Volume 3, Issue 8 (Winter 2017)                   Caspian.J.Neurol.Sci 2017, 3(8): 54-59 | Back to browse issues page


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Rezaeitalab F, Boostani R, Ghabeli-Juibary A, Mali S. Headache: A Presentation of Pompe Disease; A Case Report. Caspian.J.Neurol.Sci. 2017; 3 (8) :54-59
URL: http://cjns.gums.ac.ir/article-1-155-en.html
1- Assistant Professor, Department of Neurology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
2- Associate Professor, Department of Neurology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
3- Neurologist, Student Research Committee, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
4- Resident of Neurology, Department of Neurology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; malisara46@yahoo.com
Abstract:   (725 Views)

Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme. As a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. In Pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure as a main clinical presentation in the early stages of the disease. Even sleep may be affected by nocturnal respiratory disturbances. Specific treatment with enzyme replacement (human recombinant GAA) is available.

Here we present a case of progressive muscular weakness which had been misdiagnosed with limb girdle muscular dystrophy. A history of severe morning headaches led authors to think about sleep apnea, which was confirmed by polysomnography and therefore provided a clue for appropriate diagnosis of Pompe disease.

As a conclusion, Morning headaches and sleep insufficiency in any stage of a progressive muscular disorder can lead us to think about respiratory muscle involvement, which is more prominent in Pompe disease.

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Type of Study: case report | Subject: Special
Received: 2017/04/13 | Accepted: 2017/04/13 | Published: 2017/04/13

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