International Journal of Medical and Dental Sciences

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Bernard Soulier Syndrome; A Rare Bleeding Disorder


Affiliations
1 All India Institute of Medical Sciences, New Delhi, India
2 Department of Hematopathology, All India Institute of Medical Sciences, New Delhi, India
 

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.

Keywords

Bernard Soulier Syndrome, Bleeding, Giant Platelets, Platelet Aggregation, Flowcytometry.
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  • Bernard Soulier Syndrome; A Rare Bleeding Disorder

Abstract Views: 223  |  PDF Views: 136

Authors

Preeti Tripathi
All India Institute of Medical Sciences, New Delhi, India
K. V. Karthika
All India Institute of Medical Sciences, New Delhi, India
H. P. Pati
Department of Hematopathology, All India Institute of Medical Sciences, New Delhi, India
Seema Tyagi
Department of Hematopathology, All India Institute of Medical Sciences, New Delhi, India

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.

Keywords


Bernard Soulier Syndrome, Bleeding, Giant Platelets, Platelet Aggregation, Flowcytometry.

References





DOI: https://doi.org/10.18311/ijmds%2F2018%2F166213