Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids Mistaken for Stroke: A Case Report

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder that caused by colony stimulating factor 1 receptor gene mutation degenerating the cerebral white matter. It characterized various symptoms such as progressive cognitive decline, personality changes, and motor disorders. Since these clinical features are not consistent, HDLS often underdiagnosed or misdiagnosed. This case report presents patient priorly diagnosed infarction features, but eventually genetic test.