ArticleCureus2025
Bernard-Soulier Syndrome: Case Studies From Morocco.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Giant platelets and persistent bleeding: a pediatric case of Bernard-Soulier syndrome.Annals of medicine and surgery (2012) · 2025Article
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5 authors.
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No grant is acknowledged in the PubMed record.
Abstract
introductionBernard-Soulier syndrome (BSS) is a rare thrombopathy with only a few hundred cases reported in the medical literature. This study aims to highlight the diagnosis of this thrombopathy by platelet aggregometry at the central hematology laboratory of Centre Hospitalo-Universitaire Ibn Sina in Rabat. MATERIALS AND
methodsWe conducted a retrospective, descriptive study of BSS patients diagnosed in our laboratory over a four-year period, from 2020 to 2024. The study was based on the results of blood count and platelet aggregometry performed on platelet-rich plasma using the APACT 4004 device (LABiTec® Labor BioMedical Technologies GmbH, Ahrensburg, Germany).
resultsOut of 268 platelet aggregation tests, seven patients had an aggregometric profile compatible with BSS. The mean age was 21 years, with a sex ratio of 2.5. Second-degree consanguinity was found in six cases. Clinically, six patients had a history of hemorrhage since early childhood, while only one patient presented with non-traumatic hemarthrosis at an advanced age compatible with acquired BSS. Biologically, all patients had a normal hemostasis profile. Microcytic hypochromic anemia was observed in four cases. All had thrombocytopenia, except in one case where thrombocytosis was observed. Blood smears showed macroplatelets in all patients. Platelet aggregation showed a normal response to all inducers (adenosine diphosphate, collagen, and arachidonic acid) except ristocetin. Based on these epidemiologic and clinicobiologic data, the diagnosis of constitutional BSS was established in six patients, while only one case was idiopathic acquired BSS.
conclusionsOur study demonstrated that BSS is a thrombopathy that can be either constitutional or acquired, with a relatively high prevalence in Morocco, and should not be underestimated.
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