Dilek Bingöl AYDIN, Dilcan KOTAN, Öner ÖZDEMİR

Pitoz ve Disfaji ile Prezente Olan Geç Başlangıçlı Pompe Hastalığı

Pompe hastalığı PH , otozomal resesif kalıtılan çoğunlukla çocukluk çağında görülen lizozomal α-asid-glukozidaz eksikliği ile seyreden bir glikojen depo hastalığıdır. Hastalığın erken ve geç başlangıçlı olmak üzere iki tipi vardır. İnfantil tip, tipik olarak ilk birkaç hafta içinde hipotonisite, hepatomegali, kardiyomiyopati ile seyreder ve genellikle ilk bir yaşta kaybedilir. Geç başlangıçlı tip PH genellikle çocukluk veya erişkin dönemde proksimal kas güçsüzlüğü ve solunum sıkıntısı ile ortaya çıkar. Makalemizde tanısı kolaylıkla gözden kaçabilecek olan pitoz ve disfaji dışında majör bulgusu olmayan, enzim düzeyi ve genetik analiz ile geç başlangıçlı PH tanısı koyulan iki yaşında erkek hasta sunulmaktadır

Late-onset POMPE Disease Presented with Pitosis and Dysphagia in Early Chil

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. 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,

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