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2025, Number 6

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Rev Mex Pediatr 2025; 92 (6)

Infantile-onset Pompe disease treated with alglucosidase alfa and immunomodulation

Sesman-Bernal BC, Jiménez-Martínez CG, Sánchez-Sánchez LM, Arellano-Valdez CA, Macías-Gutiérrez B, López-Jiménez JR, Martínez-Montoya V

Language: Spanish
References: 20
Page: 237-240
PDF size: 322.82 Kb.


ABSTRACT

Introduction: infantile-onset Pompe disease (IPD) is the most severe form of the disease. Enzyme replacement therapy (ERT) with alpha-alglucosidase can lead to the development of antibodies against the enzyme, neutralizing its effect. Therefore, protocols exist to induce immunological tolerance (ITI). Objective: to present the case of a child with infantile-onset IPD managed with immunomodulation and alpha-alglucosidase. Case report: a 4-month-old male was admitted with severe pneumonia, hypotonia, and cardiomyopathy. After two months of hospitalization, IPD was confirmed by low acid alpha-glucosidase activity and a pathogenic variant in exon 10 c.1447G>T of the GAA gene in the homozygous state. ERT and ITI were initiated to improve clinical response. After the start of ERT, the patient improved and was discharged. The patient continued to receive the enzyme every two weeks as an outpatient, completing a total of 23 doses, but without developing antibodies. However, the patient died from a respiratory complication at 23 months of age. Conclusions: this case illustrates how patients with infantile-onset Pompe disease have a poor prognosis, despite enzyme replacement therapy. Further efforts are needed to improve the long-term prognosis for these patients.


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