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 Yan<sup>1,3

1</sup>Laboratory 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