Answer for BIR CoW 07 Sep 2025
Thalassemia major- Calvarial changes
Findings
Diffuse calvarial thickening and expansion of diploic space along with usual loss of trabecular bone.
Discussion
Thalassemia is a hereditary disorder of hemoglobin synthesis characterized by anemia. It is classified into three forms based on disease severity: major, minor, and intermediate. Synonyms include Cooley’s anemia and Mediterranean anemia.
Clinical Features:
- Onset typically occurs in the last half of the first year of life, with survival beyond the third decade being rare.
- Symptoms include pallor, underdevelopment, organomegaly (enlarged liver and spleen), altered facies, and abnormal blood examination findings.
Pathologic Features:
- Bone marrow hyperplasia leads to cortical thinning, widened medullary cavities, loss of tubulation, and coarse trabeculae resembling a honeycomb pattern.
- Associated conditions include growth disturbances, fractures, chondrocalcinosis, and hemochromatosis.
Radiologic Features:
- Spine: Coarse trabeculae, thinned cortices, and normal endplates.
- Skull: Earliest and most prominent changes in the frontal bone, with granular appearance, widened diploë, and radiating spicules ("hair on end" appearance).
- Sinuses: Obliterated, contributing to a "rodent facies" appearance.
- Chest: Cardiomegaly, posterior mediastinal masses, opaque liver and lymph nodes, rib expansion, and coarsened trabeculae.
Findings
Diffuse calvarial thickening and expansion of diploic space along with usual loss of trabecular bone.
Discussion
Thalassemia is a hereditary disorder of hemoglobin synthesis characterized by anemia. It is classified into three forms based on disease severity: major, minor, and intermediate. Synonyms include Cooley’s anemia and Mediterranean anemia.
Clinical Features:
- Onset typically occurs in the last half of the first year of life, with survival beyond the third decade being rare.
- Symptoms include pallor, underdevelopment, organomegaly (enlarged liver and spleen), altered facies, and abnormal blood examination findings.
Pathologic Features:
- Bone marrow hyperplasia leads to cortical thinning, widened medullary cavities, loss of tubulation, and coarse trabeculae resembling a honeycomb pattern.
- Associated conditions include growth disturbances, fractures, chondrocalcinosis, and hemochromatosis.
Radiologic Features:
- Spine: Coarse trabeculae, thinned cortices, and normal endplates.
- Skull: Earliest and most prominent changes in the frontal bone, with granular appearance, widened diploë, and radiating spicules ("hair on end" appearance).
- Sinuses: Obliterated, contributing to a "rodent facies" appearance.
- Chest: Cardiomegaly, posterior mediastinal masses, opaque liver and lymph nodes, rib expansion, and coarsened trabeculae.
Note:
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!