5. Type 1 Gaucher: Signs & Symptoms


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Type 1 Gaucher Disease almost invariably involves the presence of at least one N370S mutation, and it can occur from young age to older childhood as shown here. Important features are growth failure, anemia, thrombocytopenia, hepatosplenomegaly, that can even be avascular osteonecrosis, osteopenia and pathological fractures as well as presence of Erienmeyer flask deformity.

 

 

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