Author/Authors :
Shakiba, Marjan Department of Pediatric Endocrinology and Metabolism - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Shamsian, Shahin Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Malekzadeh, Hamid Department of Pediatric Endocrinology and Metabolism - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Yasaei, Mehrdad Department of Pediatric Endocrinology and Metabolism - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran
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.
