| Summary: | Objective: Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare authosomal ressesive disorder characterized by increased bone density and regenerative corticosteroid-sensitive anemia.We describe GHDD in an 11-year old Azerbaijani boy with refractory anemia,mild thrombocytopenia and radiological metadiaphyseal dysplasia.The diagnosis was made based on clinical and laboratory examinations and genetic analysis.We have observed a significant improvement of anemia after administration of steroids. Case report: An 11-year-old boy with long-standing anemia, complained of fatigue,delayed physical development,and limited range of motion in the joint.Physical examination did not reveal LAP and hepatosplenomegaly.Among the dysmorphic craniofacial changes mentioned in the literature, has a tower-shaped skull,micrognotia,drooping ears,a long and wide philtrum,and a thin upper lip.Skeletal X-ray imaging showed fibrotic changes and varying degrees of osteopenia in the metaphysis of the long tubular bones. Methodology: The blood count: Hb 7.0 g/dl,HCT 24.5%,reticulocytes 5.6%,MCV 78fL,MCHC 28.6 g/dl,WBC count 6860/mm3,platelets 165000/mm3,ESR 75 mm/h,anisocytosis in erythrocytes and platelets were observed in a peripheral blood smear.Hemoglobin electrophoresis,iron studies,vitamin B12 and folic acid were normal.Coombs test was negative.Bone marrow examination showed hypoplasia in erythroid and megakaryocytic series and dysgranulocytopoiesis. Results: After detection of exon 12 ((p.Gly473Trp),rs149988492,CM215867) in the genetic panel analysis of anemia,steroid treatment at a dose of 1 mg/kg/day was started and anemia improved at 1-month follow-up (Hb level 6.8 g/dL to 11.9 g/dL),but mild thrombocytopenia was noted to persist.The clinically insignificant CRP elevation normalized during the treatment. Conclusion: GHDD should be considered in patients with clinical and radiographic evidence of diaphyseal dysplasia as well as hematological abnormalities. In addition, bone dysplasia should be investigated in treatment-resistant hematological pathologies of unknown origin. Although GHDD is rare, clinicians should be informed that it responds well to steroid therapy.
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