| 제 3형 Gaucher씨병으로 인한 진행성 근간대성 간질 2예 |
| 허경, 예종수, 김상진, 김성은, 김응규, 조효근, 김찬환*, 김현주** |
| 인제대학교 의과대학 신경과학교실, 병리학교실*
아주대학교 의과대학 의학유전학교실 |
| Two Cases of Progressive Myoclonus Epilepsy due to Gaucher's Disease, Type 3 |
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Kyoung Heo, M.D., Jong-Su Ye, M.D., Sang-Jin Kim, M.D. Sung-Eun Kim, M.D.,
Oeung-Kyu Kim, M.D., Hyo-Kun Cho, M.D., Chan-Hwan Kim, M.D.*, Hyon Ju Kim, M.D.** |
| Department of Neurology,
Pocheon CHA University College of Medicine,
Pundang CHA General Hospital,
351 Yatap-dong, Pundang-gu, Sungnam Kyonggi-do 463-712, Korea |
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| Abstract |
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Gaucher’s disease is an autosomal recessive disorder caused by a deficiency of ß-glucosidase (glucocerebrosidase)
which results in an accumulation of glucocerebroside in various organs and tissues. Type 3 (juvenile or subacute neuro-pathic)
Gaucher’s disease, presented here as progressive myoclonus epilepsy, occurs more rarely than type 1 (adult or
nonneuropathic) or type 2 (infantile or neuropathic) Gaucher’s disease. Two patients (brother and sister) with type 3
Gaucher’s disease had or was expected to develop typical features of progressive myoclonus epilepsy : myoclonus,
seizures, dementia, and cerebellar dysfunction. One of them showed Gaucher cells in a liver biopsy specimen and
decreased ß-glucosidase activity (14% of normal) in the cultured skin fibroblasts, which confirmed the clinical diagno-sis
of type 3 Gaucher’s disease. J Kor Neurol Ass 17(3):420 ~ 426, 1999 Key Words : Gaucher’s disease, progressive myoclonus epilepsy, ß-glucosidase |
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