Gaucher disease type II
Gaucher disease type II
Definition
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
Also known as acute neuronopathic Gaucher disease, Gaucher disease type II, Gaucher disease, acute neuronopathic type, Gaucher's disease type II, infantile cerebral Gaucher disease — per MONDO