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VOLUME 1 , ISSUE 1 ( January-June, 2025 ) > List of Articles

CASE REPORT

Atypical Presentation of Pompe Disease: Overlapping Features of Infantile-onset Pompe Disease and Late-onset Pompe Disease – A Case Report

Dixa Shah, Jayshree Mahigh, Ayush Khare, Nitish Vora, Sanjiv Mehta, Siddharth Shah

Keywords : Atypical Pompe disease, Acid alpha-glucosidase enzyme level, Case report, Enzyme replacement therapy

Citation Information : Shah D, Mahigh J, Khare A, Vora N, Mehta S, Shah S. Atypical Presentation of Pompe Disease: Overlapping Features of Infantile-onset Pompe Disease and Late-onset Pompe Disease – A Case Report. J Acad Pediatr Neurol 2025; 1 (1):19-20.

DOI: 10.5005/jaopn-11028-0004

License: CC BY-NC 4.0

Published Online: 17-01-2025

Copyright Statement:  Copyright © 2025; The Author(s).


Abstract

Background: Pompe disease, a lysosomal storage disorder characterized by the deficiency of the enzyme acid alpha-glucosidase (GAA), leads to harmful glycogen accumulation within cells, resulting in muscle weakness and organ dysfunction. Clinical description: This case report discusses an atypical manifestation of Pompe disease in a 6-year-old male, who initially presented with dilated cardiomyopathy at 2.5 months and later exhibited overlapping features of both infantile and late-onset Pompe disease. Despite the typical prognosis of infantile-onset Pompe disease, which often results in early mortality, this patient survived due to timely interventions. His clinical history revealed developmental delays, hypotonia, and recurrent heart issues, ultimately leading to a diagnosis confirmed by low GAA enzyme activity. Genetic testing showed no deletions or duplications, highlighting the rarity of this presentation. Conclusion: The results highlight the significance of identifying unusual presentations of Pompe disease, which may deviate from typical timelines or symptomatology, stressing the necessity for increased vigilance in clinical environments. Enzyme replacement therapy (ERT) is crucial for effective management, and this case demonstrates the possibility of prolonged survival through early intervention and continuous treatment.


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