Ghosal Hematodiaphyseal Dysplasia: A Case Report



Shakiba M¹ ; Shamsian S² ; Malekzadeh H¹ ; Yasaei M¹
Source: International Journal of Hematology-Oncology and Stem Cell Research Published:2020

Abstract

Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder presenting with steroid-responsive anemia and diaphyseal dysplasia of long bones. We report a 3-year-old Iranian girl with refractory anemia, splenomegaly and radiologic signs of metadiaphyseal dysplasia in long bones. The diagnosis was established by clinical presentation and X-ray bone survey. The patient was treated with oral prednisolone therapy with considerable improvement in anemia and splenomegaly. © 2020, Tehran University of Medical Sciences (TUMS). All rights reserved.