Tumoral calcinosis

Case contributed by Dr Yasser Asiri

Presentation

Chronic bilateral painless soft tissue swelling around the hips.

Patient Data

Age: 15 years
Gender: Male
X-ray

There are large bilateral amorphous soft-tissue multilocular calcifications seen around the hips with internal cystic and sedimentation levels. The underlying bony structures are unremarkable.

MRI

On MRI, There are periarticular multilocular calcified masses with significant fluid-calcium levels involving bilateral gluteus maximus muscles with soft tissue extensions around the hips and the upper femurs. It shows heterogeneous T1 signal intensity and predominantly high T2 signal intensity with multiple calcium-fluid levels. Otherwise, unremarkable pelvic and visualized thigh muscles, pelvic bones, bilateral hip joints, bilateral upper femurs.

Case Discussion

The radiographic findings of tumoral calcinosis include periarticular amorphous calcifications or calcified cysts with calcium layering in the dependent portion giving the appearance of sedimentation sign. Combining the laboratory tests like serum chemistry levels particularly markers for assessing the phosphate metabolism is essential part of the work up. The diagnosis in this patient was also confirmed by genetics using whole exome sequencing (WES) and found to have GALNT3 mutation. These lesions are usually painless but may result in deformity or restricted motion of the adjacent joint. The patient is currently on hyperphosphatemia treatment. 

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Case information

rID: 65275
Published: 11th Jan 2019
Last edited: 12th Jan 2019
Inclusion in quiz mode: Included

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