhibitions. Characteristic magnetic resonance imaging findings for elucidated diagnosis, including chronic foci diffusion restriction non-vascular distribution, lack temporal/infratentorial involvement, cortical sparing, enhancement. genetic testing further confirmed diagnosis patient underwent supportive medical management symptom control. can pose unique diagnostic challenge given its particular adult-onset presentation, but early recognition key poor prognosis potential family testing.