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Washington University Experience | METABOLIC | Pompe Disease | 3A0 Case 3 History

3A0 Case 3 History
Case 3 History (AANP Diagnostic slide session 1964, Case 1) ---- This 9 month old boy was the product of a normal full term pregnancy. At about three months of age the patient developed progressive weakness, hepatomegaly, cardiomegaly, and cardiac failure. The electromyogram was interpreted as showing muscle denervation secondary to anterior horn cell or axonal destruction. Shortly thereafter, the patient developed fatal aspiration pneumonia. At autopsy the brain and spinal cord showed no significant gross abnormalities.



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