A Rare Case Report on Bernard Soulier Syndrome

Abstract

Our aim in this case report is to present the case of a fifteen‐year‐old boy diagnosed with Bounard soulier syndrome [BSS], to evaluate how the disease was managed, and to identify any shortcomings in its treatment. The patient previously diagnosed with BSS presented with epistaxis and vomiting episodes associated with blood. Immediate Complete blood picture was ordered and tranexemic acid was administered suspecting bleeding in the esophageal/gastric lining. The reports showed thrombocytopenia [27,000 109/L] with large sized platelets, after which Random donor platelets was administered along with antithrombolytics and vitamin supplements. Patients with BSS often experience variable frequency of bleeding manifestations due to fluctuating platelet levels and prompt management to rise platelet levels is considered important to for better patient outcome and quality of life. Females with BSS may be more prone to heavy bleeding in their menstrual period. Patient and parent [for pediatric patients] counselling help them understand this condition requiring life time interventions and monitoring. Helping them understand about possible risk of bleeding with other meds such as anticoagulants and advising to refrain from it may help. Constant supervising, reassuring and prompt medical intervention will contribute to positive patient outcomes.