Ghosal hematodiaphyseal dysplasia: A rare cause of a myelophthisic anemia

Abstract

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare clinical syndrome characterized by increased bone density and a severe, myelophthisic anemia. Few cases have been reported worldwide and there are no detailed descriptions of the associated hematologic abnormalities and long-term clinical outcomes after treatment. Here, we report two siblings with GHDD who were successfully treated with chronic, low dose, corticosteroid therapy. Although GHDD is uncommon, these cases illustrate the need to consider GHDD in patients with anemia and bone dysplasia and the use of chronic, low-dose steroid therapy.

Chronic steroid‐response pancytopenia and increased bone density due to thromboxane synthase deficiency

“…Clinical course of GHDD appears highly variable. First, while some individuals present exclusively with anemia, other develop pancytopenia similar to our patient (Fig. A).…”

“…A). Second, radiographic findings in GHDD range from severe diffuse bone thickening in a 1.5‐year‐old child to Erlenmeyer flask‐like deformity with bowed femurs in a 20‐month‐old male child to subtle diaphyseal thickening observed in our 32‐year‐old patient (Figs. B–1C).…”

Ghosal Hematodiaphyseal Dysplasia: A Case Report

“…Other radiographic abnormalities such as Erlenmeyer flask-like deformity and base of skull sclerosis have also been reported [4][5][6] . Bone marrow could be normocellularor hypocellular with some degrees of fibrosis, on which some authors have proposed GHDD as an etiology of myelophthisic anemia.…”

“…Ghosal hematodiaphyseal syndrome (GHDD; OMIM #231095) is a rare autosomal recessive disorder characterized by bone marrow dysfunction and increased long bone density with metadiaphyseal dysplasia 2,4 . Almost all of the GHDD cases reported to date have origins of the Indian subcontinent and Middle East with variable clinical features.…”

“…Splenomegaly, detected in our patient, has been reported in some cases before and responded well to steroid therapy. Maintenance steroid therapy was needed in most of the cases, ranging from 0.1 mg/kg/day to 1.5 mg/kg/day 4,5 . Research to discover the responsible gene of the disease revealed a homozygote mutation in the TBXAS1 gene on chromosome 7q33-34 causing impairment in the thromboxane-A synthase.…”