Cases reported "Sickle Cell Trait"

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1/4. death due to microvascular occlusion in sickle-cell trait following physical exertion.

    The heterozygous condition characterized by the presence of hemoglobin AS (sickle-cell trait) occurs in approximately 8% of the American black population. Unlike the homozygous state (sickle-cell disease), sickle-cell trait is not widely recognized as a cause of life-threatening illness or death despite over 30 case reports describing fatal or serious complications of exercise in young black males with this condition. These reports identify heat stress, dehydration, viral illness, and poor physical conditioning as factors which may contribute to exertional rhabdomyolysis and sudden death, suggesting multifactorial etiology. However, since sickling is known to occur postmortem, it remains controversial as to whether the pathogenesis of these exercise related deaths involves microvascular obstruction by sickled erythrocytes. We describe three young black individuals with no significant past medical history who died following physical exertion. In all three cases, postmortem hemoglobin electrophoresis demonstrated hemoglobin AS. In none of the cases was the body temperature found to be elevated. These cases serve to remind the forensic community that, in the proper setting, sickle-cell trait must be viewed as a potentially fatal disorder.
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keywords = physical
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2/4. Non hypoxia-related splenic infarct in a patient with sickle cell trait and infectious mononucleosis.

    splenic infarction in patients with sickle cell trait is usually related to hypoxic conditions, while non-hypoxia-related infarcts are extremely rare. We report on a case of a 17-year-old male patient, living at sea level, who developed a severe left upper quadrant abdominal pain during the course of a febrile episode. On physical examination he had a mildly palpable but extremely painful spleen. A spleen scan revealed 2 areas of impaired radionucleide distribution. Hepatic enzymes were moderately increased and the IgM anti-EBV antibodies positive. Hemoglobin electrophoresis revealed the presence of 42% of hemoglobin S. A probable diagnosis of splenic infarction was established in a patient with sickle cell trait, during the course of infectious mononucleosis. The patient was treated symptomatically. The conditions of splenic congestion induced by the EBV infection and the high-grade fever may have contributed to splenic sequestration and subsequent infarcts.
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keywords = physical
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3/4. Exertional collapse and sudden death associated with sickle cell trait.

    The most serious complication of sickle cell trait (SCT) is sudden death during exertion. SCT often remains unrecognized in the 2.5 million african americans affected. Exertional collapse and sudden death associated with SCT is characterized by rhabdomyolysis, heat stroke, and cardiac arrhythmia. There is a 40-fold increased risk of sudden death in affected soldiers during military basic training and there are many cases reported in athletes during preseason training. There have been no cases reported in soldiers beyond basic training. In the case presented, a soldier with 3 years of military service succumbed to SCT-associated sudden death during physical fitness testing.
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keywords = physical
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4/4. Unrecognized microscopic hyphema masquerading as a closed head injury.

    OBJECTIVE: To present a child with an unrecognized microscopic traumatic hyphema and acute glaucoma who was initially treated as a closed head injury patient. DESIGN: Case report and discussion. RESULTS: Symptoms attributable to unrecognized occult ocular injury in a child with sickle cell trait resulted in evaluation and treatment of the child for a closed head injury. Evaluation included a computed tomography scan of the head and lumbar puncture. An ophthalmologic consultation later revealed a microscopic hyphema and acute glaucoma as the etiology of the child's signs and symptoms. CONCLUSIONS: Children who present with neurologic symptoms and a history of ocular trauma should undergo an ophthalmologic examination as soon as possible. hyphema, even if not readily visible on physical examination, can result in the development of acute glaucoma with signs and symptoms that resemble a closed head injury.
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