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Case report of a 32 month old boy with Gaucher's disease. He had an evolution of 22 months with neurological symptoms. The spleen was removed and was studied with light and electron microscopy. The study disclosed the typical morphological features of Gaucher's cells. A correlation was established between symptomatology, radiological findings and anatomic alterations in post mortem studies. An interesting fact is the absence of the disease in other family members and therefore this case may represent an example of a recent mutation. General considerations on the current concept of this disease are also discussed.