Middle-aged women with hematodiaphyseal dysplasia: Ghosal syndrome: Case report.

Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder characterized by increased bone density involving diaphyses of long bones and defective hematopoiesis. It is due to biallelic variants in the TBXAS1 (OMIM*274180) gene, which encodes for thromboxane synthase. We present a rare case of a middle-aged woman who presented with chronic anemia and bone pain. About 31-year-old Southeast Asian female with a history of persistent iron deficiency anemia (6.1 gm/dL) presents with bilateral knee pain for 4 years. Autoimmune panel turned out to be negative. CT scan of the lower limbs showed multilamellated endosteal thickening specifically involving diaphyses with severe narrowing of medullary canal. PET CT scan revealed tubular remodeling, intramedullary ground glass matrix, and mild cortical thickening with increased FDG uptake in diaphyseal regions of femur and tibia. Bone marrow biopsy of left tibia revealed fibrocellular marrow with dyserythropoiesis. Considering the slow progression of illness over 4 years and radiological evidence suggestive of bone remodeling with severe narrowing of medullary canal as the cause of anemia, the patient underwent molecular analysis for GHDD. Results revealed homozygous p.Arg412Gln (exon 11) in TBXAS1 gene. Considering the effect of NSAIDs on cyclooxygenase and its downstream metabolites, oral Aspirin 150 mg/day was initiated. Hemoglobin improved to 11 gm/dL at 3-month follow-up visit. The complexity of reaching a diagnosis of GHDD underscores the importance of maintaining a high clinical suspicion and thorough analysis of radiological evidence. The treatment for GHDD involves aspirin, a readily available drug.

Utility of spinal angiography and arterial embolization in patients undergoing CT guided alcohol injection of aggressive vertebral hemangiomas.

PURPOSE: The purpose of this study is to evaluate the role of spinal angiography and arterial embolization in avoiding spinal cord ischemia in patients undergoing CT-guided alcohol injection of aggressive vertebral hemangiomas. METHODS: In this retrospective study, patients with vertebral hemangioma who underwent CT-guided direct alcohol injection between January 2007 and October 2018 were identified. Of 28 such patients, 26 had neurological deficits, and 2 had only back pain or radiculopathy. Direct alcohol injection without prior arterial embolization was done in 17 patients. Direct alcohol injection with prior arterial embolization was done in 11 patients. Clinical outcome was assessed immediately after the intervention and at follow-up. RESULTS: Three patients, who underwent alcohol injection without trans-arterial embolization, had worsening of neurological deficits in the post procedure period due to spinal cord ischemia. No complications related to spinal cord ischemia were noted in the embolization group. There was no significant difference in the outcomes between the two groups if the three patients with complications are excluded (p = 0.34). CONCLUSION: While CT-guided direct alcohol injection is effective in the management of symptomatic and aggressive vertebral hemangiomas, spinal angiography and trans-arterial embolization of the blood supply to the vertebral body hemangioma, prior to the direct transpedicular alcohol embolization of the lesion, improves the safety of the procedure.