Researchers reported the case of an infant with Pompe disease who died young despite being on enzyme replacement therapy, as published in Molecular Genetics & Genomic Medicine

The case study details a full-term patient born via eutocic delivery. He was hospitalized because he required advanced cardiopulmonary resuscitation and face mask lung inflation with 21% oxygen and pressure of 30 cm of water. 

Upon discharge, the patient was found to be hypotonic and experiencing feeding difficulties. At 6 weeks, the patient developed sepsis and was hospitalized. In addition, he demonstrated generalized muscle weakness, macroglossia, feeding difficulties, neurological deterioration, and cardiomegaly.

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At 3 months, his clinical condition worsened. His physicians found further neurological deterioration requiring mechanical ventilation and diuretics, and his thoracic X-ray showed severe cardiomegaly. Laboratory tests demonstrated increased lactate dehydrogenase (951 U/L) and creatine-phosphokinase (435 U/L). An echocardiogram revealed concentric hypertrophic cardiomyopathy with left diastolic dysfunction.

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At this point, Pompe disease was still not suspected. At 5 months, the patient still did not respond well to treatment and was admitted to the Department of Lysosomal Diseases in Mexico City. A dried spot test revealed low levels of alpha-glucosidase activity (0/21 nmoL/ml blood/hour), and further investigations confirmed a diagnosis of Pompe disease. 

The patient was started on enzyme replacement therapy. He was on a weekly alpha-glucosidase regime of 20 mg/kg. Initially, the patient improved clinically after being started on treatment, but at 4 weeks of treatment, he developed a cardiorespiratory arrest and died at 9 months of age.

One of the possible factors that led to the early demise of the patient was the delay in starting Pompe disease treatment as the patient was initially treated at a rural hospital with limited resources and a lack of physician experience with this kind of patient.

“Our case highlights the need for more knowledge of orphan diseases, where an early start of treatment implies a change in the evolution and prognosis of the disease,” the authors wrote.


Cerón-Rodríguez M, Castillo-García D, Acosta-Rodríguez-Bueno CP, et al. Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: a case studyMol Genet Genomic Med. 2022;e1957. doi:10.1002/mgg3.1957