1/66. Pulmonary bone marrow embolism in sickle cell disease. We report an unusual lethal complication of sickle cell anemia. The patient was admitted with a diagnosis of acute chest syndrome and died shortly after that of respiratory failure. autopsy revealed numerous deposits of bone marrow hematopoietic tissue occluding the microvascular circulation of the lung. Many causes of acute chest syndrome in sickle cell anemia have been identified, including bone marrow infarction leading to embolism of bone marrow fat. However, the release of bone marrow hematopoietic tissue leading to pulmonary vascular occlusion is not generally recognized premortem by treating physicians. ( info) |
2/66. Transient left ventricular dysfunction in childhood sickle cell disease. For unclear reasons, myocardial infarction is rare in childhood sickle cell disease, whereas lung, bone, and brain infarcts are more common. During vasoocclusive crisis and infection, acute myocardial ischemia and chronic volume overload from anemia may result in myocardial dysfunction. We report a child who had reversible cardiac dysfunction that mimicked myocardial infarction. ( info) |
3/66. Trans-scleral diode laser photocoagulation in proliferative sickle cell retinopathy. OBJECTIVE: To demonstrate the feasibility of trans-scleral diode laser photocoagulation for the treatment of proliferative sickle cell retinopathy. DESIGN: Interventional case report. INTERVENTION: Trans-scleral diode laser scatter photocoagulation was applied to both eyes of a 30-year-old man with hemoglobin sc disease. MAIN OUTCOME MEASURES: Regression of retinal vascular proliferation and of dye leakage on fluorescein angiography. RESULTS: After coagulation, vascular proliferation receded completely. Vitreous bleeding was absorbed. There were no side effects during follow-up (22 months). CONCLUSION: Trans-scleral diode laser photocoagulation proved to be an effective and safe treatment in a case of proliferative sickle cell retinopathy with vitreous bleeding. ( info) |
4/66. Laboratory recognition of a rare hemoglobinopathy: hemoglobins SS and SG(philadelphia) associated with alpha-thalassemia-2. This article describes the laboratory investigation of an unusual hemoglobinopathy involving hemoglobin (Hb) S, HbSG(philadelphia), and alpha-thalassemia-2 in a patient whose phenotype was HbSC by alkaline electrophoresis. Findings of a mean corpuscular volume of 62 fL and microcytes on the blood smear were inconsistent with HbSC disease. The patient's clinical course over several years had been mildly symptomatic. Testing in our hospital laboratory using isoelectric focusing and cation-exchange high-performance liquid chromatography to separate hemoglobins showed an unknown variant. Additional studies, including globin chain electrophoresis, reverse-phase high-performance liquid chromatography, and polymerase chain reaction-based dna analysis were performed at reference laboratories, which reported the following findings: HbG(philadelphia) associated with alpha-thalassemia-2, HbS and HbG(philadelphia), and the alpha-globin deletions defining the -alpha3.7/-alpha3.7 genotype. The hemoglobin molecular defects, alpha-thalassemia-2, and the pattern of inheritance are discussed. ( info) |
5/66. Sickle cell disease in pregnancy. Homozygous sickle cell anaemia (Hb S) is the most common major haemoglobinopathy in the united states, occurring in approximately 1 in 626 african americans. While haemoglobinopathies involving Hb S occur commonly in blacks of African descent, they are also found in people of Middle Eastern, East Indian and Mediterranean origin. It is an uncommon disease, especially in homozygous form, in australia. We present the case of a woman in her third pregnancy, originally from ghana, with HB F, and discuss the current issues in the management of sickle cell disease in pregnancy. ( info) |
| Although sarcoidosis has occasionally been associated with hemoglobinopathies, its association with dermatomyositis is extremely rare. A 24 y/o African American male with hemoglobin sc disease developed proximal weakness. He had heliotrope rash, muscle weakness, elevated serum CK, myositis by EMG, and no malignancy. A muscle biopsy confirmed dermatomyositis. Two years later, he was hospitalized with constitutional and respiratory symptoms and parotid enlargement. Chest X-ray and CT scan showed diffuse micronodular infiltration in both lungs and mediastinal lymphadenopathy. A transbronchial lung biopsy revealed non-caseating granulomata consistent with sarcoidosis. AFB and fungal stains and cultures were negative. Thus, in this case, sarcoidosis developed after or in association with dermatomyositis. A review of world's literature showed five other non-identical cases of dermatomyositis associated with sarcoidosis. ( info) |
7/66. Concomitant sickle cell disease and skeletal fluorosis. Skeletal fluorosis typically manifests as a diffuse increase in bone density, whereas avascular necrosis of the epiphyses and diaphyseal marrow are the main skeletal manifestations of sickle cell disease. The diagnostic and therapeutic challenges raised when both disorders are present are illustrated by two cases in Senegalese patients from an area characterized by high fluoride contents in the water and soil. Both had SS sickle cell disease. Skeletal fluorosis was diagnosed during evaluation for avascular necrosis in one patient and in the wake of septic arthritis in the other. Femoral head necrosis is difficult to identify in a patient with skeletal fluorosis. The bone lesions due to sickle cell disease and those due to fluorosis can mimic other bone diseases, most notably metastases. The combination of sickle cell disease and fluorosis results in significant medullary canal narrowing due to cortical thickening and to accumulation of necrotic bone. When performing hip replacement surgery, careful reaming of the medullary canal may reduce the risk of iatrogenic femoral fracture and inappropriate stem placement. ( info) |
8/66. Haemoglobin SC disease presenting with a compartment syndrome secondary to a deep vein thrombosis. A patient presented with a deep vein thrombosis (DVT), which resulted in a compartment syndrome of both the thigh and the calf. Subsequently, the patient was found to have haemoglobin SC disease. Prompt fasciotomies were performed; however, some muscle and nerve damage was later clinically apparent. This case highlights the value of prompt diagnosis of compartment syndrome and the need for urgent formal fasciotomies. The case also demonstrates the value of seeking an underlying cause for a DVT when none is apparent. ( info) |
9/66. An unusual presentation of shock in a previously healthy child. A previously healthy, 7-year-old African-American male presented to the emergency department with a high fever and signs of compensated shock. With this case presentation, we review the clinical evaluation of a child in shock and discuss the importance of early recognition and treatment. Additionally, the varied etiologies of shock in a previously healthy individual are discussed. ( info) |
10/66. coronary artery bypass graft surgery in a patient with haemoglobin SC disease. patients with sickle cell disease who undergo surgery are generally considered to be at greater risk of peri-operative complications than otherwise healthy patients. We report a case of a woman with haemoglobin SC disease undergoing coronary artery bypass grafting. She was successfully managed with pre-operative exchange transfusion and normothermic cardiopulmonary bypass. ( info) |