Affiliation:
1. Post graduate trainee, Department of Paediatric medicine Bankura Sammilani Medical College and Hospital, Bankura, India.
2. Associate Professor, Department of Paediatric medicine Bankura Sammilani Medical College and Hospital, Bankura, India.
Abstract
Background: Pompe disease is a metabolic disorder due to deciency of lysosomal acid alpha-glucosidase enzyme. Deciency of this enzyme
leads to lysosomal glycogen accumulation in multiple tissues and cell types, predominantly affecting cardiac, skeletal, and smooth muscle cells,
eventually causing progressive muscle destruction. The pattern of inheritance is autosomal recessive. Our case describes a Clinical Description:
four-month-old female child, rst born baby to a non-consanguineous marriage, who presented to our out-patient department with respiratory tract
infection, and difculty in swallowing for last 10 days. Clinical examination revealed hypotonia along with hepatosplenomegaly. Management:
There was cardiomegaly evident on routine chest X ray. This signicant nding was further dwelled upon and an ECG with echocardiography was
planned. ECG showed short PR interval with tall QRS complex, and Echocardiography revealed a hypertrophic cardiomyopathy. Based on the
above ndings, the importance of ruling out possible storage disorders was considered eminent. Further tests revealed elevated CPK and LDH.
Based on the clinical ndings and laboratory results, the differentials of storage disorders were narrowed to Pompe disease. Dried blood spots for
quantitative enzyme assay of acid alpha glucosidase (GAA) activity were tested. The result conrmed that the GAA activity was lower than the
normal range, leading to a diagnosis of Pompe disease. Infantile pompe disease Conclusion: is fatal without specic enzyme replacement therapy.
The subtle clinical features or routine ndings heralding this ominous disease need to be dealt with a high index of suspicion for the same, the
advantage being early diagnosis and initiation of enzyme replacement therapy.