Bernard Soulier Syndrome; A Rare Bleeding Disorder
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Date
2018-01
Authors
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Journal ISSN
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Publisher
Dr. J.S. Sodhi Memorial Educational Society
Abstract
Bleeding syndromes in the newborn are rare, but 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 an infant presenting with bleeding symptoms early in his life (since 5 months of age) which was initially thought to be immune thrombocytopenic purpura (ITP) with low platelet count. No response to steroids and further evaluation by platelet aggregometry and flowcytometry led to the correct diagnosis – Bernard soulier syndrome(BSS). Though, there is no specific treatment available for this rare bleeding disorder, 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.
Description
Keywords
Bernard Soulier Syndrome, Bleeding, Giant Platelets, Platelet Aggregation, Flowcytometry, Pulmonology
Citation
Tripathi P, Karthika KV, Pati HP, Tyagi S. Bernard Soulier Syndrome; A Rare Bleeding Disorder. International Journal of Medical and Dental Sciences. 2018 Jan; 7(1): 1642-1645