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Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report

Authors Zhang B, Zhao Y, Liu J, Li L, Shan J, Zhao D, Yan C

Received 21 August 2015

Accepted for publication 24 December 2015

Published 29 March 2016 Volume 2016:12 Pages 713—717

DOI https://doi.org/10.2147/NDT.S94892

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Prof. Dr. Roumen Kirov

Peer reviewer comments 4

Editor who approved publication: Professor Wai Kwong Tang


Bin Zhang,1,2,* Yuying Zhao,1,3,* Junling Liu,1,4 Ling Li,1 Jingli Shan,1 Dandan Zhao,1 Chuanzhu Yan1,3

1Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, 2Department of Neurology, Liaocheng People’s Hospital, Liaocheng, Shandong, 3Department of Neurology, Qilu Hospital of Shandong University, Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute, Shandong University, Jinan, Shandong, 4Department of Neurology, Affiliated Hospital of Weifang Medical University, Weifang, Shandong, People’s Republic of China

*These authors contributed equally to this work

Abstract: Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be divided into two forms: infantile and late-onset, which mainly affect cardiac, respiratory, and skeletal muscle systems. Late-onset patients mainly show symptoms of skeletal muscle involvement, but recent reports have found that the central nervous system was also affected in some patients. Herein, we report a case of a female, adolescent-onset Pompe patient, who was diagnosed with complicated intracranial aneurysm in adulthood.

Keywords: Pompe disease, glycogen storage disease II, acid maltase, acid alpha-glucosidase, cerebrovascular disorders

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