WPW증후를 보이는 Pompe disease 1례

• 영문명: A CASE OF POMPE DISEASE ASSOCIATED WITH WPW SYNDROME
• 발행기관: 대한소아신경학회
• 저자명: 전우성(Woo Sung Chun) 박문성(Moon Sung Park) 오세욱(We Wook Oh) 고창준(Chang Joon Ko) 김태승(Tai Seung Kim)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제1권 제1호, 179~185쪽, 전체 7쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1993.09.20

영문 초록

Pompe disease is a rare autosomal recessive glycogen storage disease caused by the deficiency of acid maltase in muscle, lymphocytes, liver, heart and cultured fibroblasts. Three types of this disease : infantile, childhood and adult variants have been recognized according to the age of onset or death, rate of progression and the extent of tissue or organ involvement. We experienced a case of Pompe disease associated with WPW syndrome in 10 years old boy. He presented growing weakness of both lower extremities since 4 years of age and onset of palpitation on the day of admission. The electrocardiographic examination revealed Wolff-Parkinson-White syndrome, myopathy in the electomyographic study. Biceps muscle biopsy finding was glycogen storage disease, most likely Pompe disease.

키워드

Pompe disease Acid Maltase Deficiency WPW(Wolff-Parkinson-White)