Niemann-Pick disease type C (NPC) is a rare lysosomal storage disease where impaired intracellular lipid trafficking leads to excess storage of cholesterol, sphingomyelin, glycosphingolipids, and sphingosine in tissues. The disease is caused by mutations in one of the two genes, NPC1 or NPC2. Lymphadenopathy and hematological especially pancytopenia in newborns or toddlers with NPC have been anecdotally reported, with limited evidence. The association of this two systemic signs must be differentiated from others blood disorders especially hematological malignancy. We report a case of NPC, in a 26-year-old girl, who presented at the age of 16 a cervical bilateral poly-lymphadenopathy, associated with hematological disorder in which all three major formed elements of the blood (red blood cells, white blood cells and platelets) are decreased in number. The case was essentially reported because of its rare occurrence (pancytopenia and poly-lymphadenopathy which are very rare systemic signs or even exceptional), and because it emphasizes the need for further studies in order to understand how defects in lipid metabolism in NPC can lead to hematological defects especially pancytopenia.

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