James D. Collins, MD
An 11-year-old Haitian boy who lives with his parents at a high altitude presented with a chief complaint of bone pain in his left leg after exercising. His complaint of pain began 3 months prior to his clinical evaluation. The patient’s mother indicated that she has sickle cell trait and his father has Gaucher’s disease. The boy’s pediatrician detected palpable pain over the left knee, so an anterior-posterior (AP) X-ray was obtained over that area.
The AP radiograph displayed an area of increased bone density (sclerosis) within the cortical margins of the distal left femur in the diaphyseal-metaphyseal region, as well as an irregular trabecular pattern and translucent areas surrounded by the sclerotic serpiginous border of healing bone with elevation of the periosteum (Figure 1).1
Figure 1 This cone-down radiograph displays periosteal elevation on the lateral surface of the femur (not labeled) and sclerotic serpiginous densities (X) marginated by lucencies in the diaphyselal-metaphyseal region of the left femur.
The AP radiograph was then enlarged over the region of the elevated periosteum displaying fascial plane expansion of inflammation/hemorrhage (Figure 2). The enlarged image caused a high-density artifact medial to the elevated periosteum.
Figure 2 This enlarged image of Figure 1 displays the elevated periosteum (P) reflecting fascial plane expansion of inflammation/hemorrhage. Observe the high dense artifact (not labeled) medial to the elevated periosteum secondary to enlarging the image.
A percutaneous biopsy of the distal anterior left femur was performed and demonstrated findings consistent with Gaucher’s cells and bone infarction with no evidence of malignancy.
The boy was tested and declared a carrier of both Gaucher’s disease and sickle cell anemia. He was discharged to return for management and treatment of his described findings. However, he was lost to follow-up.
Further Radiographic Findings
The patient returned 28 years later for additional imaging. He indicated that he was on continuous artificial enzyme treatment for Gauchers’ disease. His AP chest radiograph displayed anterior rotated clavicles over the posterior 3rd intercostal spaces, which reflected mild rounding of the shoulders and normal cardiomediastinal structures, lungs, and osseous anatomy (Figure 3). A lateral radiograph of the cervical spine displayed the normal clavicle, mandible, trachea, and the cervical vertebrae (Figure 4).
Figure 3 This AP chest radiograph displays the anterior rotated clavicles over the 4th intercostal spaces reflecting mild rounding of the shoulders; normal osseous, cardiomediastinal structures and lungs; and normal air in the stomach (not labeled) reflecting non-enlargement of the spleen. A= aorta; CP= coracoid process; FR= first rib; LV= left ventricle; P= pulmonary artery; RD= right hemidiaphragm; LD= left hemidiaphragm; T= trachea; 1T = first thoracic vertebra.
Figure 4 This lateral radiograph of the cervical spine displays the normal clavicle (C), mandible (M), left (LT), trachea (T), cervical spine vertebrae (2, 4, 5), occipital bone (OC), normal articular facets (not labelled), and no osseous abnormalities.
Magnetic resonance imaging of the abdomen, pelvis, and lower extremities was obtained without contrast. The acquired T1-weighted images displayed normal thoracolumbar vertebrae, liver, descending aorta, and spleen (Figure 5). An AP radiograph of the left hip displayed the normal trabecular pattern of the left hip joint and the proximal femur (Figure 6), while an enlarged AP radiograph of the distal left femur displayed dense margins of periostitis and sclerosis in the bone marrow (Figure 7).
Figure 5 This sagittal MRI radiograph displays the normal thoracic, (not labeled) and lumbar vertebrae (L1, L4). Fascial plane of the rectus abdominus muscle is not labeled. Liv= liver; A= descending aorta; UB= umbilicus; S= stomach.
Figure 6 This AP radiograph of the left hip displays the normal appearance of the left hip joint, ischium (IS), acetabulum (A), head of the femur (H), greater trochanter (GT), irregular margin of the lesser trochanter (not labeled), and normal trabecular pattern of the proximal femur, ischium, and pubic bones (not labeled). The adjacent muscles are within normal limits (not labeled).
Figure 7 This enlarged AP radiograph displays the dense margin of periostitis (P) and sclerosis in marrow margins within the distal left femur (4 arrows).
An anterior radiograph of the left tibia, fibula, and the talus of the left ankle displayed thickening of the periosteum over the left fibula and thickened cortex of the left tibia (Figure 8). Bilateral T1-weighted coronal images of the femurs displayed high proton-dense fat within the marrow of the femurs and low proton-dense sclerosis (infarction) in the distal diaphyseal-metaphyseal regions of the femurs (Figure 9).
Figure 8 This anterior radiograph displays the left tibia, fibula, and the talus of the left ankle. Observe the thickened periosteum (P) cortical margin of the left fibula (F) and the irregular soft tissues from wearing tight, high boots (E) and the thickened cortex of the left tibia (T)
Figure 9 This bilateral T1-weighted coronal image displays the femurs. Observe the high proton-density fat (not labeled) within the femurs (F) and low proton-density sclerosis (infarction) (X) in the distal diaphyseal-metaphyseal regions of the femurs. B= bladder; C= cortex; GR= gracilis muscle.