International Journal of Hematology and TherapyInternational Journal of Hematology and TherapyInternational Journal of Hematology and TherapyInternational Journal of Hematology and Therapy2381-1404Ommega Online PublishersNew Jersey, USA163410.15436/2381-1404.18.1634Research ArticleNiemann-Pick Disease Type C, A Rare Cause of Pancytopenia: A Case ReportNiemann-Pick Disease Type C, A Rare Cause of Pancytopenia: A Case ReportNaimaSghaier 1Department of Internal Medicine and Endocrinology Taher Sfar University Hospital Mahdia Tunisia 2Department of Psychiatry Taher Sfar University Hospital Mahdia Tunisia Editor* E-mail: naimasghaeir@yahoo.fr
The authors have declared that no competing interests exist.
20180702201841IJHT-17-CR-163407082017310120182018Creative Commons Attribution LicenseThis is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. nbsp nbsp nbsp nbsp Niemann-Pick disease type C NPC is a rare lysosomal storage disease where impaired intracellular lipid trafficking leads to excess storage of cholesterol sphingomyelin lycosphingolipids 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 10