A CASE OF INFANTILE POMPE DISEASE: A CASE REPORT AND REVIEW OF INDIAN LITERATURE.

Abstract

Background: Pompe disease is a metabolic disorder due to deciency of lysosomal acid alpha-glucosidase enzyme. Deciency 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 difculty in swallowing for last 10 days. Clinical examination revealed hypotonia along with hepatosplenomegaly. Management: There was cardiomegaly evident on routine chest X ray. This signicant 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 conrmed that the GAA activity was lower than the normal range, leading to a diagnosis of Pompe disease. Infantile pompe disease Conclusion: is fatal without specic 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.