Syed Parvez Asghar, Rida Ali, Syed Sajid Abbas Jaffari, Zehra Akhtar, Naveed Siddique.
Bernard Soulier Syndrome: Presenting as High-grade Fever in a Young Male.
J Bahria Uni Med Dental Coll Jan ;9(3):247-9.

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. Key Words: Bernard Soulier Syndrome, Bleeding Disorder, Decrease expression of glycoprotein.

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