Series editor: Eric Bogner MD

A 55-year-old man presented with bilateral knee pain. The images of his knees and chest (below) suggested a hereditary condition.

Gaucher’s disease is a lysosomal storage disorder in which the patient lacks the enzyme gluococerbrosidase, leading to accumulation of glucocerebroside within the lysosomes of macrophages. These Gaucher cells tend to deposit in the organs of the reticuloendothelial system such as the liver, spleen, and bone marrow. Accumulation in the bone marrow leads to osteopenia (visible as foci of radiolucency), which can predispose to fracture.

Accumulation within the marrow can also cause expansion of the bone, yielding an Erlenmeyer flask deformity visible in radiographs from this patient. [See Figures 1, 2, and 3 below.]

Gaucher’s also predisposes to bone infarcts, which can be seen in the medullary space or the ends of the bone. [See Figure 4, taken from another case.]

H-shaped vertebrae are thought to be secondary to an ischemic growth disturbance at the central portion of the chondro-osseous junction. [See Figure 5, from yet another case]

Replacement of the marrow tends to yield low-signal T1 and low signal T2 marrow, but this may be patchy in appearance. [Figure 6, also a different case] Areas of increased T2 signal may be seen in the setting of infarction and a more “active marrow process,” such as ongoing ischemia.

Radiographs of both knees demonstrate an undertubulation of the distal left femur (or 

). Sclerotic and cystic radiolucent changes are visible in the distal femora. Similar findings are present in the tibiae. 

Cystic and sclerotic changes are visible in the left humeral head, indicating avascular necrosis. (Look for green arrow at far upper right.)

Top arrow: Erlenmeyer flask deformity. Lower 2 arrows: Sclerotic and cystic changes of the distal femora

 Different case. Coronal IR MR images right humerus. 

MRI of the right humerus demonstrates diffuse, increased signal with a well- demarcated, serpiginous-type focus of low and high signal intensity in the proximal humerus, representing an infarct.

 (Same patient as Figure 4, right humerus.) 

Arrow shows a focus of avascular necrosis.

 Third patient. Sagittal IR and Sagittal T1 MRI of lumbar spine. 

These images of the lumbar spine demonstrate persistent, diffuse low signal intensity of the vertebrae, with a compression fracture of L1.

  (Same patient as Figure 6.) Coronal T2 MRI of lumbar spine. 

The liver also demonstrates a markedly low signal intensity.

  Sagittal T1 and coronal T2 images of lumbar spine. 

This second set of MR images of the lumbar spine demonstrates a more heterogeneous signal of the marrow. Focal areas of necrosis are seen within the vertebral bodies as well as H-shaped vertebrae (arrows).

[Drawn from the imaging case study collection of Hospital for Special Surgery, with permission.]

 4th Ed. 2002.

2. Poll LW, Koch JA, vom Dahl S, 

Magnetic Resonance Imaging of Bone Marrow Changes in Gaucher Disease During Enzyme Replacement Therapy: First German Long-term Results.

2001) 30(9):496-503.

3. Hermann G, Shapiro RS, Abdelwahab IF

 MR Imaging in Adults with Gaucher Disease Type I: Evaluation of Marrow Involvement and Disease Activity. 

Articles

Gaucher's Disease

A 57-year-old man, who is on hemodialysis, presented with complaints of pain in his shoulder, wrist, and hip.

Radiographs demonstrated marked soft tissue swelling of the right shoulder and a relative preservation of the glenohumeral joint.  (Note the renal dialysis catheter.) 

The right wrist demonstrates marked atherosclerotic disease with suggestion of multiple radiolucencies or “holes in the bones,” most notably in the scaphoid

The MRI demonstrates multiple cyst-like foci about the left hip, with preservation of the left hip joint.

There is also massive thickening of the bilateral hamstring origins

Amyloidosis can occur as a primary, idiopathic process but is more commonly seen in the setting of renal pathology or multiple myeloma.

There are multiple types of amyloid that can be deposited about the musculoskeletal system. Deposition is typically in the periarticular soft tissue, within tendons or ligaments, or within the bones about a joint.  Deposition of the ossesous structures is seen as nonspecific radiolucencies which can appear as soft tissue or cyst like lesions on cross sectional imaging.

There is classically a relative preservation of the joint space which on occasion may be narrowed from a long standing process or secondary processes such as osteoenecrosis with secondary arthrosis.

Adapted from the teaching files of the Department of Radiology and Imaging at Hospital for Special Surgery. Series editor: Eric Bogner MD, Associate Attending Radiologist. - See more at: http://www.rheumatologynetwork.com/myositis/myositis-ossificans#sthash.WqfrLVwm.dpuf

Resnick. Bone and Joint Disorders. 3rd edition. Vol. 3. 2002

 Musculoskeletal manifestations of amyloidosis. A review of 83 patients on haemodialysis for at least 10 years.

The man, who is on dialysis, presented with pain in numerous joints at once. The images don't show signs of arthritis. Can you guess the diagnosis from descriptions of the findings?

57-Year-Old Man With Multiple Sources of Pain

This 87-year-old woman presented with left hip pain. MRI images showed an asymptomatic mass in her right hip. She denied any trauma.A radiograph taken after open reduction and internal fixation of the left femur showed no right sided gluteal mineralization.[[{"type":"media","view_mode":"media_crop","fid":"21989","attributes":{"alt":"","class":"media-image","height":"195","id":"media_crop_3511878125593","media_crop_h":"0","media_crop_image_style":"-1","media_crop_instance":"1590","media_crop_rotate":"0","media_crop_scale_h":"0","media_crop_scale_w":"0","media_crop_w":"0","media_crop_x":"0","media_crop_y":"0","title":"Click to enlarge","typeof":"foaf:Image","width":"219"}}]]However, an MRI demonstrated a right gluteal mass which was asymptomatic. There is a prominent edema pattern in the adjacent musculature.[[{"type":"media","view_mode":"media_crop","fid":"21990","attributes":{"alt":"","class":"media-image","id":"media_crop_4247393376024","media_crop_h":"0","media_crop_image_style":"-1","media_crop_instance":"1591","media_crop_rotate":"0","media_crop_scale_h":"0","media_crop_scale_w":"0","media_crop_w":"0","media_crop_x":"0","media_crop_y":"0","style":"width: 217px; height: 116px;","title":"Click to enlarge","typeof":"foaf:Image"}}]]Ultrasound shows a heterogeneous mass with prominent posterior acoustic shadowing.[[{"type":"media","view_mode":"media_crop","fid":"21991","attributes":{"alt":"","class":"media-image","id":"media_crop_7772977793642","media_crop_h":"0","media_crop_image_style":"-1","media_crop_instance":"1592","media_crop_rotate":"0","media_crop_scale_h":"0","media_crop_scale_w":"0","media_crop_w":"0","media_crop_x":"0","media_crop_y":"0","style":"width: 282px; height: 340px;","title":"Click to enlarge","typeof":"foaf:Image"}}]]Comparison axial images taken one month apart demonstrate early peripheral mineralization of the mass.[[{"type":"media","view_mode":"media_crop","fid":"21994","attributes":{"alt":"","class":"media-image","id":"media_crop_7212114068321","media_crop_h":"0","media_crop_image_style":"-1","media_crop_instance":"1593","media_crop_rotate":"0","media_crop_scale_h":"0","media_crop_scale_w":"0","media_crop_w":"0","media_crop_x":"0","media_crop_y":"0","style":"width: 336px; height: 160px;","title":"Click to enlarge","typeof":"foaf:Image"}}]]Diagnosis:Â  Myositis ossificansMuscle that has sustained trauma undergoes a process of formation of ossification in the musculature. In the first 8 weeks following the injury on MRI, a heterogeneous mass is frequently seen with a profound amount of surrounding edema. With time, a peripheral low signal intensity rim forms corresponding to peripheral ossification. In its early forms, the peripheral ossification may have a somewhat amorphous appearance on CT or radiograph without clear trabecular formation. [below][[{"type":"media","view_mode":"media_crop","fid":"21998","attributes":{"alt":"","class":"media-image","id":"media_crop_6515352428207","media_crop_h":"0","media_crop_image_style":"-1","media_crop_instance":"1594","media_crop_rotate":"0","media_crop_scale_h":"0","media_crop_scale_w":"0","media_crop_w":"0","media_crop_x":"0","media_crop_y":"0","style":"width: 266px; height: 162px;","title":"Click to enlarge","typeof":"foaf:Image"}}]]With aging, less significant trauma is needed to cause these changes. Frequently, patients do not recall a discrete event.Ultrasound is useful to demonstrate acoustic shadowing indicating a dense substance, often calcification, ossification, or marked fibrosis.Â  Ultrasound can also be used, as in this case, for biopsy to confirm the diagnosis.[[{"type":"media","view_mode":"media_crop","fid":"21999","attributes":{"alt":"","class":"media-image","id":"media_crop_6807843256535","media_crop_h":"0","media_crop_image_style":"-1","media_crop_instance":"1595","media_crop_rotate":"0","media_crop_scale_h":"0","media_crop_scale_w":"0","media_crop_w":"0","media_crop_x":"0","media_crop_y":"0","style":"width: 246px; height: 227px;","title":"Click to enlarge","typeof":"foaf:Image"}}]]Adapted from the teaching files of the Department of Radiology and Imaging at Hospital for Special Surgery. Special thanks to HSS Department of Pathology for their assistance in this diagnosis.References:Bone and Joint Imaging, 3rd Edition. Ed(s) D Resnick and MJ Kransdorf. Elsevier Saunders: Philadelphia,Â  2005.Musculoskeletal MRI.Â  Kaplan P, Helms C, Dussault R, Anderson M, Major N.Â  Musculoskeletal MRI. Philadelphia: Sanders Company; 2001Robert J Pignolo, Pediatric Fibrodysplasia Ossificans Progressiva (Myositis Ossificans) Medscape EMedicine, updated Sept. 2013Â 

, 3rd Edition. Ed(s) D Resnick and MJ Kransdorf. Elsevier Saunders: Philadelphia,  2005.



.  Kaplan P, Helms C, Dussault R, Anderson M, Major N.  

. Philadelphia: Sanders Company; 2001

Robert J Pignolo, 

Pediatric Fibrodysplasia Ossificans Progressiva (Myositis Ossificans)

Slideshows

In this case study, an elderly woman with pain in her left hip had asymptomatic myositis ossificans in the right. She had denied any trauma, which is the usual cause in the elderly.

Myositis Ossificans

An 82-year-old man presented with longstanding bilateral hip pain.

The patient had had prior cervical spine surgery but reported no history of previous trauma.

Can you draw any conclusions from this radiograph of the pelvis?

An 82-year-old man presented with longstanding bilateral hip pain but no history of trauma.

Author | Series editor: Eric Bogner MD

Articles

Gaucher's Disease

57-Year-Old Man With Multiple Sources of Pain

Myositis Ossificans

82-Year-Old Man With Bilateral Hip Pain