Matthew Minn, MD

23-year-old male with a known undisclosed disease presents with left elbow pain.


Elbow radiographs demonstrate a small hyperdense, anterior elbow effusion and suggestions of erosion of the medial and lateral epicondyles. There is no evidence of fracture, dislocation or abnormal mineralization.

Sagittal MRI images (T1 and proton density fat suppressed) and gradient localizer images demonstrate a large amount of synovial thickening within the elbow joint. There is predominately low signal that shows “blooming” on localizer view gradient echo sequences. This is characteristic of hemosiderin deposition in the setting of chronic hemorrhagic products. Small areas of subchondral erosions of the epicondyles and a small effusion are also noted. These findings are those of hemophiliac arthropathy.


Hemophiliac arthropathy is a joint disease occurring in patients suffering from hemophilia related to repeated hemarthrosis. Approximately 50 percent of patients with hemophilia will develop severe arthropathy.

Hemophilia is an X-linked recessive disease that affects males resulting in a deficiency in a coagulation factor. Hemoarthrosis may occur spontaneously or from minor trauma. The affected joints are usually the knee, ankle, elbow, shoulder and hip. It is often common for the same joint to be involved repeatedly. In adulthood, hemoarthroses are uncommon, however, proliferative chronically inflamed synovium results as in the above case.

Early imaging findings include joint effusion and hemarthrosis. In later stages there is synovial hyperplasia with hemosiderin deposition, epiphyseal enlargement and severe destructive changes of the joint. MR imaging is useful in identifying the extent of disease, which is instrumental in early treatment planning. Thickened synovium with hemosiderin deposition will have low signal on all MRI sequences and also “bloom” on gradient echo sequences. MRI will also identify the extent of hemosiderin deposition, cartilage destruction, and bone erosions at an early stage. 


Arnold WD, Hilgartner MW. Hemophilic arthropathy. Current concepts of pathogenesis and management. 

Hermann G, Gilbert MS, Abdelwahab IF. Hemophilia: evaluation of musculoskeletal involvement with CT, sonography, and MR imaging. 

Jaganathan S, Gamanagatti S, Goyal A. Musculoskeletal manifestations of hemophilia: imaging features. 

Ng WH, Chu WC, Shing MK, et al. Role of imaging in management of hemophilic patients. 

Poll

23-year-old male with a known undisclosed disease presents with left elbow pain. 

Image IQ: 23-year-old Male with Elbow Pain

A 47-year-old female presents for her annual screening mammogram. The patient has a history of having “multiple moles,” and is otherwise healthy.

Dysplastic nevus syndrome/familial melanoma syndrome

CC and MLO mammogram images demonstrate multiple rounded masses bilaterally which correspond to the patient’s “moles” (**marked with the circular markers).

Photographs of the anterior and posterior thorax confirm the skin lesions which were found to be subcutaneous neurofibromas.

Neurofibromatosis is a neurocutaneous disorder (phakomatosis), with Type 1 being the most common. The abnormality on chromosome 17 results in a defect of the NF1 gene product neurofibromin, thought to be a tumor suppressor and involved in myelination. This results in an increased risk of developing benign and malignant masses.

Diagnosis of NF1 requires >2 of the following 7:

Six or more cafÃ©-au-lait spots or hyperpigmented macules ≥5 mm in diameter in children younger than 10 years and to 15 mm in adults

Two or more typical neurofibromas or one plexiform neurofibroma

Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist

Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis

First-degree relative (eg, mother, father, sister, brother) with NF1

Albright AL, Adelson PD, Pollack IF. Principles and practice of pediatric neurosurgery. Thieme Medical Pub. (2007) ISBN:1588903958..

Aoki S, Barkovich AJ, Nishimura K et-al. Neurofibromatosis types 1 and 2: cranial MR findings. Radiology. 1989;172 (2): 527-34.

Image IQ: 47-year-old with Multiple Moles, Screening Mammogram

A 50-year-old female with history of breast cancer presents for CT neck with IV contrast to evaluate for metastatic disease.

Comment: CT image at the level of the tongue base demonstrates a homogenously enhancing mass. Second CT image which is at a level lower shows no cervical lymphadenopathy (note the absence of thyroid tissue at this level).

Discussion: Ectopic/Lingual thyroid is due to arrest of thyroid tissue between the third and seventh week of gestation. Ectopic thyroid will often appear as a well circumscribed, rounded midline base of tongue mass with imaging characteristics similar to normal thyroid tissue (high density on CT due to iodine content with homogenous enhancement). Diagnosis can be confirmed with a nuclear medicine radioiodine or Tc-99m pertechnetate scan. There is an association with thyroglossal duct cysts and less commonly papillary thyroid carcinoma.

Gupta M et al: Lingual thyroid. Ear Nose Throat J. 88(6):E1, 2009
Larheim TA, Westesson P. Maxillofacial Imaging. Springer Verlag. (2008) ISBN:3540786856.

Matthew Minn, MD and Erini Makariou,  MD
Betty Lou Ourisman Breast Health Center, Georgetown University Hospital
Washington, DC

Matthew Minn, MD

Articles

Image IQ: 23-year-old Male with Elbow Pain

Image IQ: 47-year-old with Multiple Moles, Screening Mammogram

Image IQ: 50-year-old with History of Breast Cancer for Neck CT