A random finding of splenomegaly as the main symptom leading to the diagnosis of Niemann‑Pick type B disease in an adult patient
2023
Abstract
Niemann-Pick disease type B (NPB) is a rare inherited metabolic disease that has a very wide spectrum of symptoms with different ages of onset and severity. Accurate diagnosis is based on an enzymological and genetic examination.
Currently, a specific treatment using enzyme replacement therapy with olipudase alfa is already available. In this article, we present an adult patient with a random finding of splenomegaly, in whom the diagnosis of NPB was subsequently confirmed.