Pitoz ve Disfaji ile Prezente Olan Geç Başlangıçlı Pompe Hastalığı

Abstract

Pompe disease PD is an autosomal recessive glycogen storage disease of childhood which is caused by deficiency of lysosomal enzyme acid-α-glucosidase. PD is classified into two; infantile onset and late onset. Infantile onset disease, typically present during the first few weeks of life with hypotonia, hepatomegaly and hypertrophic cardiomyopathy and usually infantile death within the first year of life. Late-onset Pompe disease usually presents with proximal muscle weakness and respiratory insufficiency in childhood or late adulthood. In this case report we describe a two-year-old boy diagnosed with late-onset PD with enzyme level and genetic analysis who did not have any major signs other than pitosis and disarthria which could be easily misdiagnosed