AI Article Synopsis
- Ghosal hematodiaphyseal dysplasia (GHDD) is a rare genetic disorder characterized by anemia that responds to steroids and skeletal abnormalities in the long bones.
- A case study describes a 3-year-old Iranian girl with severe anemia, an enlarged spleen, and X-ray evidence of bone abnormalities.
- The girl's diagnosis was confirmed through clinical evaluation and X-rays, and she showed significant improvement after treatment with oral prednisolone.
Article 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.
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