Gaucher Disease – Children’s Health

Type 1 Gaucher disease, is the most common form of Gaucher disease and can begin from childhood to adulthood. This type is most common among people of Ashkenazi Jewish ancestry. It results in growth failure, delayed puberty, an enlarged liver, and spleen and bone abnormalities. Type 1 Gaucher disease may lead to severe liver disease, including increased risk of bleeding from the stomach and esophagus and liver cancer.

Type 2 Gaucher disease is the rarest form. It occurs during infancy and usually causes death by age 2 years. Affected infants have an enlarged spleen and severe neurologic problems (such as seizures and rigid limbs).

Type 3 Gaucher disease, the juvenile form, can begin at any time during childhood. Children with this type have an enlarged liver and spleen, bone abnormalities, eye problems, and slowly progressive neurologic problems (such as dementia and lack of coordination [ataxia]). Children who survive to adolescence may live for many years.