Neuropediatrics 2010; 41(4): 193-195
DOI: 10.1055/s-0030-1267961
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

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

D. Demirkol1 , M. Caliskan2 , G. Gökcay3 , D. Yanni4 , A. Citak1 , P. S. Oflazer5 , M. Karabocuoglu6
  • 1Department of Pediatric Intensive Care, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
  • 2Department of Child Neurology, Institute of Child Health, Istanbul University, Istanbul, Turkey
  • 3Department of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
  • 4Children's Hospital, Istanbul Faculty of Medicine Istanbul University, Istanbul, Turkey
  • 5Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
  • 6Department of Pediatric Intensive Care, Institute of Child Health, Istanbul University, Istanbul, Turkey
Further Information

Publication History

received 20.10.2009

accepted 05.10.2010

Publication Date:
17 November 2010 (online)

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.

References

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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

Demet Demirkol

Department of Pediatric

Intensive Care

Istanbul Faculty of Medicine

Istanbul University

Millet Cad Findikzade

34390 Istanbul

Turkey

Phone: +90/212/414 7028

Fax: +90/212/352 7009

Email: d-demirkol@hotmail.com

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