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Understanding Pompe's Disease: A Detailed Case Study Analysis

Explore a 2-month-old baby's case of severe hypotonia, weakness, and cardiac issues, diagnosed with Pompe's disease. Learn about histologic findings, enzymes, clinical subtypes, affected organs, and electron microscopy details.

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Understanding Pompe's Disease: A Detailed Case Study Analysis

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  1. Case Study 86Leonidas Arvanitis, MD

  2. Question 1: • A 2-month-old male presents with severe hypotonia and weakness, cardiac and respiratory failure • He also has a large tongue and feeding difficulties • Describe the histologic findings on the H&E stains • Click here to view H&E stains

  3. Answer 1: • Marked vacuolation of type 1 and type 2 myofibers

  4. Question 2: • Based on the most likely diagnosis what would a PAS stain show? • Click here to view PAS stains

  5. Answer 2: • The vacuoles are strongly PAS positive

  6. Question 3: • Which other histochemical will strongly highlight the vacuoles?

  7. Answer 3: • Acid phosphatase • Click here to view acid phosphatasestain

  8. Question 4: • What is your diagnosis?

  9. Answer 5: • Pompe's disease

  10. Question 6: Which enzyme is deficient in Pompe’s disease?

  11. Answer 6: • Acid maltase • a lysosomal enzyme which is responsible for hydrolyzing maltose, linear oligosaccharides and the outer chains of glycogen to glucose

  12. Question 7: • How many clinical subtypes of Pompe’s disease exist?

  13. Answer 7: • Severe infantile form • Juvenile-onset form • Adult-onset form

  14. Question 8: • What other organs can be affected?

  15. Answer 8: • Can involve heart, liver, kidney and CNS

  16. Question 9: • What would electron microscopy show?

  17. Answer 9: • Vacuolated myofibers with cytoplasmic glycogen accumulation and disruption of myofibrils

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