İnfantil Başlangıçlı Bir Tip 2 Glikojen Depo Hastalığı: Olgu Sunumu

Year 2014, Volume: 12 Issue: 2, 131 - 134, 01.09.2014

Serkan Bilge Koca Emine Polat Bahtışen Bayram Gizem Ürel Saliha Şenel İlyas Okur

https://doi.org/10.4274/jcp.87487

Abstract

Glikojen depo hastalığı tip 2 Pompe hastalığı hipotoni ve kas güçsüzlüğü ile seyreden otozomal resesif geçişli fatal bir glikojen depo hastalığıdır. Lizozomal asit alfa-glikozidaz asit maltaz enziminin eksikliğinin ilerleyici jeneralize miyopati, kardiyomiyopati ve solunum kasları güçsüzlüğü nedeniyle erken süt çocukluğu döneminde ölüme yol açtığı bilinmektedir. Hastalığın patogenezinde hücreler içinde yıkılamayan aşırı glikojen birikimi rol oynar. Bu yazıda 3,5 aylık pnömoni ve hipotoninin yol açtığı solunum yetmezliği ile başvuran, daha sonra Pompe hastalığı tanısı alan hasta sunuldu

Keywords

Pompe hastalığı, süt çocukluğu, hipotoni

Infantile Onset Glycogen Storage Disease Type 2: Case Report

Abstract

Glycogen storage disease type 2 Pompe’s disease is an autosomal recessive, fatal glycogen storage disease presenting with hypotonia and muscle weakness. It is known that deficiency of lysosomal acid alpha-glucosidase acid maltase leads to progressive generalised myopathy, cardiomyopathy and death in early infancy because of respiratory muscle weakness. Excessive undegradable intracellular glycogen deposition plays a role in the pathogenesis of the disease. Here we report a 3.5 month-old girl presenting with respiratory failure due to pneumonia and hypotonia, who was later diagnosed as Pompe disease

Keywords

Pompe disease, infancy, hypotonia

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