/Gaucher disease type II

Gaucher disease type II

Rare Disease

MONDO:0009266

Also Known As

GD IIGaucher disease type IIGaucher disease, acute neuronopathic typeGaucher's disease type IIacute neuronopathic Gaucher diseaseinfantile cerebral Gaucher diseaseGaucher disease type 2Gaucher disease, infantile cerebralGaucher disease, type 2Gaucher disease, type IIGd 2

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.