Niemann-Pick disease

American  

[nee-muhn-pik di-zeez] / ˈni mənˈpɪk dɪˈziz /

noun

Pathology.

1. a rare, hereditary lipid-storage disease, occurring primarily among Ashkenazic Jews, in which abnormal lipid metabolism results in enlargement of the liver, spleen, and lymph nodes, and in progressive mental and physical deterioration.

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Etymology

Origin of Niemann-Pick disease

Described independently by German physicians Albert Niemann (1880–1921) in 1914 and Ludwig Pick (1868–1944) in 1926

Example Sentences

But then both of them experienced troubling symptoms, precipitating multiple medical tests, and then finally, a devastating dual diagnosis: a rare, debilitating and fatal neurodegenerative disease known as Niemann-Pick disease type C.

From Salon • Feb. 19, 2023

Toni Mathieson, 52, first heard of Niemann-Pick disease when her daughter Lucy was about five weeks old.

From BBC • Jul. 9, 2021

The Roehls both carry the gene for Niemann-Pick disease, a metabolic disorder that has already taken the life of their first child.

From Time Magazine Archive