β-thalassemia major

Case contributed by Mostafa Elfeky
Diagnosis almost certain

Presentation

Chronic blood disease, planned for bone marrow transplantation.

Patient Data

Age: 5 years
Gender: Male
mri

Diffusely low signal throughout the bony skeleton on both T1 and T2 sequences.

Mild hepatosplenomegaly with diffuse low signal on T2, suggestive of hemosiderosis.

The gallbladder shows high T1 signal and mild decreased T2 signal, which may be due to biliary mud.

Case Discussion

A 5-year-old boy, with a known history of β-thalassemia major anemia planned for bone marrow transplantation. The bone marrow shows low T1 and T2 signals as a consequence of iron overload due to frequent blood transfusions.

The low T1 and T2 signal of the liver and spleen is suggestive of hemosiderosis. Differential diagnosis is primary hemochromatosis where iron deposition is mainly in the liver.

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