Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

Abstract excerpt

We present the third case of Niemann-Pick disease type C without neurological symptoms. The patient was a 53-year-old woman without significant prior health problems who died of acute pulmonary embolism. Autopsy findings of hepatosplenomegaly, lymphadenopathy and ceroid-rich foam cells raised the suspicion of the visceral form of acid sphingomyelinase deficiency (Niemann-Pick disease type B; NPB) or a much rarer...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Glycoproteins
• Share to Intracellular Signaling Peptides and Proteins