DR JANANI M Z,DR DEVANAND CHAUDHARY GULAB,DR LAL VASUDEV D EVAYANI,DR. J. ABARNA
DOI: https://doi.org/Background:
Pompe disease (glycogen storage disease type II) is a rare autosomal recessive disorder caused by acid alpha-glucosidase (GAA) deficiency, leading to glycogen accumulation in muscle and cardiac tissue. Infantile-onset Pompe disease (IOPD) typically manifests within the first few months of life with hypotonia, macroglossia, cardiomyopathy, and failure to thrive.
Case Summary:
We report a 15-month-old female child born of consanguineous parents who presented with global developmental delay, feeding difficulties, protruded tongue, and axial hypotonia. Examination revealed facial dysmorphism, hypotonia, and areflexia. Investigations showed concentric left ventricular hypertrophy and reduced GAA activity. Genetic testing confirmed a homozygous GAA mutation. A diagnosis of IOPD was established.
Conclusion:
This case emphasizes the importance of early recognition of Pompe disease in hypotonic infants. Prompt diagnosis with enzyme assay and genetic confirmation enables timely referral for enzyme replacement therapy, significantly improving outcomes even in resource-constrained settings.
