DOI: 10.36347/sjmcr.2021.v09i11.007

Pages: 1069-1070

Sphingolipidosis is epidemiologically associated with an increased risk of cancer. This disease is accompanied by a storage of sphingolipids, glucosylceramide and glucosylsphingosine [1], mainly in hematopoietic organs. Sphingolipids are bioactive effectors involved in many cellular functions including proliferation and apoptosis. We hypothesize that the increase in glucosylceramide and/or the ceramide/glucosylceramide imbalance produced by GCase deficiency may contribute to tumor development. The mechanisms responsible for the overrepresentation of cancers in these diseases are currently unknown. It is not known whether it is excess glucosylceramide in the cancer cell that is involved in the pathophysiology or whether it is changes in the tumor microenvironment [2]. Observation: We report a case of a 3-year-old child admitted for bone marrow failure syndrome associated with a tumor syndrome and in whom a workup confirmed acute lymphoblastic leukemia. A concomitant blood and urine amino acid chromatography revealed the presence of sphingolipidosis. Conclusion: Several sphingolipids, play crucial roles in various stages of oncogenesis, so the determination of these markers in leukemia patients should be considered.