Significance of echocardiography for early diagnosing the infantile Pompe disease

Abstract

Pompe hastalığı nadir görülen ve enzim tedavisi olan lizozamal depo hastalıklarından biridir. İnfantil Pompe hastalığında erken tedavi hastalığın prognozunu belirlemede çok önemlidir. Bu 2 vaka ile

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

“…5 The present patient was fed via orogastric feeding tube until DOL 57 because of difficulty in sucking and swallowing. 5 In patients with PD during the neonatal period, CK values range from 478 to 4,158 IU/L (2 to 14 times the normal value) 10,[12][13][14][15][16] , AST values range from 93 to 341 IU/L (2 to 8 times the normal value) 10,[12][13][14][15] , ALT values range from 21 to 160 IU/L (from normal to 4 times the normal value) 10,12,13,17 , and LDH values range from 888 to 1,848 IU/L (2 to 4 times the normal value) 10,12,14,17 . In our case, CK value was higher than those reported in the literature.…”

“…5 In patients with PD during the neonatal period, CK values range from 478 to 4,158 IU/L (2 to 14 times the normal value) 10,[12][13][14][15][16] , AST values range from 93 to 341 IU/L (2 to 8 times the normal value) , ALT values range from 21 to 160 IU/L (from normal to 4 times the normal value) 10,12,13,17 , and LDH values range from 888 to 1,848 IU/L (2 to 4 times the normal value). 10,12,14,17 In our case, CK value was higher than those reported in the literature. Although LDH value increased approximately 1.2 times the normal, this increase was lower than those reported in the literature.…”