Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 2018 , Vol 9, Issue 3
Late-Onset Pompe Disease Presented With Pitosis and Dysphagia In Early Childhood
Dilek Bingöl Aydın2,Dilcan Kotan1,Öner Özdemir2
1Sakarya Üniversitesi Tıp Fakültesi, Nöroloji, Sakarya, Türkiye
2Sakarya Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları, Sakarya, Türkiye
DOI : 10.31067/0.2018.40 Pompe disease (PD) is an autosomal recessive glycogen storage disease of childhood which is caused by deficiency of lysosomal enzyme acid-?-glucosidase. PD is classified into two; infantile onset and late onset. İnfantile 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. Keywords : Dysphagia, early childhood, late-onset pompe disease, pitosis