  Case of the Week - Patient Summary 13873Peer Reviewed and Certified - | |
| Demographics: 8 y.o. boy | |
| History & Chief complaint: | |
| 8 year old boy, who recently moved from Nigeria, presents with abdominal and back pain. No family history of anemia | |
| Physical exam and Laboratory: | |
| One lab test was positive (results withheld for answer) | |
| Summary of Findings: | |
| • Negative plain film lumbar spine examination.
• MR Irregular signal marrow throughout the Lumbar spine secondary to bone infarcts and red marrow reconversion. • No compression fractures or paraspinal masses. | |
| Differential Diagnosis: | |
| • Lymphoma
• Neuroblastoma metastasis • Leukemia • Anemia with marrow replacement/hypertrophy | |
| Diagnosis: | |
 Sickle Cell Anemia with bone infarcts. | |
| Confirmed by: MRI and laboratory evaluation showing SSA | |
| Treatment and Followup: | |
| Positive RBC evaluation for Sickle Cell Anemia. Supportive therapy for SCD. | |
| Patient Specific Discussion: (Also Read the Disease Discussion) | |
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| Sickle Cell Anemia represents an inherited disorder due to homozygosity for the abnormal hemoglobin HbS. HbS results from the substitution of valine for glutamic acid at the sixth amino acid of the beta globin chain. When two HbS beta globins are paired with two alpha globins to make a hemoglobin tetramer, the result is a molecule that is poorly soluble when deoxygenated. Poorly soluble HbS molecules join together within the erythrocytes leading to deformation of the typical biconcave shape of the red cell to the classic sickle or crescent shape, severely limiting its normal deformability. Clinically, patients with sickle cell disease present with hemolysis and vaso-oclusive phenomena. Radiographically patients with sickle cell disease often demonstrate signs of high-output cardiac failure (cardiomegaly, pulmonary vasculature congestion), and osseous changes resulting from the increased need for erythrocyte production (deossification secondary to marrow hyperplasia), and from vaso-occlusive phenomena (osteonecrosis). The PA chest radiograph submitted with this factiod of an adult patient with known sickle cell disease demonstrates cardiomegaly, prominant pulmonary vasculature, and bilateral humeral head changes consistent with osteonecrosis.
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