A Severe Form of Non-Classic Pompe's Disease with Normal Creatinine Kinase Level

DEMİRKOL D., ÇALIŞKAN M. M., GÖKÇAY G. F., Yanni D., ÇITAK A., Oflazer P. S., ...Daha Fazla

NEUROPEDIATRICS, cilt.41, sa.4, ss.193-195, 2010 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 41 Sayı: 4
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1055/s-0030-1267961
  • Dergi Adı: NEUROPEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.193-195
  • Anahtar Kelimeler: hypotonia, muscle weakness, neuromuscular disease, atypical Pompe's disease, ACID MALTASE DEFICIENCY, NATURAL COURSE, IDENTIFICATION, DIAGNOSIS
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

A 24-month-old boy was referred to our pediatric intensive care unit because of difficulty in weaning from artificial ventilation. He had 2 bronchopneumonia attacks in 2 months; the diagnosis of Pompe's disease was confirmed by low glucosidase activity in lymphocytes and cultured fibroblasts without abnormality in the serum creatine kinase level. Our patient's creatine kinase levels were permanently normal. To the best of our knowledge, our Pompe's case is the first in the literature who has normal creatinine kinase levels despite earlier onset and rapidly progressive disease.