Abstract Details

Title Magnetic Resonance Angiography-Defined Intracranial Vasculopathy Is Associated with Silent Cerebral Infarcts, and Glucose-6-Phosphate Dehydrogenase Mutation in Children with Sickle Cell Anemia

Topic Neurotoxicology

Presentation(s) S29 - (-)

Poster/Presentation
Number 001

Objective

Background The neurological burden in children with sickle cell anemia is significant. These children are at an increased risk for both overt stroke and silent infarcts. The pathophysiological mechanisms of silent cerebral infarcts (SCI) are poorly understood. We postulated that SCI are associated with intracranial vasculopathy, and that in boys with SCI, vasculopathy may be associated with G6PD gene mutations.

Design/Methods The Silent Infarct Transfusion (SIT) Trial is a multicenter study which is investigating whether prophylactic blood transfusion in children with SCI will prevent and delay the progression of cerebral infarcts. Magnetic resonance imaging and MRA were available in 516 children between 5 and 15 years of age, with hemoglobin SS and S beta0 thalassemia enrolled in the Silent Infarct Transfusion Trial. Genomic DNA was available in 208 male patients, which was used to screen for G6PD variants.

Results SCI were present in 41.5% (214 of 516) of children, whereas, vasculopathy was present in 10.3% (53 of 516) of children. The prevalence of intracranial vasculopathy among children with and without SCI was 15.9% (34 of 214) and 6.3% (19 of 302), respectively (p < 0.001). G6PD gene status was associated with vasculopathy (OR 2.95, 95% CI (1.09-8.04), p = 0.03). Two ?-globin deletions, age, and hemoglobin level were predictive factors for abnormal TCD (p ? 0.05).

Conclusions MRA-defined intracranial vasculopathy occurs in a minority of children with SCA, but when present, is associated with SCI. Furthermore, G6PD sequence variation is associated with vasculopathy in boys with SCA.

Authors/Disclosures
Mathula Thangarajh, MD, PhD, FAAN PRESENTER	Dr. Thangarajh has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Thangarajh has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for NS Pharma.
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Robert C. McKinstry, MD (MIR Neuroradiology Box 8131)	No disclosure on file
Michael J. Noetzel, MD (Dept of Pediatric Neurology)	No disclosure on file
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