Bernard Soulier Syndrome; A Rare Bleeding Disorder


Affiliations

  • All India Institute of Medical Sciences, Department of Hematopathology, 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.

Subject Discipline

Pulmonology

Full Text:

References

Nurden AT. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost 2005;3:1773–82.

Bragadottir G, Birgisdottir ER, Gudmundsdottir BR, Hilmarsdottir B, Vidarsson B, Magnusson MK, et al. Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. Am J Hematol 2015;90:149-53.

Pham A, Wang J. Bernard-Soulier syndrome: an inherited platelet disorder. Arch Pathol Lab Med 2007;131:1834-6.

Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier Syndrome. Blood 1998;91:4397–418.

Feng S, Christodoulides N, Kroll MH. The glycoprotein Ib/IX complex regulates cell proliferation. Blood 1999;93:4256-63.

Diz-Kucukkaya R. Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. Hematology Am Soc Hematol Educ Program 2013;2013:26875.

Young G, Luban N, White JG. Giant platelet disorders in African-American children misdiagnosed as idiopathic thrombocytopenic purpura. J Pediatr Hematol Oncol 1999; 21:231-6.

Kirchmeir CM, Pilliteri D. Diagnosis and Management of Inherited Platelet Disorders. Transfus Med Hemother 2010;37:237–46.

Linden MD, Frelinger AL, Barnard MR, Przyklenk K, Furman MI, Michelson AD. Application of flow cytometry to platelet disorders. Semin Thromb Hemost 2004;30:501-11.

Balduini CL, Lolascon A, Savoia A. Inherited thrombocytopenias: From genes to therapy. Haematologica 2002;87:860–80.


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