Definition of Gaucher disease, types 2-5
Gaucher disease, types 2-5: A series of diseases due to glucocerebrosidase deficiency and accumulation of glucocerebroside in cells. By comparison with type 1 Gaucher disease, these are far less frequent forms of Gaucher disease.
Types 2 and 3 Gaucher disease are characterized by primary neurologic disease including profound involvement of the brain. The onset of symptoms is before age 2 in both types 2 and 3 with death by age 2 to 4 in type 2 and a more slowly progressive course with survival into the third or fourth decade in type 3. Types 2 and 3 are collectively known as infantile cerebral Gaucher disease.
Type 4 Gaucher disease is lethal in the perinatal period and is marked by collodion skin and hydrops fetalis.
Type 5 is the cardiovascular form of Gaucher disease with calcification of the aortic and mitral valves, mild spleen enlargement, and eye involvement.
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Last Editorial Review: 9/20/2012
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