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 electromyographic study. Biceps muscle biopsy finding was glvcogen storage disease, most likely Pompe disease.
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