Gaucher disease is a lysosomal storage disease, which is caused by a deficiency in the activity of the lysosomal enzyme glucocerebrosidase. Glucocerebrosidase is responsible for the degradation of glucosylceramide - a component of cell plasma membrane found at low levels in certain tissues. In the absence of enzyme, glucosylceramide accumulates in body cells leading to hepatomegaly, splenomegaly with subsequent hematologic abnormalities and bone manifestations. The symptoms, organ involvement, and clinical course of Gaucher disease vary greatly among individual patients. In type II Gaucher disease, also known as the infantile cerebral type or acute neuronopathic type, presentation is more acute and typically more uniform, with onset of both visceral signs and neurological involvement during the first six months of life. This includes hypertonic posturing, strabismus, trismus, and retroflexion of the head. Aspiration pneumonia and laryngospasm are often the cause of death, which generally occurs by the age of two years.

Gaucher disease type II has an incidence rate of approximately 1 in 100,000 live births. It results from mutations in the GBA gene that encodes glucocerebrosidase.