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.

hypotonia - muscle weakness - neuromuscular disease - atypical Pompe's disease

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Notice:

This article was changed according to the following erratum on: 09.12.2010

Some of the authors' names of this article were incorrect. The names of the authors should be as follows: D. Demirkol, M. Caliskan, G. Gökcay, D. Yanni, A. Citak, P. S. Oflazer, M. Karabocuoglu

Correspondence