A severe form of non-classic Pompe's disease with normal creatinine kinase level.

ABSTRACT

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.