Infantile onset glycogen storage disease type 2: Case report İnfantil başlangıçlı bir tip 2 glikojen depo hastalığı: Olgu sunumu


Koca S. B. , Polat E., Bayram B., Ürel G., Şenel S., OKUR İ.

Guncel Pediatri, vol.12, no.2, pp.131-134, 2014 (Peer-Reviewed Journal) identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 2
  • Publication Date: 2014
  • Doi Number: 10.4274/jcp.87487
  • Journal Name: Guncel Pediatri
  • Journal Indexes: Science Citation Index Expanded, Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.131-134
  • Keywords: Hypotonia, Infancy, Pompe disease

Abstract

© The Journal of Current Pediatrics, published by Galenos Publishing.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.