Joannes Cassianus Pompe (9 September 1901,

Utrecht Utrecht ( ; ; ) is the List of cities in the Netherlands by province, fourth-largest city of the Netherlands, as well as the capital and the most populous city of the Provinces of the Netherlands, province of Utrecht (province), Utrecht. The ...

– 15 April 1945,

Sint Pancras Sint Pancras ( West Frisian: ''Sundebankreas'') is a town in the northwestern Netherlands. It is located in the municipality of Dijk en Waard, North Holland, about 5 km northeast of Alkmaar. History The village was founded in the 14th cent ...

) was a Dutch pathologist. In 1932, he characterized the condition now known as

Glycogen storage disease type II Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. ...

. It is sometimes referred to as Pompe disease.

Original disease description

He studied medicine at the

University of Utrecht Utrecht University (UU; , formerly ''Rijksuniversiteit Utrecht'') is a public research university in Utrecht, Netherlands. Established , it is one of the oldest universities in the Netherlands. In 2023, it had an enrollment of 39,769 students, a ...

, and trained as a pathologist in

Amsterdam Amsterdam ( , ; ; ) is the capital of the Netherlands, capital and Municipalities of the Netherlands, largest city of the Kingdom of the Netherlands. It has a population of 933,680 in June 2024 within the city proper, 1,457,018 in the City Re ...

. During this time he came across the symptoms of what is now known as Pompe's disease, or

, which he described in his 1932 publication ''Over idiopathische hypertrophie van het hart'' (English: ''About idiopathic hypertrophy of the heart''). On December 27, 1930, Dr. Pompe had carried out an autopsy on a 7-month old girl who had died of unknown causes. He found the enlarged heart now known to be characteristic of the infantile form of the disease and had some microscopy slides prepared. These showed that the muscle tissue was distorted into a pentagonal mesh.

Execution by the Nazis

He was arrested in 1945 by the Nazis for hiding a transmitter in his lab used to send messages to the UK on behalf of the resistance. He and 19 others were executed two months later as a reprisal for the destruction of a railway bridge by the resistance.Biography
at http://pompestory.blogspot.com His older brother was Professor Willem Pompe who was a prominent criminologist at the University of Utrecht and namesake of the Willem Pompe institute.

References

1901 births 1945 deaths 20th-century Dutch physicians Dutch pathologists Dutch resistance members Dutch civilians killed in World War II Dutch people executed by Nazi Germany Physicians from Utrecht (city) Utrecht University alumni Resistance members killed by Nazi Germany {{Netherlands-med-bio-stub