Infantile-onset Pompe disease with neonatal debut: A case report and literature review

Area of Science:

• Rare genetic disorders
• Neonatal screening
• Cardiomyopathy

Background:

• Infantile-onset Pompe disease (glycogen storage disease type II) is a progressive, fatal neuromuscular disorder.
• Enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase (GAA) improves survival, with early treatment yielding the best outcomes.

Observation:

• A case report of a newborn diagnosed with infantile-onset Pompe disease shortly after birth, highlighting the absence of universal neonatal screening.
• The infant presented asymptomatically, with the primary clinical manifestation being neonatal hypertrophic cardiomyopathy, notably without hypotonia or macroglossia.

Findings:

• Pompe disease was confirmed within the first week of life via GAA enzyme activity assay on dried blood spots.
• Genetic analysis revealed a homozygous p.Arg854X mutation in the GAA gene.
• Despite diagnosis, parents initially refused ERT, and the patient experienced fatal ventricular fibrillation episodes.

Implications:

• Neonatologists should consider Pompe disease in neonates presenting with hypertrophic cardiomyopathy, even in the absence of universal screening.
• Rapid diagnosis is achievable within days using dried blood spots and genetic testing.
• This case underscores the critical need for timely intervention in infantile-onset Pompe disease to prevent catastrophic outcomes.