SHM Converge Scientific Abstract ePoster Gallery-An Unusual Case of Pembrolizumab-Induced Myasthenia Gravis

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This case report describes a 31-year-old Southeast Asian woman diagnosed with Ghosal hematodiaphyseal dysplasia (GHDD), a rare autosomal recessive disorder caused by TBXAS1 gene dysfunction. The condition typically leads to myelophthisic anemia and characteristic long-bone abnormalities.<br /><br />The patient had four years of bilateral knee pain and a history of chronic iron deficiency anemia, with hemoglobin as low as 6.1 g/dL. Autoimmune testing was negative. Imaging showed classic skeletal findings: CT of the lower limbs revealed multilamellated endosteal thickening of the diaphyses and severe narrowing of the medullary canal, while PET-CT demonstrated tubular remodeling, intramedullary ground-glass changes, and mild cortical thickening. Bone marrow biopsy showed fibrocellular marrow with dyserythropoiesis. Genetic testing identified a homozygous TBXAS1 mutation, p.Arg412Gln in exon 11, which had not been previously reported.<br /><br />She was treated with oral aspirin 150 mg daily. At three months, her symptoms improved and hemoglobin rose to 11 g/dL.<br /><br />The discussion emphasizes that adult-onset GHDD is very rare and can be difficult to diagnose without careful correlation of clinical, radiologic, and genetic findings. TBXAS1 dysfunction is thought to increase prostaglandin production, impair osteoclast activity, and cause bone marrow sclerosis. Although corticosteroids have been used previously, recent evidence suggests NSAIDs such as aspirin or ibuprofen may be effective and safer first-line therapy.<br /><br />The report highlights the importance of recognizing GHDD in adults and suggests low-dose NSAIDs as a promising treatment option.

Asset Subtitle

Rafael Cavalcante

Meta Tag

Author List Rafael Cavalcante, Soumya Yemme, Elizabeth Chandy, Dhiman Basu, Bidisha Baral

Category Clinical Vignettes

Concept Ghosal Hematodiaphyseal Dysplasia

Concept Bone pain

Concept Anemia

Concept TBXAS1

Concept Endosteal Thickening

Distinguished Non-Finalist

Presenter Organization Texas Health Resources

Presenting Author Rafael Cavalcante

Track Adult

Keywords

Ghosal hematodiaphyseal dysplasia

GHDD

TBXAS1 mutation

myelophthisic anemia

long-bone abnormalities

endosteal thickening

bone marrow biopsy

dyserythropoiesis

aspirin therapy

adult-onset rare disorder

Ghosal Hematodiaphyseal Dysplasia

Bone pain

Anemia

TBXAS1

Endosteal Thickening