SPR Unknown #42 -- FINAL

Ali M. Tahvildari, MD

Kiery Braithwaite, MD

Stephen Simoneaux, MD

Emory University and Children’s Healthcare of Atlanta

Keywords

SPR unknown 42, ollier, enchondromatosis


Publication Date: 2010-12-08

History

3 year old girl with leg length discrepancy

Findings

Plain radiographs: Multiple well defined linear and ovoid osteolytic defects are seen involving the metaphyseal regions of the femurs, acetabula, and the left tibia and fibula. Also involved are multiple metatarsals, the fifth left metacarpal and the middle and proximal phalanges of the left foot and left hand. Bony expansion and cortical thinning are associated with these lesions.

Discussion

Enchondromas are benign cartilaginous tumors most often found in the proximal phalanges of the hand, followed by the femur, humerus, and tibia. While solitary enchondromas often present in adults, multiple enchondromas (enchondromatosis) present in infancy or early childhood. Ollier disease is a form enchondromatosis which favors one side of the body (as demonstrated in this case) and therefore may present with asymmetric leg shortening. Maffucci syndrome is a combination of enchondromatosis and multiple soft tissue hemangiomas. Both Ollier disease and Maffucci syndrome are nonherediatry enchondromatoses which carry a higher risk of chondrosacromatous transformation than solitary enchondromas.

Enchondromas in short tubular bones typically present as radiolucent lesions, and those in long bones typically demonstrate chondroid calcifications. A less frequent presentation of enchondroma includes tunnel-like metaphyseal lucenies (often described as an “organ pipe” appearance). This finding is more often seen in the setting of Ollier disease than in isolation and is well-demonstrated in this case.

Treatment is dictated by the presence of significant functional impairment (such as leg length inequality or angular deformation) or if there is a strong suspicion for malignant transformation.

References

  1. Kan H, Kleinman P. Pediatric and Adolescent Musculoskeletal MRI: A Case Based Approach. Case 16: Enchondromatosis. New York: Springer, 2007; 110-115.
  2. Spranger JW, Brill PW, Pozanski AK. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development, 2nd ed. Chapter 146. New York: Oxford, 2002; 554-555.

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