Joannes Cassianus Pompe

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Joannes Cassianus Pompe (1901-1945) was a Dutch pathologist.[1]

He characterized the condition now known as Glycogen storage disease type II in 1932.[2] It is sometimes referred to by his name.[3]

He studied medicine at the University of Utrecht and during this time came across the symptoms of what is now known as infantile Pompe disease, or Glycogen storage disease type II, which he described in his 1932 publication Over idiopathische hypertrophie van het hart. On December 27, 1930, Dr. Pompe had carried out a postmortem on a 7-month old girl who had died of pneumonia. He found the enlarged heart now known to be characteristic of the infantile form of the disease and had some microscope slides prepared. These showed that the muscle tissue was distorted into an oval mesh. [4]

He was executed by the German army in April 1945 for espionage.[5]

References[edit]

  1. ^ Kroos M, Pomponio RJ, van Vliet L, et al. (June 2008). "Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating". Hum. Mutat. 29 (6): E13–26. doi:10.1002/humu.20745. PMID 18425781. 
  2. ^ Pompe J-C. Over idiopatische hypertropie van het hart. Ned Tijdscr Geneeskd 1932; 76:304.
  3. ^ O'Donnell, Kevin. "Pompe disease - the real story". Retrieved 16 December 2013. 
  4. ^ Whitworth, Judith A.; Firkin, Barry G. (1996). Dictionary of medical eponyms. New York: Parthenon Pub. p. 312. ISBN 1-85070-333-7.