Figen Batman

Idiopathic fibrosclerosis of bilateral orbits, bilateral ureters, thyroid: a case report and review of the literature.

Introduction: Idiopathic multifocal fibrosclerosis is a rare disorder which is usually misdiagnosed in the clinics. We try to make a review of the literature about this large spectrum syndrome and treatment modalities other than surgery. Our patient interestingly have both fibrosclerosis of bilateral ureters, orbits and thyroid. Steroids, radiotherapy, tamoxifen, vitaminD3, colchisine was found to be in effective in treatment of progressive fibrosis.

Congenital Dyserythropoietic Anemia Type II in a Woman Presenting with Jaundice, Anemia, and Splenomegaly

Congenital dyserythropoietic anemias (CDAs) are extremely rare types of hemolytic anemias that share similar morphological findings and are characterized by ineffective erythropoiesis. CDAs are divided into three major groups and few variants. The most frequently encountered type is CDA type II (HEMPAS: Hereditary erythroblastic multinuclearity associated with a positive acidified serum test). We herein report a case of CDA type II, who presents with a mild anemia, jaundice, splenomegaly, cholelithiasis and hemolysis. CDA type II, about 120 cases have been reported so far, has recently been discovered to be due to the defective glycolization of membrane proteins on the erythrocyte progenitors. The responsible gene has been found to be located on the Chromosome 20q only a few years ago.