Genetically confirmed case of ghosal hematodiaphyseal dysplasia prior to onset of radiographic changes: case report and review of literature

Abstract Background Ghosal hematodiaphyseal dysplasia (GHDD) is a rare hypoplastic anemia characterized increased bone density in the long bones with predominant diaphyseal involvement and a regenerative corticosteroid-sensitive anemia due to bone marrow fibrosis. It follows an autosomal recessive inheritance pattern and is caused by mutations in the TBXAS1 gene. Case presentation: Reporting a case of 18-month-old male with severe anemia, and thrombocytopenia, without any skeletal deformities ultimately diagnosed with GHDD. Bone marrow biopsy revealed reticulin fibrosis, and whole exome sequencing identified biallelic mutations in TBXAS1 . The patient was successfully treated with oral prednisolone, leading to improved hemoglobin, platelet counts and overall general wellbeing. Conclusion: Refractory anemia with bone marrow fibrosis should prompt pediatricians to investigate for inherited bony dysplasia. Early molecular diagnosis and treatment significantly improve outcomes in GHDD. This case uniquely demonstrates the diagnosis of GHDD at a pre-radiographic stage, highlighting the critical role of early molecular testing before the development of characteristic skeletal changes.