From the suspicious of neoplasm to the diagnosis of lysosomal storage disease: Gaucher disease, case report.

De una sospecha de neoplasia al diagnóstico de una enfermedad por almacenamiento lisosomal: enfermedad de Gaucher, un reporte de caso

Gaucher disease is the most common Lysosomal Storage Disease, it is caused by the defective function of the Glucosylceramidase enzyme that generates the accumulation of its substrate, glucosylceramide. Given that the signs and symptoms are very variable and depend on the organ affected by glucosylceramide deposition, it is relevant to know the key aspects of this pathology to be able to give an accurate diagnosis and thus timely treatment. Clinical case: A 50-year-old female patient presents with a history of hepatosplenomegaly, thrombocytopenia, and bone pain.  At first, a neoplasia was suspected, and a positon emission tomography was performed with foci of hypermetabolism and cytolytics in the axial and appendicular bone marrow, a bone marrow biopsy shows 90% involvement by histiocytes and evidence of decreased activity of Glucosylceramidase. Conclusions: Suspicion should be raisd and screening for Gaucher Disease must be done, in case of signs and symptoms such as splenomegaly, thrombocytopenia and/or bone pain. Taking in to account this is a  rare disease, the only way of making a diagnosis is thinking about it, and thus initiate the appropriate treatment that helps improve the quality of life of patients.