Ghosal Hematodiaphyseal Dysplasia: A Case Report
Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder presenting with steroid-responsive anemia and diaphyseal dysplasia of long bones. We report a 3-year-old Iranian girl with refractory anemia, splenomegaly and radiologic signs of metadiaphyseal dysplasia in long bones. The diagnosis was established by clinical presentation and X-ray bone survey. The patient was treated with oral prednisolone therapy with considerable improvement in anemia and splenomegaly.
2. Genevieve D, Proulle V, Isidor B, et al. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nat Genet. 2008;40(3):284-6.
3. Jeevan A, Doyard M, Kabra M, et al. Ghosal Type Hematodiaphyseal Dysplasia. Indian pediatr. 2016;53(4):347-8.
4. Mazaheri P, Nadkarni G, Lowe E, et al. Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia. Pediatr Blood Cancer. 2010; 55(6):1187-90.
5. John RR, Boddu D, Chaudhary N, et al. Steroid-responsive anemia in patients of Ghosal hematodiaphyseal dysplasia: simple to diagnose and easy to treat. J Pediatr Hematol Oncol.;37(4):285-9.
6. Arora R, Aggarwal S, Deme S. Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient. Skeletal Radiol. 2015;44(3):447-50.
7. Sharma R, Sierra Potchanant E, Schwartz JE, et al. Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency. Pediatr Blood Cancer. 2018;65(1).
8. Isidor B, Dagoneau N, Huber C, et al. A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. Hum Genet. 2007;121(2):269-73.
9. de Vernejoul MC, Kornak U. Heritable sclerosing bone disorders: presentation and new molecular mechanisms. Ann N Y Acad Sci. 2010;1192:269-77.