Friday, January 22, 2010

First Case Post By Red

Hi everybody! My name is really Arthur, but some people call me "Red". Hope you like the case format. These cases are not complete and are not intended to really teach, but are just for fun.....A three month old girl presents with profound muscle weakness, and "Floppyness". On exam, hepatomegaly is noted. The chest X-ray is shown. Note Cardiomegaly. There has been no exposure to honey or home canned goods. .....The child has Pompe disease......An autosomal recessively inherited lysosomal storage disease. The deficient enzyme is alpha glucosidase, which is needed for glycogen breakdown.......The disease was first characterized by Johann Pompe in 1932. Pompe was danish, and was executed in 1945 by Nazi Germany for espionage.....The disease is also featured prominantly in the upcoming film Extraordinary Measures, which I believe is a statement against big pharama, and Bristol Myers Squib in particular. ......Besides Botulism (alluded to in the pertinent negatives of the case), a differential would include Werdig Hoffman disease. ...Stay tuned for more cases in the future. I hope to do atleast one every couple of weeks. Thanks!

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