Congenital factor VII deficiency is a rare bleeding disorder, with an incidence of 1:500,000. This case report describes an exceptionally unusual combination of congenital factor VII deficiency, multicystic dysplastic kidney disease and bicuspid aortic valve disease, in the same patient.

INTRODUCTION: Sickle cell disease (SCD) is an autosomal recessive disorder characterized by hemolytic anemia with abnormal red blood cells. Stroke is a devastating complication of SCD. In Saudi Arabia, there is a high incidence of children with SCD who have had stroke. No studies have been conducted to look at the risk factors. In this review, we aim to explore these risk factors. METHODOLOGY: In this retrospective cohort, individuals between 0 and 18 years old, diagnosed with SCD and had either a stroke, or pathological transcranial Doppler ultrasonography (TCD) result (cerebral blood velocity ≥200 cm/second or repeated borderline result >170 cm/second) were included. 38 cases were assessed. The parents were interviewed regarding patients personal, social, and family history. Medical and laboratory data were obtained from medical records. RESULTS: Females were more affected (20/38). Most children are of an average socioeconomic status (20/38 compared to only 12/38 with poor socioeconomic status). Parental education inversely correlated with the risk of stroke/pathological TCD. The most common presentation of stroke was weakness (9/38), followed by headache (5/38). History of a prior stroke was found to be significant at 15.8%. The Cooperative Study of SCD found that leukocytosis is associated with an increased risk of stroke. In contrary, our review showed an average white blood cell count of 13.01 (+/[FIGURE DASH]5.36), HbS concentration at the onset of stroke, and/or pathological TCD of 66.23% (+/[FIGURE DASH]20.11). The most common artery involved was the middle cerebral artery. CONCLUSION: Stroke is very prevalent in children with SCD in Saudi Arabia. A striking finding was that parental education inversely correlated with the risk; therefore, improving the awareness level of SCD among parents is crucial. Wide implementation of TCD as a screening tool and improving compliance with TCD may lead to reduce the risk. We encourage Saudi researchers to focus on central nervous system complications in children with SCD.