Case: 103

Sickle Cell Disease

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History: 32 yo female with chronic medical disease and abdominal pain.
Solution: Sickle cell disease is an autosomal recessive genetic disorder that is relatively common with approximately 10% of African Americans carrying at least one copy of the gene. Its penetrance is variable, particularly in heterozygous patients, but can be a debilitating disease requiring numerous hospitalizations. They are also susceptible to infections with multiple bacterial agents including: Streptococcus pneumoniae, Haemophilus influenzae type b (Hib), Neisseria meningitidis, and Salmonella. The radiographic manifestations include bone infarcts, fish vertebrae (seen in this case), pathologic fractures, osteomyelitis, necrosis of the femoral head, cardiomegaly, cholelithiasis (note that this patient has had a cholecystectomy), autoinfarction of the spleen (seen here), focal renal infarction (seen here), and can develop hemosiderosis (note dense liver in this case) related to multiple blood transfusions. The only cure is a bone marrow transplant.

CT Images

Questions

The most common cause of death for infants affected by this disease is:
  • Stroke
  • Anemia
  • Renal failure
  • Myocardial infarction
  • Infection
The prognosis of this disease is excellent if caught early and treated appropriately.
False
What is this patient\'s \"chronic medical condition\"?
Sickle cell disease.