Presentamos 2 casos clínicos de enfermedad de Gaucher tipo 1 en la infancia y su evolución tras 9 años de tratamiento de sustitución enzimática (TSE). El caso 1 es un niño de 6 años diagnosticado de enfermedad de Gaucher tras haber presentado, coincidiendo con la varicela, un exantema petequial, trombocitopenia, anemia y hepatoesplenomegalia. El caso 2 es una niña remitida a la consulta a los 9 años de edad. Presentaba hepatoesplenomegalia desde los 4 meses y, posteriormente, comenzó con trombocitopenia. Los 2 presentan la mutación N370S/L444P. Se inició TSE con imiglucerasa a 60U/kg cada 2 semanas a los 6 y 9 años, respectivamente. En ambos se alcanzaron los objetivos terapéuticos y se han mantenido a lo largo del tratamiento con una dosis de 30U/kg.

We report two cases of type 1 Gaucher's disease in childhood and their outcomes after 9 years of enzyme replacement therapy. The first case concerns a 6-year-old boy who was diagnosed with Gaucher's disease after developing petechial exanthema, thrombocytopenia, anemia and hepatosplenomegaly, coinciding with chickenpox. The second case involves a 9-year-old girl who was referred to our unit. She had hepatosplenomegaly since 4-month-old and sub sequently developed thrombocytopenia. Both patients have the N370S/L444P mutation. Enzyme replacement therapy was started with 60U/kg imiglucerase every 2 weeks at the age of 6 and 9 years, respectively. In both patients, the therapeutic goals were achieved and maintained throughout treatment with a dose of 30U/kg.