Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease

Özet

Gaucher disease (GD) is the most prevalant lysosomal lipid storage diseasethat results from loss of function of acid β-glucosidase due to mutations inthe glucocerebrosidase gene. Common features of all types of GD includehepatosplenomegaly, cytopenia, and various patterns of bone and lunginvolvement.Retinoblastoma is a malignant tumor of the developing retina that occurs inchildren, typically before the age of five. Retinoblastoma develops from cellsthat have cancer-predisposing variants in both copies of RB1.The association between GD and retinoblastoma has not been reported untilnow. Here we report the case that was diagnosed with, retinoblastoma at theage of 2 months and then GD at the age of 11 months.Although there are controversies concerning the association between GD andcancer; malignancies should be kept in mind during GD patients follow up.