WPW증후를 보이는 Pompe disease 1례

A CASE OF POMPE DISEASE ASSOCIATED WITH WPW SYNDROME

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.