Ghosal Hematodiaphyseal Dysplasia: A Case Report

Marjan Shakiba, Shahin Shamsian, Hamid Malekzadeh, Mehrdad Yasaei
2020 International Journal of Hematology-Oncology and Stem Cell Research  
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.
doi:10.18502/ijhoscr.v14i2.2677 fatcat:4b52zv5dynawroksobjhvjo7ue