6. Type 2 Gaucher disease


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This is type 2 Gaucher Disease, which can present at birth with collodion skin babies and phenotype, or a little later after birth with massive hepatosplenomegaly which rapidly evolves into brainstem signs and neurodegenerative disease. Type 2 Gaucher Disease can present with acuities when it presents at birth, but hepatosplenomegaly is common in all forms of type 2 Gaucher Disease. Generally bone manifestations are not an important feature, there are no cardiac manifestations but neurodegenerative disease is very common. It is pan-ethnic and it is lethal within the first 1 or 2 years of life. 

 

 

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