Zhang Ying, Zhang Cheng, Shu Jian-Bo, Zhang Fang
Department of Neonatal, Tianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin 300134, China.
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin 300134, China.
World J Clin Cases. 2022 Apr 6;10(10):3278-3283. doi: 10.12998/wjcc.v10.i10.3278.
Pompe disease has a broad disease spectrum, including infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD) forms. It is a type of glycogen storage disorder belonging to autosomal recessive genetic disease, for an estimated incidence of 1/40000 among the neonatal population. In severe cases, the natural course is characterized by death due to cardiopulmonary failure in the first year after birth. However, the clinical outcomes have improved since the emergence of enzyme replacement therapy (ERT) was widely used.
The reported female case in China was an atypical IOPD, which demonstrates an unusual presentation of glycogen accumulation syndrome type II without obvious skeletal muscle involvement, and reviewed physical examination, biochemical examinations, chest radiograph, and acid α-glucosidase (GAA) mutation analysis. After 4-mo specific ERT, the case received 12-mo follow-up. Moreover, the patient has obtained a very good prognosis under ERT.
For the atypical IOPD patients, early diagnosis and treatment may contribute to good prognosis.
庞贝病具有广泛的疾病谱，包括婴儿型庞贝病（IOPD）和晚发型庞贝病（LOPD）。它是一种糖原贮积病，属于常染色体隐性遗传病，新生儿群体中的估计发病率为1/40000。在严重病例中，自然病程的特征是出生后第一年内因心肺衰竭死亡。然而，自从酶替代疗法（ERT）广泛应用以来，临床结局有所改善。
中国报道的该女性病例为非典型IOPD，表现为II型糖原累积综合征的不寻常表现，无明显骨骼肌受累，并回顾了体格检查、生化检查、胸部X线片及酸性α-葡萄糖苷酶（GAA）突变分析。经过4个月的特异性ERT治疗后，该病例接受了12个月的随访。此外，该患者在ERT治疗下获得了非常好的预后。
对于非典型IOPD患者，早期诊断和治疗可能有助于获得良好预后。
