Gaucher disease is an autosomal recessive lysosomal storage disease that results from a deficiency of glucocerebrosidase, which leads to an accumulation of glucocerebroside. Type 2 of the disease begins within the first 6 months of life and is rapidly progressive. Symptoms include hepatosplenomegaly, spasticity, seizures, progressive brain damage and cognitive dysfunction, apnea, eye movement abnormalities, opisthotonic posture, and failure to thrive with poor suck and difficulty swallowing. Prognosis is poor and most children die before age 3.

Related topic: Gaucher Disease Type 1