Zhang Wen-Chao, Mao Ying-Ying, Chen Qian
Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Apr 15;25(4):420-424. doi: 10.7499/j.issn.1008-8830.2211052.
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.
庞贝病,也称为糖原贮积病Ⅱ型,是一种罕见的常染色体隐性疾病。随着酶替代疗法的应用,越来越多的庞贝病患者能够存活至成年期,与神经系统相关的临床表现逐渐显现。神经系统受累严重影响庞贝病患者的生活质量,系统了解庞贝病神经系统损伤的临床表现、影像学特征及病理变化,对于庞贝病的早期识别和干预具有重要意义。本文综述了庞贝病神经损伤的研究进展。