뇌졸중으로 오인된 축삭구형체를 동반한 유전미만백질뇌병증 환자 증례

Abstract

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