Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report
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, Lia...
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Dove Medical Press
2016-03-01
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| Series: | Neuropsychiatric Disease and Treatment |
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| Online Access: | https://www.dovepress.com/late-onset-pompe-disease-with-complicated-intracranial-aneurysm-a-chin-peer-reviewed-fulltext-article-NDT |
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| author | Zhang B Zhao Y Liu J Li L Shan J Zhao D Yan C |
| author_facet | Zhang B Zhao Y Liu J Li L Shan J Zhao D Yan C |
| author_sort | Zhang B |
| collection | DOAJ |
| description | 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 |
| format | Article |
| id | doaj-art-2c0dad20fefe4fa7aca1b45d22d9281e |
| institution | OA Journals |
| issn | 1178-2021 |
| language | English |
| publishDate | 2016-03-01 |
| publisher | Dove Medical Press |
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| series | Neuropsychiatric Disease and Treatment |
| spelling | doaj-art-2c0dad20fefe4fa7aca1b45d22d9281e2025-08-20T02:24:17ZengDove Medical PressNeuropsychiatric Disease and Treatment1178-20212016-03-01Volume 12Issue 171371726172Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case reportZhang BZhao YLiu JLi LShan JZhao DYan CBin 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 disordershttps://www.dovepress.com/late-onset-pompe-disease-with-complicated-intracranial-aneurysm-a-chin-peer-reviewed-fulltext-article-NDTPOMPE diseaseglycogen storage disease IIacid maltaseacid alpha -glucosidasecerebrovascular disorders |
| spellingShingle | Zhang B Zhao Y Liu J Li L Shan J Zhao D Yan C Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report Neuropsychiatric Disease and Treatment POMPE disease glycogen storage disease II acid maltase acid alpha -glucosidase cerebrovascular disorders |
| title | Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report |
| title_full | Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report |
| title_fullStr | Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report |
| title_full_unstemmed | Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report |
| title_short | Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report |
| title_sort | late onset pompe disease with complicated intracranial aneurysm a chinese case report |
| topic | POMPE disease glycogen storage disease II acid maltase acid alpha -glucosidase cerebrovascular disorders |
| url | https://www.dovepress.com/late-onset-pompe-disease-with-complicated-intracranial-aneurysm-a-chin-peer-reviewed-fulltext-article-NDT |
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