Ghosal hematodiaphyseal dysplasia (GHDD) is a very rare autosomal recessive disease caused by prostaglandin metabolism disturbances due to biallelic mutations on chromosome 7q33-34 which lead to decrease in thromboxane synthase function. Previously long-term corticosteroid was the only treatment for GHDD. Currently, non-steroidal anti-inflammatory drugs (NSAIDs) as a targeted therapy are preferred alternatively. Here, a genetically confirmed GHDD case responsive to ibuprofen is presented.

A 9-year-old girl presented to our clinic with severe normocytic anemia, swelling, and pain in her lower limbs. In physical and radiologic examination metadiaphyseal dysplasia was diagnosed. The diagnosis of GHDD was confirmed with genetic analysis. The patient was treated with ibuprofen (30 mg/kg/day) with excellent response to both pain and hematologic parameters in 15 days period.

Ghosal hematodiaphyseal dysplasia is a very rare disease. The patients manifest with metadiaphyseal dysplasia, severe anemia, chronic fatigue, and inflammation. Previously long-term corticosteroid was the only treatment for GHDD with multiple significant long-term complication risks. NSAIDs, in this case, ibuprofen, are the current and new treatment options with relatively safe side effect profiles. But only a few cases with short-term follow-up were reported in the literature.