Sickle cell disease and stroke

Abstract

Sickle cell disease (SCD) is a hereditary disorder that is so named for the presence of characteristic malformed sickle-shaped red blood cells (RBCs). These abnormal RBCs are shortlived and can also cause vaso-occlusion throughout the body, which may lead to ischemia and infarcts in multiple organ systems. Neurovascular complications of SCD include cerebral vasculopathy, such as stroke and neurocognitive deficits, which are significant causes of morbidity and mortality in both children and adults. In current clinical practice, various conventional imaging tools, such as computed tomography (CT), magnetic resonance imaging (MRI), and catheter angiogram, still play an important role in diagnosis and follow-up of neurovascular complications of SCD. Ultrasounds, including transcranial Doppler (TCD) ultrasound, are useful in screening for intra- and extracranial vasculopathy. Advanced imaging techniques, such as diffusion tensor imaging (DTI), perfusion imaging, MR spectroscopy, quantitative MRI (qMRI), and nuclear medicine such as single-photon emission computed tomography (SPECT) and positron emission tomography (PET), are emerging as diagnostic tools in the evaluation of SCD. In this chapter, a brief overview of the etiology, classification, pathophysiology, epidemiology, clinical manifestation, and treatment of SCD is provided. The complications of SCD seen across the spectrum of conventional to advanced imaging modalities are also illustrated and discussed. The focus is on neurovascular complications and its management, but there will also be a discussion of posterior reversible encephalopathy syndrome, craniofacial osseous complications, and inner ear complications, which may be encountered in the daily neuroradiology practice.