Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report.
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.
Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong; Department of Neurology, Liaocheng People's Hospital, Liaocheng, Shandong.
Bin
B
Zhang
Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong; Department 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.
Yuying
Y
Zhao
Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong; Department of Neurology, Affiliated Hospital of Weifang Medical University, Weifang, Shandong, People's Republic of China.
Junling
J
Liu
Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong.
Ling
L
Li
Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong.
Jingli
J
Shan
Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong.
Dandan
D
Zhao
Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong; Department 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.
Chuanzhu
C
Yan
Pompe disease; acid alpha-glucosidase; acid maltase; cerebrovascular disorders; glycogen storage disease II