Clinical History
Teenage male with normal developmental milestones but difficulty playing sports or running.
What’s the diagnosis?
Here are the diagnostic images for reference:
Diagnosis:
Pompe disease. This is the same case as last week. The histology of the specimen contained numerous inclusion body-like structures. This case could easily be confused with an inherited/familial inclusion body myopathy. In this case, the pathogenic mutation in GAA clarifies the diagnosis.
Quick note: This post is to be used for informational purposes only and does not constitute medical or health advice. Each person should consult their own doctor with respect to matters referenced. Arkana Laboratories assumes no liability for actions taken in reliance upon the information contained herein.
