Researchers from China reported the rare case of a patient with Pompe disease and appendicular torsion. The case underscores the importance of newborn screening of metabolic diseases such as Pompe disease for early diagnosis and treatment, especially in developing countries where Pompe disease is often misdiagnosed as other types of heart disease.

“Once the clinical symptoms worsen, most of them die within a short period”, wrote the authors of the study that appeared in the Journal of the College of Physicians and Surgeons Pakistan. “Treatment initiation before irreversible damage occurs appears useful to maximize the life span.”

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The case they presented is that of a girl, 1.5 years of age, who was admitted to the hospital with a fever and bloody stools. She was treated with penicillin for 5 days at another hospital, but this led to no improvements in her condition. After admission to the hospital, her condition worsened quickly, and she died after 17 hours.

The autopsy results showed that she had an enlarged heart with thickened left ventricular wall and ventricular septum. Her appendix was twisted 720° and had a hole. 

Microscopic examination also showed an enlarged left ventricular wall as well as enlarged papillary muscle and ventricular septal cardiomyocytes. Most of the cardiomyocytes had round vacuoles of varying sizes, as did some hepatocytes. There was vasodilation and congestion in the appendix, as well as necrosis in the mucosal layer. 

Based on these findings, the patient was diagnosed with Pompe disease with appendicular torsion.

Currently, the diagnosis of Pompe disease is based on muscle biopsy and the detection of acid alpha-glucosidase (GAA) enzyme activity in the sample. However, the results may be affected by the location of the muscle biopsy.


Zhang S, Luan X, Li H, Piao D, Jin Z. Pompe disease complicated with appendicular torsion: a rare concurrence. J Coll Physicians Surg Pak. Published online December 1, 2022. doi:10.29271/jcpsp.2022.Supp0.SS134