Researchers reported a rare case of a 4-year-old girl with co-occurrence of Pompe disease and congenital myasthenia syndrome type 5. The case report, published in Cureus, described good results from whole-exome sequencing for an early diagnosis and subsequent alglucosidase alfa enzyme replacement therapy (ERT), which is currently the only approved treatment for Pompe disease.

“Early detection of Pompe disease by whole-exome sequencing can potentially slow disease progression and enhance patients’ quality of life; consequently, newborn screening procedures are prospective modalities for improving Pompe disease outcomes,” the authors wrote.

“Treatment with [ERT] can impressively change the course of the disease, thus improving the quality of patients’ lives and decreasing the incidence of the development of critical complications.”

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The patient was referred for management of respiratory distress and was placed on mechanical ventilation. She required a tracheostomy and an orogastric tube for feeding, as well as intravenous targocid for methicillin-resistant Staphylococcus aureus. She was placed on alglucosidase alfa ERT in addition to long-term physical therapy, which ultimately resulted in significant respiratory improvement as well as improvements in physical movement.

The authors note that early detection of Pompe disease by employing whole-exome sequencing can lead to the successful administration of alglucosidase alfa ERT, which restores lysosomal GAA activity and stabilizes muscle function, thereby dramatically improving outcomes for patients and reducing complications.

They recommend more specific studies of patients of any age with myodystrophy and associated syndromes, with the aim of identifying late-onset Pompe disease and initiating appropriate ERT treatment as early as possible.


Al-Sharif F, Alamer M F, Taher H O, et al. Co-occurrence of glycogen storage disease type 2 and congenital myasthenic syndrome type 5 in a pediatric patient: a case report. Cureus. Published online June 26, 2022. doi:10.7759/cureus.26345