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김정현,윤준필,이준,이세진,박미영,하정상 대한신경과학회 2006 대한신경과학회지 Vol.24 No.5
A 59 year-old woman who had suffered daily headaches was diagnosed with leptomeningeal metastasis. Leptomeningeal metastasis is uncommon but devastating form of metastatic spread. Cerebral venous thrombosis is a disease sometimes associated with systemic cancer. Rarely, cerebral sinus occlusion accompanies leptomeningeal cancer. We report a patient who had cerebral sinus thrombosis and leptomeningeal metastasis.
Dentatorubropallidoluysian Atrophy 일가족
정지윤,박미영,이준,윤준필,박현정 영남대학교 의과대학 2006 Yeungnam University Journal of Medicine Vol.23 No.1
Dentatorubropallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder usually inherited in an autosomal dominant pattern. DRPLA has been shown to be associated with expansion of an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat in a gene on chromosome 12p. We evaluated a family with DRPLA that affected three members; A 35-year-old female presented with seven year history of gait ataxia, dysarthria and mild cognitive impairment. The MRI of the brain revealed diffuse cerebellar atrophy with an incidental lipoma in the midbrain. Her 30-year-old brother presented with progressive cerebellar ataxia that developed at the age of 20. Her grandmother and mother were reported to have developed ataxia during the late period of their life, and died at the age of 60 and 55, respectively. The demonstration of an expanded CAG repeat in the gene for DRPLA was used to confirm the diagnosis.