PMID- 32042394
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220412
IS  - 2008-6164 (Print)
IS  - 2008-6172 (Electronic)
IS  - 2008-6164 (Linking)
VI  - 11
IP  - 1
DP  - 2020 Winter
TI  - Bernard-Soulier syndrome or idiopathic thrombocytopenic purpura: A case series.
PG  - 105-109
LID - 10.22088/cjim.11.1.105 [doi]
AB  - BACKGROUND: Bernard-Soulier syndrome (BSS) is a rare, autosomal recessive 
      platelet function disorder which is commonly mistaken for idiopathic 
      thrombocytopenic purpura (ITP).The report includes seven cases of BSS that have 
      been diagnosed and treated as ITP for a long time. METHODS: Between 2006 and 
      2016, data of seven BSS patients who have long been diagnosed and treated as ITP 
      were collected and analyzed. RESULTS: Two patients were males and 5 were females. 
      The patient's age range was between one day and four years at the onset of 
      symptoms. Easy bruising, nose bleeds and mucocutaneous bleeding were the most 
      frequent symptoms. Bleeding attacks of the gum, gastrointestinal tract and 
      menorrhagia also occurred and in one case bleeding in the injection site of the 
      first vaccination was reported. In 6 patients, parents were relatives and in 
      three cases, there was a family history of low platelet counts. Variable 
      thrombocytopenia, prolonged bleeding time (BT), and large platelets with 
      increased bone marrow megakaryocyte were seen in all cases. Most patients were 
      treated with steroids, Intravenous immunoglobulin (IVIG), and some with IV 
      anti-D, Azathioprine, Danazol, Rituximab. Splenectomy was performed in one case. 
      In supplementary tests the platelet aggregation to ristocetin was absent and GPIb 
      expression level by flow cytometry method was lower than 10%. CONCLUSION: BSS 
      should always be considered in differential diagnosis of ITP especially in 
      persistent and refractory ITP.
FAU - Reisi, Nahid
AU  - Reisi N
AD  - Department of Pediatric Hematology and Oncology, Faculty of Medicine, Isfahan 
      University of Medical Sciences, Isfahan, Iran.
AD  - Child Growth and Development Research Center, Isfahan University of Medical 
      Sciences, Isfahan, Iran.
AD  - Isfahan Immunodeficiency Research Center, Isfahan University of Medical Sciences, 
      Isfahan, Iran.
LA  - eng
PT  - Case Reports
PL  - Iran
TA  - Caspian J Intern Med
JT  - Caspian journal of internal medicine
JID - 101523876
PMC - PMC6992729
OTO - NOTNLM
OT  - (GP) Ib/IX/V complex
OT  - Giant platelet
OT  - Platelet function disorder
OT  - thrombocytopenia
COIS- The author declare that she has no competing interests
EDAT- 2020/02/12 06:00
MHDA- 2020/02/12 06:01
PMCR- 2020/01/01
CRDT- 2020/02/12 06:00
PHST- 2020/02/12 06:00 [entrez]
PHST- 2020/02/12 06:00 [pubmed]
PHST- 2020/02/12 06:01 [medline]
PHST- 2020/01/01 00:00 [pmc-release]
AID - 10.22088/cjim.11.1.105 [doi]
PST - ppublish
SO  - Caspian J Intern Med. 2020 Winter;11(1):105-109. doi: 10.22088/cjim.11.1.105.