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.

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.

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.

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.

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.