Abstract:
Bernard-Soulier syndrome (BSS) is a rare inherited disorder of blood clotting (coagulation). They may be life-threatening
and demand immediate attention. Congenital bleeding disorders especially pose a diagnostic challenge to the clinician
because of their rarity and the need to be differentiated from the other common causes of bleeding in children. We present
a case of young male presenting with generalized weakness, high grade fever with chills, dry cough and black tarry stools
(2-3 stools/day). No response to steroids and further evaluation by platelet, ADP, collegen, epinephrine and defective
response to ristocetin led to the correct diagnosis – Bernard soulier syndrome (BSS). However, it is imperative to have
arrived at correct diagnosis in order to save unnecessary therapy and to take due precautions for prevention of bleeding.