Open AccessBernard Soulier Syndrome: Presenting As High-grade Fever In A Young Male
Author(s) -
Syed Parvez Asghar,
Rida Ali Asghar,
Syed Sajid Abbas Jaffari,
Zehra Akhtar,
Naveed Siddique
Publication year - 2019
Publication title -
the journal of bahria university medical and dental college
Language(s) - English
Resource type - Journals
eISSN - 2617-9482
pISSN - 2220-7562
DOI - 10.51985/jbumdc2019005
Subject(s) - bernard–soulier syndrome , chills , medicine , ristocetin , pediatrics , hematochezia , coagulation disorder , platelet , intensive care medicine , coagulation , surgery , platelet aggregation , cancer , colonoscopy , colorectal cancer
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