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Updated: Dec 20, 2025
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Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation
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Ghosal Hematodiaphyseal Dysplasia: A Case Report.
Marjan Shakiba1, Shahin Shamsian2, Hamid Malekzadeh1
1Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Summary
Ghosal hematodiaphyseal dysplasia (GHDD) is a rare genetic disorder causing anemia and bone abnormalities. This case study highlights successful treatment of GHDD with prednisolone, improving anemia and splenomegaly in a young girl.
Area of Science:
- Genetics and rare diseases
- Pediatric hematology
- Skeletal dysplasias
Background:
- Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive condition.
- It is characterized by anemia and diaphyseal dysplasia of long bones.
- GHDD typically presents with steroid-responsive anemia.
Observation:
- A 3-year-old Iranian girl presented with refractory anemia and splenomegaly.
- Radiographic examination revealed metadiaphyseal dysplasia in her long bones.
- Diagnosis was confirmed through clinical evaluation and X-ray bone survey.
Findings:
- The patient exhibited symptoms consistent with GHDD.
- Treatment with oral prednisolone was initiated.
- Significant improvement in anemia and reduction in splenomegaly were observed.
Implications:
- This case highlights the potential efficacy of prednisolone in managing GHDD.
- Early diagnosis and treatment can lead to favorable outcomes in GHDD patients.
- Further research into GHDD pathogenesis and treatment is warranted.
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