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, Liaoche...

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Autores principales:	Zhang B, Zhao Y, Liu J, Li L, Shan J, Zhao D, Yan C
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2016
Materias:	POMPE disease glycogen storage disease II acid maltase acid alpha -glucosidase cerebrovascular disorders Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/6f23fdc5667b404caf9574823b2aa705
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spelling	oai:doaj.org-article:6f23fdc5667b404caf9574823b2aa7052021-12-02T06:06:43ZLate-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report1178-2021https://doaj.org/article/6f23fdc5667b404caf9574823b2aa7052016-03-01T00:00:00Zhttps://www.dovepress.com/late-onset-pompe-disease-with-complicated-intracranial-aneurysm-a-chin-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Bin 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 disordersZhang BZhao YLiu JLi LShan JZhao DYan CDove Medical PressarticlePOMPE diseaseglycogen storage disease IIacid maltaseacid alpha -glucosidasecerebrovascular disordersNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol 2016, Iss Issue 1, Pp 713-717 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	POMPE disease glycogen storage disease II acid maltase acid alpha -glucosidase cerebrovascular disorders Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	POMPE disease glycogen storage disease II acid maltase acid alpha -glucosidase cerebrovascular disorders Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 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
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
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
title	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_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_sort	late-onset pompe disease with complicated intracranial aneurysm: a chinese case report
publisher	Dove Medical Press
publishDate	2016
url	https://doaj.org/article/6f23fdc5667b404caf9574823b2aa705
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Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report

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