“ This is an inherited disorder of haemoglobin synthesis. There is decreased/absent production of P-chains, resulting in marrow hyperactivit...
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This is an inherited disorder of haemoglobin synthesis. There is decreased/absent production of P-chains, resulting in marrow hyperactivity and excess production of foetal haemoglobin. Marrow hyperactivity causes marrow hypertrophy, resulting in skull/facial deformities, pathological fractures and retarded growth. Haemoglobinopathy results in extramedullary haematopoiesis and hepatosplenomegaly.
CHEST X-RAY
• Posterior mediastinal mass in the mid-lower thorax (i.e. paraspinal mass from extramedullary haematopoiesis)
SKULL X-RAY
• Maxillary hypertrophy and forward placement of the incisors producing ‘rodent facies’ appearance (considered pathognomic)
• Hypoplastic paranasal sinuses and mastoid air cells
• ‘Hair on end’ appearance with widening of diplopic spaces in the skull
• Thinned outer skull table
APPENDICULAR X-RAYS
• Osteopenia with thinned cortices and coarse trabeculation
• Mild expansion of the medullary cavities
• Erlenmeyer flask deformity of the femora
• ‘Bone within bone’ appearance
• Premature fusion of the epiphyses
Thalassaemia. AP (a) and lateral (b) lumbar spine radiographs demonstrating osteopenia, medullary expansion, thinned cortices and coarsening of the trabeculae.
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