A Case Report on the Outcome of Infantile Pompe Disease

Background: Pompe disease, or glycogen storage disease Type II, is an autosomal recessive disorder caused by a deficiency of acid α-1,4- glucosidase, leading to lysosomal glycogen accumulation in muscle tissues. Infantile Pompe disease (IPD) typically presents within the first weeks of life and is often fatal without enzyme replacement therapy (ERT). This report details the clinical course and outcome of a sevenmonth-old male diagnosed with IPD. Case Presentation: A seven-month-old male infant, born full-term to consanguineous parents, was admitted due to a severe respiratory infection. Clinical features included hypotonia, swallowing difficulties, and failure to thrive (weight: 6 kg, <5th percentile). Laboratory tests showed elevated SGOT (95), SGPT (235), and CPK (700). An ECG revealed a short PR interval and prolonged QRS duration. Echocardiography indicated severe hypertrophic cardiomyopathy with systolic dysfunction. Enzyme assays confirmed critically low α-1,4- glucosidase levels (0.1 μmol/L/h), and genetic testing identified a homozygous mutation (c.1942 G > C), confirming Pompe disease. The infant passed away before ERT could be initiated. Conclusion: This case highlights the challenges in diagnosing and managing Pompe disease in infants. The child's symptoms and lab results indicated a metabolic disorder, underscoring the multisystem impact of IPD. Rapid disease progression and consanguinity were significant factors. The delayed diagnosis led to a tragic outcome, emphasizing the need for early recognition and intervention. Timely ERT is crucial, as IPD can be fatal without it. This case underscores the importance of increased awareness and improved diagnostic protocols, particularly in consanguineous families and atypical presentations. Early diagnosis and intervention are essential for better outcomes.