Niemann-Pick disease historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Historical Perspective

In 1914, A. Niemann reported an 18-month-old girl presented with progressive mental and motor deterioration with hepatosplenomegaly suggestive of type 2 Gaucher disease. In 1927, Ludwig Pick described the clinicopathologic features which helped differentiate these two disorders. In 1966, the defective enzyme was first identified by R. O. Brady at the National Institutes of Health (NIH).