Infantile onset glycogen storage disease type 2: Case report İnfantil başlangıçlı bir tip 2 glikojen depo hastalığı: Olgu sunumu
Guncel Pediatri, cilt.12, sa.2, ss.131-134, 2014 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 12 Sayı: 2
- Basım Tarihi: 2014
- Doi Numarası: 10.4274/jcp.87487
- Dergi Adı: Guncel Pediatri
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.131-134
- Anahtar Kelimeler: Hypotonia, Infancy, Pompe disease
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Evet
Özet
© 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.