Bernard Soulier Syndrome: Presenting As High-grade Fever In A Young Male

Authors

  • Syed Parvez Asghar
  • Rida Ali Asghar
  • Syed Sajid Abbas Jaffari
  • Zehra Akhtar
  • Naveed Siddique

DOI:

https://doi.org/10.51985/JBUMDC2019005

Keywords:

Bernard Soulier Syndrome, Bleeding Disorder, Decrease expression of glycoprotein.

Abstract

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.

References

Lanza F (2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis.16 (1): 46. doi:10.1186/1750-1172-1-46. PMC 1660532. PMID 17109744.

Anesthetic and perioperative management of a patient with Bernard-Soulier syndrome Georgia Kostopanagiotou MD, IoannaSiafakaMDa, ConstantinosSikiotisMDa, and Vassilios SmyrniotisMDa. Received 23 July 2003; Revised 21 October 2003

Pham A, Wang J. "Bernard-Soulier syndrome: an inherited platelet disorder" (subscription required). Arch. Pathol. Lab. Med. 2007;131(12):1834–6. PMID 18081445.

synd/2075 at Who Named It?

Bernard J, Soulier JP (December 1948). "[Sur une nouvelle variété de dystrophiethrombocytairehémorragipare-congénitale]" (in French). Semaine des hôpitaux de Paris24 (Spec. No.): 3217–23. PMID 18116504.

Online 'Mendelian Inheritance in Man' (OMIM) GIANT PLATELET SYNDROME -231200.

Almeida AM,KhairK,Hann I, et al.The use of recombinant factor VIIA in children with inherited platelet function disorders. Br J Haematol2003;121:477-81.

Peters M, HeijboerH.Treatment of a patient with Bernard Soulier Syndrome and recurrent nosebleeds with recombinant factor VIIa.ThrombHaemost 1998;80:352.

De Marco L, Mazzucato M, Fabris F, et al. (July 1990). "Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex". J. Clin. Invest.86 (1): 25–31. doi:10.1172/JCI114692. PMC 296685. PMID 1694864.

Giant platelet syndrome; Bernard-Soulier syndrome; Deficiency of Platelet glycoprotein 1b at NIH's Office of Rare Diseases.

Downloads

Published

2019-10-01

How to Cite

Asghar, S. P. ., Asghar, R. A., Jaffari, S. S. A., Akhtar, Z. ., & Siddique, N. . (2019). Bernard Soulier Syndrome: Presenting As High-grade Fever In A Young Male. Journal of Bahria University Medical and Dental College, 9(3), 247–249. https://doi.org/10.51985/JBUMDC2019005

Issue

Vol. 9 No. 3 (2019): Volume 9 Issue 3

Section

Case Report

License

Copyright (c) 2019 Syed Parvez Asghar, Rida Ali Asghar, Syed Sajid Abbas Jaffari, Zehra Akhtar, Naveed Siddique

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Journal of Bahria University Medical & Dental College is an open access journal and is licensed under CC BY-NC 4.0. which permits unrestricted non commercial use, distribution and reproduction in any medium, provided the original work is properly cited. To view a copy of this license, visit https://creativecommons.org/licenses/by-nc/4.0