Ghosal Hematodiaphyseal Dysplasia: A Case Report

  • Marjan Shakiba
  • Shahin Shamsian
  • Hamid Malekzadeh
  • Mehrdad Yasaei
Keywords: Ghosal syndrome; Anemia; Diaphyseal dysplasia

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.

Published
2020-04-17
Section
Articles