Saliha ŞENEL, İlyas OKUR, Serkan Bilge KOCA, Bahtışen BAYRAM, Gizem ÜREL, Emine POLAT

İnfantil Başlangıçlı Bir Tip 2 Glikojen Depo Hastalığı: Olgu Sunumu

Glikojen depo hastalığı tip 2 (Pompe hastalığı) hipotoni ve kas güçsüzlüğü ileseyreden otozomal resesif geçişli fatal bir glikojen depo hastalığıdır. Lizozomalasit alfa-glikozidaz (asit maltaz) enziminin eksikliğinin ilerleyici jeneralizemiyopati, kardiyomiyopati ve solunum kasları güçsüzlüğü nedeniyle erken sütçocukluğu döneminde ölüme yol açtığı bilinmektedir. Hastalığın patogenezindehücreler içinde yıkılamayan aşırı glikojen birikimi rol oynar. Bu yazıda 3,5 aylıkpnömoni ve hipotoninin yol açtığı solunum yetmezliği ile başvuran, daha sonraPompe hastalığı tanısı alan hasta sunuldu. (Gün cel Pe di at ri 2014;2:131-4)

Infantile Onset Glycogen Storage Disease Type 2: Case Report

Glycogen storage disease type 2 (Pompe s disease) is an autosomal recessive, fatalglycogen storage disease presenting with hypotonia and muscle weakness. It isknown that deficiency of lysosomal acid alpha-glucosidase (acid maltase) leadsto progressive generalised myopathy, cardiomyopathy and death in early infancybecause of respiratory muscle weakness. Excessive undegradable intracellularglycogen deposition plays a role in the pathogenesis of the disease. Here we reporta 3.5 month-old girl presenting with respiratory failure due to pneumonia andhypotonia, who was later diagnosed as Pompe disease. (The Jo ur nal of Cur rentPe di at rics 2014;2:131-4)

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