중심핵(CENTRAL CORE)병 3례

• 영문명: THREE CASES OF CENTRAL CORE DISEASE
• 발행기관: 대한소아신경학회
• 저자명: 고준태(June Tae Ko) 김동욱(Dong Wook Kim) 김기중(Ki Joong Kim) 고태성(Tae Sung Ko) 황용승(Yong Seung Hwang) 이춘기(Choon Ki Lee)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제1권 제1호, 186~192쪽, 전체 7쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1993.09.20

영문 초록

Central core disease is one of benign childhood myopathies, charactorized by its histological feature. Mitochondrial oxidative enzyme activity is absent in this cental core area. Patients shows motor weakness in early childhood and motor developemental delay. The muscle involvement is generalised and symmetrical in the trunk and limbs. The deep tendon reflexes are normal of deminished. Skeletal deformities are not nucommon. Creatine kinase serum levels are normal and the electromyographic abnormalities are nonspecific. The disease course in benign and the electromyographic abnormalities are nonspecific. We experienced 3cases of central core disease. The case 1, a 5 year girl, is the first report in our country. All of the cases showed motor weakness and motor developemental delay. In the case 1 and 3, skeletal deformities were detected such as hip joint contracture, kyphoscoliosis. The were treated with physial therapy and had operative correction. We report 3 cases of Central core disease with brief revew of the litratures.

키워드

Central core disease Benign myopathy.