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새로운 CSF1R유전자 돌연변이가 발견된 축삭 회전타원체 및 착색된 교세포를 동반한 성인형 백질뇌병증
전석휘,정은주,오승태,안정우,김상진,김종성,오성일 대한신경과학회 2019 대한신경과학회지 Vol.37 No.4
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a subtype of dominantly inherited leukoencephalopathies caused by novel CSF1R gene mutation predominantly affecting the cerebral white matter. High signal lesions on diffusion weighted image (DWI) are characteristic. Herein, we describe a patent with ALSP with a novel mutation. The patient had persistent DWI lesions, worsening white matter changes associated with rapidly progressive clinical symptoms.
안정우,전석휘,팽성화,오성일 대한근전도전기진단의학회 2019 대한근전도 전기진단의학회지 Vol.21 No.2
Spinal cord infarctions cause acute myelopathy with severe and long-term sequelae. Spinal cord infarction generally presents with abrupt onset of limb weakness, sensory disturbance, dysfunction of urination, or pain. Spinal cord infarction may be caused by surgery-related complications, aortic dissection, vasculitis, cardiac embolism, and surfing. We describe a case of a 67-year-old female who underwent a plank exercise the previous day, followed by a sensory abnormality of the lower extremity and gait disorder in the morning. The patient was diagnosed with spinal cord infarction with acute myelopathy through clinical features, diffusion-weighted magnetic resonance imaging, and neurophysiologic study. Spinal cord infarction is a rare disease and may be caused by plank exercise including Valsalva maneuver; therefore, clinicians should be cautious in this situation.