庞贝病神经系统损伤的研究进展

doi:10.7499/j.issn.1008-8830.2211052

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Abstract Pompe disease, also known as glycogen storage disease type Ⅱ, is a rare autosomal recessive disease. With the application of enzyme replacement therapy, more and more patients with Pompe disease can survive to adulthood, and nervous system-related clinical manifestations gradually emerge. Nervous system involvement seriously affects the quality of life of patients with Pompe disease, and a systematic understanding of the clinical manifestations, imaging features and pathological changes of nervous system injury in Pompe disease is of great significance for the early identification and intervention of Pompe disease. This article reviews the research progress of neurological damage in Pompe disease. Citation:Chinese Journal of Contemporary Pediatrics, 2023, 25(4): 420-424

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Key words： Pompe disease Glycogen storage disease type Ⅱ GAA gene Nervous system Clinical manifestation

Received: 10 November 2022

Cite this article:

. Research progress of nervous system damage in Pompe disease[J]. CJCP, 2023, 25(4): 420-424.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2211052 OR http://www.zgddek.com/EN/Y2023/V25/I4/420

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