Ghosal Hematodiaphyseal Dysplasia: A Case Report

Abstract

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.

Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failure

“…It has been described in patients of Middle Eastern, Indian, and North African ancestry. [1][2][3] It is caused by biallelic mutations in thromboxane A synthetase 1 (TBXAS1), which encodes the protein thromboxane synthetase. 4 GHDD is universally corticosteroid responsive and an important diagnostic consideration in the workup for inherited bone marrow failure (iBMF) syndromes to avoid unnecessary hematopoietic stem cell transplantation (HSCT).…”

Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy

“…Sharma et al (2018) have used a trial of IV methylprednisolone 50 mg for 3 days followed by 50 mg of oral prednisolone for 2 weeks. Five authors have mentioned use of oral prednisolone (1 mg kg −1 day −1 ) for a month (Arora et al, 2015; Ciftciler et al, 2019; Jeevan et al, 2016; Kini et al, 2018; Shakiba et al, 2020). Maintenance therapy was given in two patients (Shakiba et al, 2020; Sharma et al, 2018).…”

“…Two novel variants (c.266T>C, p.Ile89Thr; c.989T>C, p.Leu330Pro) were identified in compound heterozygous state in TBXAS1 (Sharma, Sierra Potchanant, Schwartz, & Nalepa, 2018). We did not consider other reports of GHDD without a molecular diagnosis (Arora et al, 2015; Ciftciler, Buyukasık, Saglam, & Haznedaroglu, 2019; Kini, Kumar, Moideen, & Narain, 2018; Shakiba, Shamsian, Malekzadeh, & Yasaei, 2020).…”

“…The founder variant p.Arg413Gln was first described in three patients belonging to a Pakistani family (two asymptomatic and one symptomatic child) and upper femoral diaphyses (Geneviève et al, 2008). Jeevan et al (2016) (Arora et al, 2015;Ciftciler, Buyukasık, Saglam, & Haznedaroglu, 2019;Kini, Kumar, Moideen, & Narain, 2018;Shakiba, Shamsian, Malekzadeh, & Yasaei, 2020).…”

“…Maintenance therapy was given in two patients (Shakiba et al, 2020;Sharma et al, 2018). All these patients when treated with either IV or oral corticosteroids showed remarkable clinical improvement.…”