Lafora씨 병 1례
A Case of Lafora
한진규, 고성범, 박민규, 이대희,
소속 상세정보
한진규 ( Han Jin-Kyu )
고려대학교 의과대학 신경과학교실
고성범 ( Koh Seung-Beom )
고려대학교 의과대학 신경과학교실
박민규 ( Park Min-Kyu )
고려대학교 의과대학 신경과학교실
이대희 ( Lee Dae-Hie )
고려대학교 의과대학 신경과학교실
KMID : 0877219970010010140
Abstract
Lafor’s disease is a hereditary neurologic disease that is transmitted as an autosomal recessive trait and affects both sexes equally. Clinically, the disease is characterized by the triad of epilepsy, myoclonus and progressive dementia usually loading to death within 2-10 years after the onset of symptom. Pathologically typical inclusion bodies are evident in the brain, liver, skeletal, cardiac muscle and skin. Since the age of 16 years, a 20-year-old man had myoclonic epilepsy, abnormal cerebellar signs and spontaneous myoclonus. EEG showed diffuse slowing of background activity and generalized epileptiform discharges consisting of single spikes, polyspikes. sharp waves and spike-wave complexes in varying combinations. A photoconvulsive response occurred at flash frequency of 12 Hz. BAEPs were normal. but a giant amplitude SSEP in posterior tibial nerve was noted. Topical Lafora bodies also was found in skin biopsy. We report a case of a 20-year-old man with Lafora’s disease who showed generalized seizure, myoclonic epilepsy. progressive dementia and Lafora’s bodies from skin biopsy.
키워드
라포라씨병; 라포라씨 소체; 근간대성 경련
Lafora’s disease; Lafora body; Myoclonus; Dementia
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