Avascular necrosis in sickle cell disease

Clinical Cases 11.06.2003
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Section: Musculoskeletal system
Case Type: Clinical Cases
Patient: 30 years, male
Authors: Scutellari PN, Cinotti A, Cuneo A, Mannella P
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Clinical History

A patient with homozygous sickle cell disease experienced recurrent bone and joint pain affecting especially the knees and shoulders.

Imaging Findings

A patient with homozygous sickle cell disease experienced recurrent haemolytic crises, with bone and joint pain affecting especially the knees and shoulders. Treatment included transfusion and chelation therapy.

Digital radiography of the knees revealed bone infarction in the metadiaphyseal region of both femora and tibiae. On the articular surface of the medial femoral condyle, a crescent cortical radiolucency may be observed, which is referred to as avascular necrosis (AVN). Radiography of the hip demonstrated avascular necrosis in the proximal femoral epiphysis. Digital radiography of the shoulder showed alteration of bone texture in the humeral head, consisting of lytic and sclerotic lesions; a crescent sign can also be seen. The joint space is not affected. These features are suggested a diagnosis of avascular necrosis. MRI of the right shoulder and knee confirmed the radiological diagnosis of AVN.

Discussion

Sickle cell disease is a pathological condition characterised by the presence of HbS, composed of a normal alpha chain and an abnormal beta chain, in which valine has replaced glutamic acid Symptoms consist of painful crises affecting the extremities, due to deformation of red blood cells, which produces vaso-occlusion and tissue death. Ischaemia is the clinical consequence: osseous and articular pain is related to infarction of bone marrow. Other clinical manifestations are hepatosplenomegaly, cardiac enlargement, chronic leg ulcers, osteomyelitis, septic arthritis, pulmonary abnormalities, jaundice, cholelithiasis, peptic ulcer disease, haematuria, priapism and lymphoadenopathy.

Radiographic and pathological features are: (1) marrow hyperplasia, which produces widening of the medullary cavities and cortical thinning; (2) vascular occlusion (due to the sickling phenomenon), which leads to necrosis of bone. In children between the ages of 6 months and 2 years, osteonecrosis produces the "hand-foot" syndrome or dactylitis. In adults, diaphyseal infarction of tubular bones (proximal and distal femur, proximal humerus and tibia) appears as a linear radiodense area adjacent to the cortex, extending along the entire shaft, and producing a bone-within-bone appearance. Epiphyseal infarcts are commonly bilateral, with a predilection for the humeral and femoral head: in these sites focal lucency and sclerosis, subchondral linear radiolucent shadow, collapse and fragmentation are evident. Secondary osteoarthritis is observed especially in the hip.

MRI findings are characterised by marrow reconversion, which leads to signal changes, consisting of diffuse or focal areas of diminished signal intensity on most spin echo sequences. Unfortunately, these findings lack specificity, being seen in patients with lymphoma, leukaemia, multiple myeloma, myelofibrosis, or skeletal metastases. The most characteristic MR pattern of osteonecrosis is the double line sign, consisting of a peripheral (serpentine) region of decreased signal intensity and a central region of increased signal intensity on T2-weighted spin echo images. This sign adds specificity to the diagnosis.

Differential Diagnosis List

Avascular necrosis in sickle cell disease

Final Diagnosis

Avascular necrosis in sickle cell disease

Liscense

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Radiographic imaging

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MR Imaging

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